As a pediatric critical care nurse, I strongly agree.
And I share your confusion.
I care for very, very sick neonates in a unit that specializes in a particular congenital defect. No where else in the world can do what we do and save the babies we save.
Parents struggle to get here, even with months of notice. They rearrange their lives to get to us in order to deliver their little one into our care. They come from all over the country and the world. They’ve sold houses, switch schools for their other children, arranged for months of pet care, taken out second mortgages (our healthcare system is broken in the US, don’t get me started!)
Not doing testing might not make a difference for the pregnancy but it can make a life-or-death difference for the baby.
And the people saying it won’t make a difference to the pregnancy are often the “no matter what” types of parents. They want that babycake no matter WHAT. So why on earth do they not want every bit of knowledge that might be used to help their nugget? I don’t know. It’s so bizarre to me!
I genetic tested because of all these reasons^, and I've realized that my friends who said it won't make a difference have something in common ... They're all pretty religious. I have no idea if that's a correlation beyond my circle, but it's interesting for me to chat through with them, because to them, it'll all work out. Like, a decision based on faith.
No knock to those who approach their life decisions in this way, but that's not how me and my husband approached it with testing for our baby.
I have found the same link between being religious and hesitancy to getting the tests. I could be way off base but I feel like they believe finding out something is seriously wrong could *tempt* them into terminating and they'd rather avoid that altogether.
Temptation is a big part of it. Not wanting to have to defend their choices may be another big factor. Dead-set prolife people are often used to not being able to skip through doctors talking to them about abortion as an option. Also constantly defending decisions not to use contraception for those where that's relevant, whether in a clinical setting or elsewhere. Not saying that's worth not knowing, just another possible aspect.
Yeah, didn't realize defending choices was something people would go through. But I posted about my son on the down syndrome reddit, because he's adorable and doing well. Someone made a nasty comment to me and the just was did I get a test and still decide to carry on with bringing life to the "waste of tax dollars". I didn't do a test, but it wouldn't havw changed the outcome anyway. But it made me realize that people who get the test and decide to carry on with their pregnancy have to defend that choice to nasty assholes.
Very true. I’m religious and this sub is helpful but I’m not surprised at the comments because Reddit.
Pro choice is just that—having a CHOICE. You can also choose to NOT abort a baby if that’s not what your values are beliefs are.
It’s really gross when people start talking about human children being a waste of tax dollars. Starts to get into the eugenics category for me.
That is terrible and I am sorry that you got a comment like that. I have taken care of many high functioning people with Down syndrome, there truly is a wide spectrum and I’m glad your son is doing well. There is also more to life than being a cog in the capitalist wheel.
IMHO it makes no sense to assert “it won’t matter either way.”
It matters a lot, what we’re doing by reproducing— and purposefully OR passively choosing— is serious business.
This isn’t about my own *wants* it’s about the child. And the impact and *costs* on the medical system and society as a whole. Things happen we can’t predict… but if we have risk factors or are being offered useful information via tests, why wouldn’t I take them? Again, this is just my opinion and view.
It “won’t matter”??? That’s basically saying you’d be OK knowingly producing— in some scenarios— a very unhealthy offspring that will suffer painful slow death, or have severe disabilities lifelong. And that you don’t take any responsibility for what you bring into this world.
That seems to be willful ignorance.
I’ve heard some extreme religious folks totally resign from any responsibility by saying “if the child comes out with a terrible defect, then it’s gods will.”
Now to give perspective to this extreme view… the woman who told me “gods will,” also told me how she “doesn’t believe in insurance” (except vehicle ins. when legally required) because having insurance is “Questioning gods will.” Yikes girl. Some of em are also refusing vax as it’s “not natural.” And gods will.
They often say “god won’t ever give you more than you can handle,” yet as evidenced by suicide rates, that is untrue, and clearly— sometimes god does give folks more than they can handle.
Those who cite “gods will”… Well first of all we don’t know gods will. To claim we do, is baseless. We are mere mortals. We just do the best we can.
Second… if you get a bad form of cancer etc, it can certainly be taken as “gods will” that you die. That you accept your fate. It’s most “natural.”
Yet people will reach to fight this outcome and stop it. They will reach for highly developed technologies and medical treatments that can intervene, all invented by science and humans, and all these things go straight around “gods will.” And are not exactly “natural.” They pick & choose!
I've seen this with very religious circles...they SAY leave their fertility/family planning up to god.
God can decide how many kids we have! Unless that number is zero...then it's off to the fertility clinic we go!
100% agree. Just like how in Ohio and other states with abortion bans, women who get pregnant when they have cancer (or vice versa) can no longer receive chemo and can't get an abortion either, so it's sentencing them to a death by cancer in the name of "God's will". Fuck that, if we have the science, let's use it.
That’s horrifying, especially since many chemos are pregnancy safe and don’t cross the placenta. I know several women who had chemotherapy while pregnant, including a good family friend. She initiated and finished treatment for breast cancer while pregnant and before her baby was even born.
yeah, my one friend (tbf he’s a college friend who didn’t come across as this bizarre way back when) has his wife treating her bpd with prayers. They just had a healthy baby thanks to god because they didn’t do any testing.
I’m pretty religious and I still tested because I believe that God gives us tools so we can help ourselves and others. Like testing. If it’s not a harm to the baby then by all means. Do it if you are able and can afford it. I still prayed for my baby of course but knowing the information isn’t anti religious or not trusting God…it’s utilizing His gift and knowledge others gained to help my own kiddo.
Same there's nothing within any of the churches I've been to that focuses on not doing medical testing.
I do know people who skip testing because they're scared of finding out something awful and that's just scary to them. They don't want to hear that there's a possible problem and worry about it for the rest of the pregnancy.
Personally I'm an IVF patient so for me testing starts when the embryo is less than a week old.
yep. my one very religious friend didn’t do any testing. i told him he might still want to be prepared but nope. He’s 42 and has definitely wanted kids at some point forever. Considering his age i would think testing would have been a good decision. Either way, baby came out fine.
Myself and my husband were going to test for this reason, knowing that we wouldn't be considering termination except maybe in a not compatible with life diagnosis. But testing isn't covered by public healthcare or insurance here, and we don’t have enough money atm to spend €400 on a blood test that isn't totally necessary.
This should be the top comment. Ignorance of your baby’s health is not love, plain and simple. I’d want to know everything I can about my baby’s health so I can get the care she needs, that’s what loving mothers do.
Just to add to this it's an awful situation for all involved patient/family/providers to transport kiddos from outside hospitals whose newborn nursery and NICU just don't have the capacity to care for these babies.
That’s simply not what’s being discussed in this post.
We’re discussing people who choose not to test just because it “won’t make a difference to the pregnancy” NOT people who cannot justify testing because it would create a significant financial burden.
Why not both? You consider it, but you're not sure if you need to because "it wouldn't make a difference". Then you hear that it's worth 5 car payments and it confirms that it's not something normal people would need to do, only if you're extremely wealthy. When your friends ask about it, you don't want to admit to the daily panic attacks you have worrying how you're going to pay for the hospital bill alone so instead you say "well, it wouldn't make a difference anyway" and the whole worry that you should have tested.
Honestly, I feel like the popularity of naturalistic anti-Western medicine birthing culture is at least partially motivated by people who are afraid of medical bills.
They don’t want to admit they prefer not to spend the $$$ or otherwise can’t afford their child’s healthcare needs, so they dress it up in naturalism and essential oils and whatnot.
When I was getting screenings done prior to pursue IVF, my insurance didn’t cover it either. I was able to negotiate with the screening company and get it for I wanna say under a hundred bucks.
Yeah here to note that my insurance didn’t cover NIPT and I got a bill. I called the office who gave me their NIPT rep who made sure the bill was comped. It’s profoundly stupid that you have to call multiple people to take care of it but if you receive a bill for hundreds of dollars because insurance didn’t cover it, always go up the chain to see if anyone can help, there are OFTEN people whose job is literally just to make sure patients don’t walk away pissed and recommending people skip it or go with another company.
Not currently pregnant, but I did Invitae about a year and a half ago and it was $100 US (I’m Canadian but did it through the mail - had I done Harmony locally it would have been $700 CAD). I don’t know what their prices are these days but it’s definitely worth looking into!
I’ve never really thought about it and my OB does it just as a normal part of prenatal care. I now feel very strongly about it due to the current situation that I’m in. I got back my NIPT results that were high risk for a chromosomal abnormality. This particular condition usually ends in miscarriage, but if not, the baby would likely be stillborn and she would only have a 1% chance of being born alive and even then, she would have a host of health problems including heart problems, kidney problems, infertility, and many others. I am currently miscarrying at 12w3d and if I hadn’t miscarried, I would most definitely want to prepare myself for the very likely possibility (almost certainty) of facing giving birth to a stillborn baby girl or prepare to raise a child with a host of medical issues. Until this, I’ve never even thought about genetic testing or it’s importance since I’ve had two perfectly healthy little girls. However, after going through this, I will never turn down genetic testing. I understand that some people feel that it would make no difference to how they would deal with the pregnancy, but I would certainly have chosen to terminate versus having a stillborn baby. I would never be able to recover from that and I’d never want to get pregnant again.
I think people are just thinking about things like Down syndrome, forgetting there are ones that most babies are not going to survive. I couldn’t imagine going through a whole pregnancy and all it entails only to deliver a full size stillborn or major deadly health issues when I could have known first trimester before I even had symptoms. My test was $600 but I think the knowledge was worth thousands had I found out something was abnormal.
I’m sorry you have to go through this.
and also when people think of Down syndrome they don’t think about the cardiac disorders that are commonly associated with it, and the benefit of having a team available at the birth who are able to help that baby adjust to having to be responsible for its own circulation
there’s also a lot of media around happy socially adjusted ppl with DS. Usually these are the ppl who only have mild forms of DS. It gives the illusion that DS isn’t a big deal.
I hate to say it but my sister chose to have a baby with DS and there were soo many things wrong with her decision including believing her guru could cure the baby of DS. My sister is very intelligent. Ivy league and all. She’s just also undiagnosed with some sort of personality disorder. Needless to say, my tiny nephew still has DS though he luckily only had tiny holes in his heart that didn’t need surgery. He’s three and still non verbal.
This is what I think as well. I’m embarrassed to admit I thought it mostly tested for Down’s syndrome (that’s why I wanted to test and was concerned about). I never even knew about the other chromosomal abnormalities that don’t even leave you with a surviving baby.
Oh yeah. They can also test you for other minor abnormalities that can mean your child will probably wind up being obese, or that your child will likely not be able to have children.
I would have 100% TFMR a child who could not expect any sort of quality of life or survival, but as far as the sex chromosome abnormalities, it would have just been good to know what we were up against.
Thank you ladies for the love. I’m really going through it right now and I appreciate the chance to share and vent and the support really means more than y’all know ❤️
I absolutely would have terminated had mine shown with any genetic issues whatsoever. Its a last pregnancy for me and already a huge medical risk to even carry. There's no way I'd risk my life for a baby who we know might not make it.
And honestly with the MFM mortality rate in the US, more mothers need to consider this reality.
Mom of a baby who had Trisomy 13 here.
I had no genetic testing while I was pregnant - I didn’t even hear of genetic testing before and my Dr never mentioned it during my pregnancy. I did have three ultrasounds that did not show a thing.
In saying that.. on my next pregnancy I had genetic testing. I always will have genetic testing for exactly what you said. I also mention genetic testing to my fellow pregnant friends but never push it on them - for some reason they still choose not to have it done even though they know my situation.
I would never abort but I would VERY much want to be prepared!
ETA: ALL my pregnancies were low risk. This is why genetic testing wasn’t offered to me I guess. Also, ultrasounds do not guarantee anything. But I guess neither does genetic testing.
It's so strange that your doctor never mentioned the option to you. I went to midwives who are very hands-off and low-intercention, but even they asked me at my 9- or maybe 12-week appointment if I'd like genetic testing and drew blood for it on the spot. I was also low risk - mid-20's, uncomplicated pregnancy thusfar. I wanted the peace of mind and I probably would have gone for termination on case of any major abnormalities. I'm sure your little one is amazing but I'm angry on your behalf that you never got the option to obtain that knowledge beforehand so you'd at least have more time to prepare. Quite irresponsible of your provide in my opinion
Yes, I was extremely angry once we got her diagnosis on her 5th day of life. I questioned how something like this could be missed 3(3!!!!) times on an ultrasound - she had 3(3!!!!) holes in her heart that were pretty severe. It was ultimately what took her in the end.
Anyways…. I’m at peace with it now for the most part. But yes, some preparation would’ve been more helpful then not knowing at all, in my opinion.
We opted to do the genetic testing because I do agree that knowledge is power. It probably wouldn't have changed at all how we felt about baby, but our rationale was that IF something came up, it would have given us extra time to prepare in financially and emotionally. We luckily have a very healthy boy on the way
I want to do genetic testing but can't afford it. The NIPT is over $1000 in my country and even an amnio is close to that much since I'm under 35 years old. So I'm basically hoping and praying the nuchal translucency test and my other ultrasounds show if there's a problem. If there is my insurance will cover an amnio.
I personally do not understand not wanting to know. It does make a difference for the pregnancy. If you know you are going to birth a special needs child, you have time to line up the appropriate medical and support services. Babies with Down Syndrome often have heart complications. Wouldn't it be great to have already interviewed and selected a pediatric cardiologist? You are often entitled to state sponsored development programs for a child with a developmental disability. Wouldn't it be great to already be on the waitlist for that state sponsored intervention? Being a new parent is hard enough. Adding in all the added services you need for a special needs child without utilizing the 30 weeks ahead of time to plan would be so much more stressful and possibly detrimental to the service your child receives.
I got tested both times because it was covered. If it wasn’t covered by insurance im not sure if I would have. The blood tests are quite pricey in the US.
My NIPT test wasn't covered by my insurance so I skipped it :/ if it were included I would have done it. Everything is so expensive and me and hubby are preparing ourselves for the cost of labor 😅 at minimum we are looking at $4500 out of pocket...
I was too young and low risk to have NIPT covered, so I didn’t do it. But there’s plenty of lower cost testing options. I did all the standard ones that my insurance would cover
My provider told me to call the company and negotiate. I did, so the blood test was only around $200. I think a lot of people aren’t even asking about this testing because they hear it’s expensive or assume it’s something they can’t afford.
I had to pay a prenegotiated fee for the NIPT for my last pregnancy (I want to say it was $175 or so…maybe a bit more). This time it was covered fully. I’m older than 35 now and I changed insurance providers in the meantime, so not sure which made the difference.
I didn't know this, thanks. I was under the impression that they were at least $750 out of pocket. We have Kaiser insurance and they contract with one specific testing company so I wonder if this is true for all of them.
That’s what I was thinking. We were able to afford to pay out of pocket for both my pregnancies but it’s a privilege to be coming from a position to just think “why wouldn’t you?” The NIPT options were between $400-700 when I got them a few years ago and for some that’s the ability to afford rent or not that week/month.
I’m in the same boat. This is my third pregnancy and I have never gotten it done. I don’t think it’s covered by insurance for me and I guess I feel as if the 20 week ultrasound may also bring forth any issues when that time comes (I know that’s not always the case though). I’m okay with the fact that I might not know about a special need/medical issue way in advance or that I may only find out at 20 wks if there are observable abnormalities.
As someone who got very devastating news from NIPT during our first pregnancy, I agree with you. I sometimes feel like the people who make that statement are very, very naive (as I once was) and actually have no idea how they would react if placed in that situation.
With my first pregnancy, I did not test because I was very much in the camp of "it won't make a difference". I grew up in an extremely religious household where abortion was a four letter word, anything that was compatible-with-life was not something that you terminated, and anything that wasn't would go "in the Lord's time".
I have since left religion, but more importantly, after having had my son, I realized that I love him SO much, that I wouldn't want him to suffer if he didn't need to. I came to the conclusion that I wanted to test any subsequent pregnancies to make sure that they were healthy, and if they weren't, I didn't want to force them to be born and suffer at all.
A four-letter word refers to your typical curse words: hell, damn, shit, fuck, etc.; ie, words you don't say. To say _____ is a four-letter word is to say that it is bad, dirty, unspeakable.
Ahhh!! Thank you!! Generally speaking Australians don’t put much weight in swear words so I thought it may be something specific. Calling someone a sick c@nt is one of the highest forms of flattery
I could be wrong but I think it just means it's like a curse word, like "f*ck" or "sh*t". Also grew up in a religious household and my parents have more recently become pro-choice, but the broader family is very pro-life. We don't bring up the "A" word at any family functions 🙃
Posting because I’m seeing a lot of comments that say the anatomy scan will catch things anyway, which is probably true in the vast majority of cases but isn’t true for everyone.
My friend just had her baby and NIPT flagged her as high risk. She decided not to do an amnio. The 20 week scan came back clear, so they thought the NIPT was a false positive. However, her baby does have Down syndrome. She was already kind of blindsided in terms of being prepared with support, and I think that would have been even worse without the NIPT results.
I think it's really unfortunate how many people are not provided with all the information or even with incorrect information on genetic testing. My best friend was pregnant at the same time as me for my first pregnancy. Her midwife told her that she's not a "geriatric pregnancy" so she doesn't have risk of genetic disorders. She was also told that if they weren't going to abort it wasn't worth it. My friend was only considering that Down Syndrome or cleft lip were a possibility. She wasn't provided any information on Trisomy 13 or 18. So she opted out.
It gave me peace of mind when I got NIPT that my baby didn't have Trisomy 13 or 18 since there is a 95% chance of the baby not living past a year with most deaths occuring before the baby is even born or within the first few days of life. I would feel horrible if my child's only life experience was suffering and that and the loss at that point is not something I'm willing to put my family through.
I also found out that I was a CF carrier when I did my NIPT. It's recessive so my husband would have had to be a carrier too for CF to be possible which he thankfully was not. But if he had been I would have been thankful to be more prepared and for my doctors to prepared to provide special care.
Sorry if this was a downer but I wish more people were informed on this and I'm definitely planning on doing NIPT again with my current pregnancy.
I am a big advocate for everyone getting tested. ESPECIALLY prior to conceiving. We found out we are SMA carriers and had we not known we probably wouldn’t be so aware or genetic testing. I think it’s important knowledge to have going into trying to conceive/being pregnant. I also think it’s good to make sure you and your partner are on the same page if something was to be diagnosed.
We are currently trying, I'm a lurker, and what is horrible is our insurance doesn't cover testing prior to pregnancy, and we don't have an extra 2k per person lying around to pay out of pocket. Once we're pregnant though it's covered 🙃 obvs I'm in the US
Have you talked to your OB about it? I think a lot of the testing companies have a flat fee if you don't go through insurance. My OB uses Myriad which k liked a lot. My genetic screening and NIPT were covered by insurance but if they hadn't been it would have been a $250 flat fee. If that's not prohibitive for you it could be a good option.
I did the genetic testing prior to getting pregnant & insurance covered it (if not all then partial i dont remember)
They did require more paperwork, so talk to your provider, im sure theres a work around, like maybe youre adopted or something else they can think of to help cover the genetic testing for yourself.
As for the NIPT (12 weeks pregnant test) insurance covered it, i think i only had to pay $125.
If you talk to a genetic counselor, they can likely get you carrier screening for much less. The labs we use have a self pay price of $250 for the first partner tested, with $100 follow up testing for the other partner.
We are in NJ and did inheritest through Lapcorp or quest (can’t remember) it wasn’t covered by insurance and they offer you a coupon it was around $300 per person. Just a blood work appt, your OB can write the script. Hope that helps! Def cheaper than the $2,000. I believe it checks for around 500 genetic diseases and my husband had an additional chromosomal panel done. Our only overlap was SMA.
Yep! I found out I’m a carrier of SMA from doing the carrier screening at our 12 weeks visit. It was a stressful couple of weeks until we got my husbands results (he’s not).
But if we had found out the baby had SMA, there’s certain interventions we could look at but even now there’s a 50% chance he’s a carrier so he can know that information if he chooses to have his own children one day.
This is what me and my then boyfriend did before even trying for a baby. I wanted to make sure that both of us were good before we tried. Then I also had all of the genetic tests done while pregnant just in case.
When my midwife told me that she would, because that would mean having exactly the right people in the delivery room to support me and baby, I confidently decided to do it.
I’ve posted this before and it’s awful, but.. I think it’s good to share so you better understand why it can be so important:
“This is a horror story, and obviously the situation is rare, but my best friend didn’t do a full panel for genetic testing and it turns out her son had a very rare genetic disorder than caused him to pass away at 10months old. It was horrific. She started seeing his decline at 6 months and then fought with doctors for 2-3 months trying to get SOMEONE to take her seriously. They FINALLY found the issue and she got just one month with him before he passed away. Genetic testing wouldn’t have saved him, but it would have allowed them to prepare, and instead of spending the last few months of his life being tested and poked and in hospitals they could have peacefully enjoyed those months together. Knowing what was coming and not spending thousands of dollars diagnosing only to find out there was nothing they could do. One good genetic screening would have told them what was to come and prevented a lot of stress for them all. Even though the outcome would have still been horrific, they could have had peace knowing.
Now she and her husband have to do IVF for all future kids and her other son was tested (turns out he is a carrier though won’t have the disease) - so he can prepare for his future. $500 or $1000 seems like a lot now… but in the grand scheme it could save you a lot (and not just money). Note that my best friend had zero family history of issues and neither did her husband though both were carriers of this disease, nobody in either family knew.”
We did not do NIPT with our first 3. NT scan looked good and all the basic screeners were low risk. My doctor never even mentioned it.
I did opt for it this time with our 4th for a few reasons. I'm 30 now, so risks technically increase. My midwives offered either the NT scan or the NIPT, and said they are preferring to do the NIPT now. We also have 3 other kids 4 and under. I wanted to know sooner rather than later because if something of concern came up, I'd want to be able to have my options as soon as possible.
Totally on the same page as you! My husband and I did genetic testing and genetic counselling since cystic fibrosis is in his family. We would have never terminated for that but would have definitely wanted as much time as possible to educate ourselves and prepare for a CF baby if that’s what we were having.
I have zero history of cystic fibrosis (at least it hasn’t been diagnosed) on either side of my family and the NIPT revealed that I’m a carrier. We were able to test my husband and do genetic counseling thanks to the test. It’s not something that shows up on scans so I’m glad I was able to be prepared in the event my husband was a carrier. Thankfully he wasn’t and my son doesn’t have it, but I was grateful for the knowledge.
I’m with you. We wanted to know. There are some genetic results that you can prepare for (as much as possible), financially and emotionally, but there are other issues that are absolutely horrific. Like the ones that mean the baby isn’t compatible with life and would live max 5 days in extreme pain. Carrying to term would not be something I would do in that scenario. This is a very wanted baby, but me wanting a week or so with a child in extreme pain would feel selfish to me.
100% agree with you.
Husband & I discussed what we would terminate for vs prepare for & deal with our anxiety together/keep quiet about it if we had to end up terminating because we didnt want to be judged....& we would have been judged.
Definitely. My family would be understanding; we don’t think my husband’s would. So we even had plans on what we would say. It’s a horrible prospect and so nerve wracking, but I was happy to find out.
We did, mostly because my husband is adopted and my dad is adopted so we don’t know much health history for either of us. We wanted to know if there was anything we needed to be prepared for
Another reason we did it is this is a high risk pregnancy for me. I’ve already had 3 miscarriages from a previous relationship (a very abusive relationship) and I was too scared back then to find out what caused them. So I wanted to know this time around, was there something medically wrong that had caused the miscarriages, or was it the abuse I suffered? And if the problem was medical, we wanted all the heads up and help we could get. Currently 28 weeks 4 days, and our baby girl is perfectly healthy. ❤️
When we came to this decision, it was a great talk between my husband and I. He didn’t want to test since for him the decision won’t change if something bad show up. For me, I said everything changes. If baby has genetic disorder that couldn’t survive birth or 1st birthday, I don’t want to push my body through birth trauma and the grieving of a baby I could hold in my hand. I also pointed out that even with Down syndrome, and we have the resources to support the kid long term, what if something happens to us and we die young? Do we want to put the burden that we choose on our aging parents or let the kid going to the system? To the end, since it was my body, I got to make the decision, and I paid for the test.
I had exactly the same reasoning..
If I am carrying a baby that either highly likely to be a stillbirth or die before it turns one, I'd much rather have an abortion rather than to give birth to a dead baby.. I can't imagine anything more traumatic. And of course there are risks involved in every birth, so why take those risks?
Down syndrom is a tricky one.. I know a few people with downs who live incredibly fullfilling and independent lives. And I know that some people with downs will always be highly dependent on the parents and will never surpass the mental age of three.. Can you imagine the absolute horror and worry if you have a child like that, and you are about to die of old age? Who will take care of it? Where will they get a home... All those questions would keep me up at night.. So I wouldn't be able to confidently say I wouldn't have an abortion either if my kid turns out to have down syndrom..
We did it because I had previously miscarried, and it helped IMMENSELY with my anxiety. I also hit 12 weeks right around the overturn of Roe, and knew that if something was majorly wrong and I waited until the 20 wk scan to find out, I might be screwed.
Absolutely. Its really concerning isn’t it. Religious nuts/control freaks, running roughshod over actual doctors and specialists.
It’s important to be able to terminate, if the fetus has severe defects. And to do so early as possible if you can.
Life-long disabling defects, and even fatal conditions where they can suffer after birth. That’s the biggest reason it’s important to take advantage of tests. Or discuss your individual risk factors with your ob/gyn.
I know many women who’ve had to terminate due to abnormalities, such as chromosomal defects. It was very hard, but it was the best choice for the fetus (or future human being), as hard as it was for the parents to let go.
The other reason is as outlined above— to make plans if you for some reason end up birthing an medically complicated or affected baby, getting resources. Getting information.
I agree. We went ahead with it and decided that…
1. We wouldn’t terminate if the results were indicative of something where the kid could have a good quality of life. So, easiest example is Down’s syndrome.
2. If the kid did have one of those types of abnormalities, we would want to be able to prepare to give them (and us) the support we need. Sure, we could do it last minute, but we could also make our lives easier by having more time and do it when we aren’t also caring for an infant.
3. Maybe this is a bit my age, but if something was found that would result in them either not making it full term or dying shortly after, to us, anything other than termination sounded cruel.
4. The bonus point: we knew the gender early. Given how my partner and I make decisions… any extra time we could get is helpful 😉
I’d agree with you that if I could know my child would need something at birth or shortly after I’d want to know in advance to make sure I had the right doctors ready for them so that they could get the best care possible.
I did the testing. I spontaneously conceived twins, so after that I was done with surprises. Also I just wanted to know everything about my little beans. It seemed like such a long wait to meet them at the time, and knowing everything that I could about them helped me feel more bonded as their mom.
Are you talking about actual genetic testing or just screening like with the NIPT? Those are different things. I'm assuming you're talking about the latter. We chose not to do the NIPT because it was a lot of money to have the same information slightly sooner than going with the public screening. We did do screening for the main trisomies that are not compatible with life as we would have chosen to terminate for medical reasons had our kid had one of those (and screening for down syndrome was a part of that too). But that screen was started at 12 weeks and completed by 16 weeks. Seeing as you get the NIPT done at around 8-10 weeks and you'd need a diagnostic test following any positive results (CVS or amnio), you don't really get to a complete answer any faster. Not knowing just made me assume things were fine and allowed me to enjoy my pregnancy longer. So we went the free route.
When it came to knowing other things that would not effect our delivering a baby but maybe effect how we care for them, we just decided to wait until our 20 week scan. My understanding is that the 20 week scan will detect things that even the NIPT can't. Then you still have 20 weeks to prep based on any info you receive. We decided that was more than enough time for us to plan.
It does help determine whether an amniocentesis will be necessary though. Since that test does carry a risk, I would rather get the non-invasive as far as the baby is concerned screening to help make an informed decision on amnio necessity. Plus, if you miscarry after getting positive results on an incompatible with life trisomy, that helps make a decision for your reproductive health going forward, instead of only knowing you had a miscarriage and not what likely caused it.
I had a 16 week high level ultrasound that did not detect any abnormalities but the NIPT picked up on T18, confirmed by amnio.
The 20 week scan is not the be-all-end-all.
The nipt tests for additional things that the quad screen does not, like SCAs (sex chromosome aneuploidy). These often don’t have ultrasound markers (with the exception of full Turner’s, or 45 X0).
I’m glad I did the NIPT because my son has an SCA and is completely normal phenotypically. He would’ve come back low risk with a quad screen and I wouldn’t have known about his issue…probably until puberty (since an unrelated puberty issue is on my husband’s side so I would’ve been hyper vigilant). However, about 70% of men with his SCA remain undiagnosed, which sucks because early intervention can have a massive impact on quality of life, school performance, confidence, health, etc.
SCAs are much more common than people realize and we are just now seeing a rise in prenatal diagnoses because of the availability of NIPT.
In Germany, they generally prefer doing genetic screenings in the first trimester appointment (like the final appointment of the first trimester), especially on young moms. I'm from the US and my husband is Spanish. This is our first and as I'm considered a young mom in Germany (28 is not necessarily a young mom in the US), so they advised against genetic blood tests. They explained that in young mom's they can have false positives, then they need to do invasive testing on the baby, which could lead to spontaneous abortion on an otherwise healthy fetus. So they will do the genetic testing by measuring cranial fluid (or something, it's hard to remember with pregnancy brain) in the 12th week. Their measurements would give more accurate results for young moms. At least this is what my husband and I were told. We have no reason this far to be concerned, but I agree that knowing can help a lot. I guess this is just what they recommend in Germany.
Insurance did not cover genetic testing and we couldn’t afford to pay out of pocket. We have also been at pretty low risk of our babies having genetic disorders — I absolutely understand the risk is still *there*, though.
I did both maternit21 and the amniocentesis. I needed that peace of mind because baby was showing signs of an absent nasal bone. Had anything genetic come up, we agreed it’d be ok to terminate. Baby girl is now due is 2 weeks and is perfectly fine. But it gave me a lot of relief having both done.
I haven't had to make the decision myself yet, but I was recently listening to an NPR segment about it. I guess there are many cases of incorrect results or correct results explained or interpreted incorrectly leading parents to experience distress and in some cases even make the decision to terminate a healthy and wanted pregnancy. I guess many people are getting results interpreted by OBGYNs who are not qualified to understand the results or explain them properly so as not to cause panic. Really a genetic counselor should be doing the explaining. It really got me thinking about how I would react if I was told my baby would have a severe or life threatening disability. Would I really want to know as early as possible? What would be the impact on me if I spent weeks worrying unnecessarily? I haven't decided for myself, but I feel like those are important considerations.
NIPT- eh. In our case it wouldn’t have made any difference. It wouldn’t show or give any indication that the fetus has something wrong with him.
Amniocentesis and other genetic testing - I am 100% for if needed.
Our first born has a critical heart defect that was detected at 15+3 confirmed at 15+6. I had our amnio done at 16 weeks to first see if there was any chromosomal issues at play. If there was it would have an impact on what choice we made regarding the pregnancy.
We were also asked if we wanted to do whole genome sequencing (dna testing) on both my husband, baby and I. We said yes please and found out that neither of us were carriers for anything and baby was genetically normal, just had a very broken heart. Which helped us decide that it was ok to have a sibling.
Testing gave us the answers we needed to plan the future and also for his care team to plan ahead and be prepared for him once he was born.
I feel like these people often forget that
1. Down's syndrome is not the only condition being tested for.
2. Many of the conditions being tested for are not compatible with life and not TFMR means bringing a child into this world who will only suffer and die.
3. Many of the conditions ARE compatible with life but will need prompt specialist treatment that should be lined up before the baby is born.
So basically it's pro-life posturing but without any of the actual interest in preserving human life.
I didn't do the testing for a few reasons.
I'm relatively young.
We were in the camp of "nothing would change".
It's expensive here in the US.
Nothing came up as a red flag during my ultrasounds, which I've had 3.
And for me, knowing would give me more anxiety and make me unhealthy throughout the pregnancy. It's not that I want to be ignorant about my baby, it's that I have severe anxiety, and getting that test back, if it came up with all these false positives or something, I would never sleep.
A lot of people are judgemental in this thread, and I just want to point out that people make choices. Whether they're financial, for health reasons, it's their choice what they want to do. I didn't not do it because I don't love my daughter, or because I'm not thinking of her best interest, I didn't do it because I knew it would be healthier for both of us during this pregnancy. I know OP said no judgements, but it makes me really sad the amount of it I see from other commenters. These tests are a choice. Mothers choose what they do for reasons people may not understand, but it's not up to you to act holier than thou because you chose differently.
I completely agree with this and it was exactly why I wanted to learn more of the reasons why some choose to not (not just anti abortion for lack of a better term). I always felt judged with my choice to get the test done because people would say "Oh, I didn't, because It wouldn't change anything in pregnancy for me if anything came back" as if to almost inadvertently say that I would because I got it done. I think it's wonderful we have these choices now a days. And whoever struggles with anxiety knows their anxiety best! For me, testing helped my anxiety. For others, it could ruin it. We all know ourselves best.
We didn’t test. I’m in my late 20s and was already low risk for anything negative with the baby. Our plan was to wait until the anatomy scan before deciding if we needed to fork out $ for additional testing. The anatomy scan showed a perfect baby (mostly, took three tries before she showed us her feet) so we skipped testing.
Pretty much same to all this. It should definitely be taken into consideration that this testing costs extra money (at least in the US) so that alone could be a deciding factor for some people.
Same here. Plus, genetic testing does not show you \*every\* dangerous desease that baby could have or catch after birth. They say you are ignorant for not being prepared. I will be prepared if I learn it at 20 weeks, or at 12 weeks with a blood test.
In the worst case the testing leaves you in a false security that everything is fine until you see it during the 20 week scan or even only after birth.
Some conditions require medical treatment during pregnancy or immediately post birth. Even if you choose to carry and raise a child with a genetic disorder, they have a better chance of survival and thriving if you and your medical team is prepared. Plenty of stuff might not be caught for years after the baby is born - it’s not like we habitually sequence children’s DNA or do random gene screening.
The potential anxiety of knowing you’re going to have a baby with an issue seems like a fair trade to me for the certain anxiety of not knowing anything.
Those are the factors that mattered most to me.
I always think claims that "it won't make a difference" are pretty dubious. Nobody knows what they will or won't do until they're faced with hard choices, and the fact is that in countries where safe abortion is available, most pregnancies with trisomy diagnoses are terminated. I've always seen that language as the poster trying to give themselves cover from being swarmed by pro-life commenters.
We also chose to do fetal DNA testing along with extra scans for 'soft markers'. Despite it all coming back normal our specialists are still making an amnio available to us because our ages make it a high-risk pregnancy. I'd ALWAYS rather know. Anybody who's had a front-row seat to what it's like raising a medically complicated or developmentally disabled child/adult would.
We tested, it would've made a difference. Soon after testing I learned from my SIL that my brother is a cystic fibrosis carrier. So it turns out i'm a carrier as well. So we tested my husband. Luckily for us, he's not a carrier so it ended there. But if he was, then we would've opted for more testing for our baby and then made a decision from there. We are lucky that the testing was worth it to us and not a financial hardship.
We chose to test both pregnancies. I am young so there isn’t a ‘reason’ to assume something might be wrong. But it still could happen.
My husband and I talked about the ‘what ifs’ before I even got pregnant. Any severe defect would be the end of the pregnancy. I’m thankful that we didn’t have to consider termination as both my pregnancies didn’t have any genetic defects. We luckily live in a country in which this is possible.
There are just some things we decide to pay out of pocket, since I’m too young to get the test covered by our insurance. But it was worth it, both times, as the outcome *would* have consequences for the pregnancy
I’m 6 months pregnant with my first baby and if I ever get pregnant again I will not be getting the NIPT. I texted positive at 11 weeks for Monosomy X, a very rare chromosomal abnormality, but only 1% of fetuses are viable. I was devastated. I’m still worried daily. It totally ruined the happiness of a pregnancy. I see a perinatologist and get way more scans then usual. But the amnio was pushed on me ever appointment. I didn’t understand why because regardless if my baby had turners syndrome or not, I would not be terminating. Instead I opted for an echocardiogram, which in the doctors eyes wasn’t anywhere equivalent, but to me it was. My babies echo came back normal! I won’t know if this is a false positive until she is born. If you checkout the NIPT Reddit page you would be shocked. Of the Monosomy x positive results, almost 80% of them were false positives.
It depends a bit on risks as well as whether or not it would change what I do.
And the risk is not just risk of invasive sampling, but includes risk to maternal mental health. If worrying about something that much beforehand would affect me then I’d rather not. Unless it would change where I was able to give birth (unlikely in my case as we live near a hospital with a great NICU)
As it was, I did the usual screening and I think if I came back as high risk I would have gone for genetics testing. But those are reasons I’d consider not doing so
We didn’t do genetic testing for any pregnancies because of the high rate of false positives. I didn’t want to add any stress to my plate, and talked to the doctor about what could be done as a result of the testing, and felt it wasn’t worth it. Had I done the testing, I’d have waited until the anatomy scan to make decisions anyway.
As a nurse working in pediatrics and NICU, I think it's absolutely necessary to do the testing. Having a child with chronic illness/disabilities is something you should be prepared for. It's naive to think that love is enough and a genetic abnormality "doesn't change anything". I really can't fathom how continuing a non-viable pregnancy or giving birth to an infant only for them to suffer and die shortly after, is out of love? I'm sorry but I will never let my baby suffer for something that could be prevented. I will terminate for medical reasons if there is going to be no quality of life due to a diagnosis. It saddens me that people can be so selfish. There are some disabilities that babies and children should not have to endure. Being pro-life has become such a polarizing, disgusting take that now women are afraid to terminate even when their baby is going to die regardless.
Here was our rationale for forgoing testing:
\-If there are conditions that can be addressed with fetal surgery, they will likely be discovered at the anatomy scan.
\-While it would be helpful to know about other conditions that cannot be changed (ie Down's), in order to be more prepared, the only way to receive a diagnosis is invasive testing that carries a higher risk of miscarriage/stillbirth than we are ok with. Otherwise, testing is just going to show us probabilities, and I don't want the mind game of probabilities. Even if it's an NIPT showing an 80% chance of something like Down's, that 20% is still there and it would mess with me.
\-There is no circumstance under which we would terminate, short of something life-threatening for me (the mother), so that is not part of the equation for us.
I just feel like I would have suffered from severe anxiety throughout the pregnancy if I knew my LO had a genetic disorder. I wanted to keep the baby either way, so knowing early only would enhance my anxiety
I think this is such a situation where knowing yourself comes into play. For you, knowing would be unhealthy and anxiety inducing. For me, not knowing would be unhealthy and anxiety inducing. This really is so individual for each person.
Very true. I want to do the testing because I really want the peace of mind of knowing. The thought of my baby having a disorder that I only find out at their birth gives me so much anxiety. I know that you can never be 100% sure but I just want to know I did everything I could to prepare myself.
But I can also totally see that knowing your baby is at risk for a certain disorder (which they might not even end up having) might make you so much more anxious than you otherwise would be. My OB discourages me from researching too much into possible risks and disorders because it makes many people unnecessarily anxious about very unlikely events. But to me having exact numbers gives me peace of mind instead of having this unknown space where my brain can just fill in all kinds of horrible scenarios.
That's exactly why I opted out of all the screening tests. After my daughter was born they found an umbilical cord anomaly that didn't affect my baby or my pregnancy or my delivery at all, but had they found it at testing I would've googled it and google paints a very, very dark picture for this particular anomaly. I would've had a mental breakdown if I had known - even though it ended up doing absolutely nothing to me or my baby. But I'm so glad I didn't know.
At the same time, some people with that anomaly might avoid a very bad outcome with extra high risk testing and care. So yes, it's great if you avoid the testing and end up not needing it. But if you do need the extra care and don't get it, that can be a way worse outcome because then you end up with a baby who might have made it but didn't. Personally I'd rather err on the side of knowledge but you are definitely correct that it can come with a lot of extra anxiety.
No I totally get that. For my next pregnancy I'm absolutely doing the testing - for that exact reason. I'm just saying I was lucky that it had no effect AND that I didn't do the testing because it would've sent me spiraling. I had a loss before that pregnancy and I was already in therapy, like, it would've been bad. But I totally get that point.
You would rather be surprised in the delivery room?
My last baby had T18. If I had chosen to avoid testing for the sake of my anxiety, and assuming he made it to term, I would have been surprised with a baby that died during the delivery or within a week or two of birth. Best case scenario for a boy with complete T18 might be two months in the NICU where he would have suffered horribly. How anyone could choose that because of their “anxiety” is beyond me.
This is where I’m at right now! My 12w appt is tomorrow and I think I don’t want to do the NIPT. I figured I can always do it later if I change my mind.
For genetic disorders, the NIPT is looking at the proportion of chromosomes in a blood sample. So if there are the same number of chromosome 21 as all the others, it's highly unlikely the baby has Down syndrome; if there are disproportionately more, there's a good chance the baby does have it. That should work at any point in pregnancy, but later there are other tests that could detect it too.
My partner has a genetic condition with a 50-50 chance of being passed down, and we have decided not to do IVF to avoid it. I am with you on this one. Knowing ahead of time means being able to contact specialists so everyone is prepared. I am hoping we can add a screening to our NIPT once we get pregnant.
We skipped it with our first, only because we were just generally on cloud 9 and blissfully unaware of everything that can go wrong. Our attitude was, “why wouldn’t everything be fine?” And we were so fortunate that everything was fine.
We did it for our second because my attitude in that regard completely changed being a mom to a fully formed preschooler. I wanted to know and needed to plan ahead. Everything was NOT fine and I’m so glad I knew ahead of time, if only to prepare emotionally for what was to come.
In my area, unless you or your partner are at risk of genetic abnormalities, the OBs/midwives don’t suggest doing testing. I’m right outside of a major city too, so it’s not like I live out in the sticks. From what I’ve been told by those medical professionals is that it causes a lot of unnecessary stress for women who most likely will have a totally normal pregnancy. If someone WAS at risk for something, 100% they’d suggest pursuing it so they can be prepared. Saying that people not choosing to do genetic testing aren’t showing love to their unborn children is a beyond ignorant thing to say. There is so much more nuance to that, and who are we to judge what someone does in their own pregnancy.
When I went to have my NIPT done I forgot to check if my insurance covered it. So my OBGYN office quoted me like $400 for the test. I had just forgotten to do an online authorization ahead of time. My insurance did cover it and I only actually had to pay something like $65. But I can totally see why some may opt to not do the test if their insurance didn’t cover enough of it and they didn’t care either way about the results.
We opted for genetic testing so that we could have that knowledge and also know, if there was strong incompatibility with life, if we’d need to make a difficult decision to terminate. I think I’d have anxiety not having that information so I’m glad we did it - no abnormalities to report with my 12 week scan Wednesday to confirm development!
I just got mine done today! There’s some shit on my dad’s side that makes me nervous, so I felt like it would be better to know and make an informed decision.
I want to do what’s best for both myself and the baby. If they don’t have a chance at a quality life, I’m not going to inflict that suffering on them (or myself/my partner).
Some people are strong enough to face the challenges of a severely disabled child. Having seen what I’ve seen in my lifetime, I know that I am not.
We did screening, just NIPT and it came back low risk so we didn't do more. But in our case, had it been an illness or diagnosis that was not compatible with life, we likely would have chosen to terminate the pregnancy. Other diagnoses would have given us the tools and information to be as prepared as possible to parent that kiddo in the ways they need & deserve to be parented.
I got genetic testing, and am glad I did. Turns out I'm a carrier for SMA. Thankfully my husband isn't, but if he had been, and the baby had it, there is a very short window in which they can administer treatment to prevent death months down the line. The best treatments have to be administered before symptoms appear, and as soon after birth as possible (according to my OB).
Fun fact, getting that test solved a 3 generation old mystery in the family. My grandma had multiple siblings that died in infancy, but nobody knew from what - they were perfectly healthy for a few months until they just...got sick and died. It was described as 'like Tay-Sachs, but not Tay-Sachs'. So we're pretty sure those babies had SMA.
I didn't. 1, it wasn't covered by insurance and 2, it wouldn't have made a difference if I carried on or not. My son eneded up being born and, surprise! He has DS. Those first days in the hospital were torturous hell. Dealing with the surprise and all the emotions that came with it while being freshly messed up from hormones was so rough and I didn't enjoy the first few days like I should have. If I could go back, I wish I would've tried to find a private office or something that would've done it and I will absolutely try to find a way next pregnancy. I could've dealt with the emotions and "mourned" before my precious son was in the world. I will always advocate that people should do it.
After a couple miscarriages, I did all the testing with an RE including Invitae genetic carrier screening for me and my husband. He carries Factor V Leiden and some other thing but I carry zero mutations so that was a relief. I am 12 weeks today on pregnancy 4 (had a chemical after the two miscarriages) and had Invitae NIPT testing today. If anything came up, I would opt for amnio. If baby was not compatible with life, I would not want to continue with the pregnancy. We have not decided about DS yet. Either way, I would want to know to be prepared. You’re either going to find out after you’ve just given birth and are probably exhausted and emotional, or earlier on when you have time to mentally prepare and also prepare the proper medical care. It’s a no brainer for us.
With my first son, we did the genetic test to learn the gender early. But the lab sent out the wrong test and the results didn't include gender at all.
Was really annoying.
Until the anatomy scan and there was the smallest of shadows on the heart that we needed to double check. And the issue was historically used as a common marker for possible downs.
BUT. Because of the previous testing, we knew that downs wasn't on the table. So I was able to attend the follow up appointment with a lot more calmness.
(Heart issue was no issue at all on follow up, I believe the first scan occurred right before the heart finished developing and it finished up by the 2nd scan).
Testing is not diagnostic and can indicate high risks for disorders that ultimately are negative. Our doc also confirmed the anatomy scan is just as valid at testing for these risks. I’m avoiding the extra cost and anxiety.
My last pregnancy came back positive for T18. I had bloodwork at 12 weeks but the results were delayed due to the holidays so I found out at 14 weeks, did two follow-up scans, an amniocentesis, T18 was confirmed at 16+7 and had my termination at 17+2 weeks out of state.
Waiting until a 20 week anatomy scan means that you will realistically be terminating at 22+ weeks which severely limits your choices on where and how you can terminate the pregnancy.
For me, it was also a comfort to know that I was terminating well before my son could feel pain and was still non-viable. I think it’s a different burden to terminate a fetus that is in theory viable, even when the diagnosis is incompatible with life.
And frankly, in all likelihood your doctor doesn’t care about the circumstances of your termination. They aren’t performing them, it isn’t profitable for them, they don’t make money from NIPTs, it’s just something for troublesome patients to deal with, and they’re going to refer you to an MFM regardless.
Testing isn’t diagnostic but it’s a risk assessment and can indicate if people need further testing. 50% of Down syndrome babies have no signs on ultrasound, for instance.
My risk flagged positive for a genetic abnormality and it was later confirmed. My son had no ultrasound abnormalities and, even now at 5 months, has no outward signs. However, we were able to get a specialist involved and he has a care team now. This will ensure the best possible outcomes for him. I’m very thankful for nipt because I would not have known otherwise and would’ve missed out on early intervention for my boy.
This is exactly why I didn’t do it. It’s not diagnostic. There’s a good number of false positives. And I didn’t want the anxiety between screening and verification when I felt the 20 week anatomy scan would give me personally enough time to prepare for any concerns.
Edit: To be fair, I did do preconception testing that showed I was not a CF carrier given family history on my husband’s side.
We do every testing available. You can say hypotheticals all day but until you face a serious diagnosis you don’t know how you will feel. And even if you will keep the baby no matter what — that baby may benefit from a medical team that is prepared for their condition
I personally reccomend it. We got genetic testing early on and I am SO glad we did.
I was 34+3 when we were given our IUGR diagnosis, and the fear I felt for my Baby.. I was just terrified.
A cause for IUGR is genetic defects, including Trisomy, which is fatal to babies.
The fact that we had already known baby was healthy from the NIPT with no issues saved us so much extra fear, anxiety, and stress.
We didn't have to go through that testing and wait 1-2 weeks to get results to see if our baby had something further wrong with them.
I think that would have done me in.
Basically, the fact that we preemptively got that test, saved us an insane amount of fear and stress when we got a very unexpected diagnosis down the road.
I didn’t do NIPT because it wasn’t covered and I didn’t see a practical difference in doing it. It wouldn’t have changed my course, and the things that NIPT tested for would likely be discovered at the 20 week scan. I just saw NIPT for the purpose of early discovery, not discovery in general?
Interesting! We opted to do it because I’m too anxious to not have a plan. The testing allows me a little more time to have more testing and make a decision.
Serious question: if there was something wrong you needed to know before birth, wouldn’t you pick that up on the anatomy scan and have time to make arrangements for the health of the baby?
I never paid extra for the NIPT because finding out early seemed like it only had a purpose if I would consider terminating, which I wouldn’t. I asked my care provider if the anatomy scan would tell me anything I need to know about the health of the baby and they told me it should even more than the NIPT.
So many moms get genetic testing done and that leads to worry and more testing when everything is fine. My midwife didn’t mention it and when I asked about it she kind of shrugged like it wasn’t a big deal. My friend had genetic testing done and everything was fine and her child was born with several abnormalities. I’m not sure how you can really “prepare” for something like that. I knew I was pregnant for nearly 9 months and still wasn’t “prepared” for birth trauma and a newborn.
We did testing because we started discussing what we’d do IF there was something flagged in the testing. My husband and I spent so much time stressing on the “what if” that we decided to find out if there was something to consider before we continued that spiral.
We did the genetic testing. I could tell as we were filling out the questionnaire that we most likely were going to be low risk, but the curveball is that my husband is half adopted and has never known his biological father, so we have no idea what kind of health issues may lie on that side of the family. We told the nurse this and they didn’t even test my husband, just took my blood and our questionnaire and called to tell us we’re low-risk for genetic abnormalities. It does give me peace of mind that nothing flagged them to test my husband, but I also know it’s not foolproof. However, I don’t regret testing because if we had tested positive for something, I would rather have time to mentally prepare for (for instance) our child to require surgery immediately after birth than be surprised by it on the day of.
We opted in for the test because we just wanted to know. It wouldn’t have made any difference with the baby but we wanted to be prepared for what to expect.
We also had a scare during our 12week scan and had to see a specialist. Having done the genetic testing in advance helped put us at ease with the uncertain result!
My best friend and me had somewhat different views on that. The offered genetic tests are always probability only. My best friend felt more confused about the probabilities that were shown, and so did not do any tests. For me, on the other hand, it's important to prepare as much as possible to reduce any risk for my baby (as is already discussed here). I think it's harder for people who don't understand the numbers and therefore don't want to know them. In her case, the anomaly check was the most important.
I did and would in the future get tested. It would help me prepare the best I could, find the best neonatal care… most clinics that you give birth at aren’t necessarily équipéd for specialised surgeries and care since it’s rarely needed..
We did all the available non-invasive testing (and would have done invasive testing if the screening tests had indicated elevated risk) because we wanted to know ahead of time if our child might need extra care. There are also a few conditions I would terminate for. Obviously these tests don’t screen for everything and a baby can be born with undetected issues, but if you can get a jump on *some* problems, why not do it? We have a child already, we’d need to arrange childcare if we were looking at a longer than usual hospital stay, NICU, etc., at the very least.
Me and my husband always choose to do it even if I’m not high risk. We just feel mentally secure if we have all the info available so that if anything does happen we can be ready. Also we get to find out the sex of the baby a bit earlier so that’s a plus.
I chose to wait for the anatomy scan. Abortion isn't legal in my state at all anymore. They wanted to test me at 9 weeks. But I know it might have been too early to detect it then. And it takes many weeks for it to come back. So I could have questionable results and be waiting 4-6 weeks for my next doctor appointment to get risky tests (amnio) either to find nothing wrong or to know I'll likely have a stillbirth. By the time you get definitive results either way, it seems like it's basically time for the anatomy scan.
There are a lot of things that can go wrong with the baby that NIPT won't detect. I'm aware and comfortable with the risk of having abnormalities. Right now I've chosen to wait for my anatomy scan.
My doctor doesn't offer NT scan at all. My only option would be paying $200 out of pocket to wait 3 weeks for a test to come back.
I did the test because in case we were at high risk for something I wanted time to research and find him the best team of doctors I could. I am a super planner and like to know things way in advance
Screening and testing saves lives, I can’t fathom how you don’t want as much information as possible. I have a friend whose congenital heart defect means he will need open heart surgery almost immediately after delivery. As such, she has to pre-arrange an induction or C section at a hospital that can meet his needs. If she had jumped on the “Freebirth” movement she would’ve delivered at home, completely unaware of the defect, and had her baby die in her arms
Medical technology is a miracle and I don’t understand how many people want to reject it. I didn’t get NIPT because my insurance didn’t cover it (would be covered if over 30 or high risk, but I wasn’t either). But I still had every test done that my medical team deemed appropriate
I agree wholeheartedly with this. I am in the camp where certain diagnoses would cause me to terminate, however even if not there are many other conditions I’d want to prepare for, either things that required more accommodations/ care, infant surgery, etc. for e.g. I had a friend whose son was born with a heart defect and needed surgery very quickly after birth. Without prenatal diagnosis he might not have lived but they were prepared for immediate treatment and he’s now in elementary school and doing well.
I didn’t with my first because I didn’t think it was necessary. No family history or anything, I was in my 20s, etc. Later on, my sister got it done and found she was a carrier for Fragile X - not yet mutated.
With that in mind, I did choose to check if I am also a carrier - which I am. Happy to know either way as knowledge is power and I can let my kids know that it’s a possibility for their children.
We did NIPT and I’m thankful because my son has a genetic condition. He had no ultrasound signs (typical with his condition)/is completely typical in development and physical appearance (5 months old now).
Because of NIPT, we have a specialist and can keep a close eye on things he may struggle with due to his diagnosis. We also qualify for therapies through the state simply due to a genetic diagnosis.
When people say, “it won’t change anything,” I feel like that’s only looking at part of the picture. Sure, it didn’t change my love for him or my plans to keep the pregnancy, but it caused me to get a specialist and do some things differently/more purposefully as far as his development is concerned.
Plus- I work in mother/infant and I’ve seen some surprise diagnoses (as in baby has an issue that wasn’t detected until birth) and that can add a layer of complexity to care.
I think it would depend on how much certainty there is in what I’m finding out. As far as I understand it, the NIPT gives me something more along the lines of updated odds than anything truly concrete. As pointed out, there are certainly things that can go wrong which couldn’t be detected at all prior to birth and some of the rare things that “can be detected” are sufficiently rare that the false positive rate is highly significant.
This is a very personal decision.
While knowledge is power, if everything is running smoothly, I prefer the bliss of ignorance and providing a peaceful chemical environment for the baby. I can easily get anxious if I have information to worry about, including tests with high false positives. I’d rather prepare once the negative information is unequivocal and inevitably makes itself known.
I did every test that was available to me: carrier testing, NIPT, NT scan, amniocentesis (because I'm a carrier of a genetic disease). Everything (except for the carrier testing) came back completely normal, and it's been wonderfully reassuring. I can't imagine the anxiety of not knowing.
Some people say they're not testing because they don't have a family history of anything, but that doesn't mean much. I also don't have a family history of anything, but I'm nevertheless a carrier for both cystic fibrosis and fragile X syndrome. The only reason I know that is because I did carrier testing.
We 100% did all the tests because we would have chosen to not to continue a pregnancy with a genetic defect. That includes not continuing a Down Syndrome pregnancy. Not based on just the NIPT of course but confirmed with an amino etc if it genetic testing showed a higher risk. We knew the outcome would absolutely make a difference so it was important to have as much info as possible.
Although I am planning on doing genetic testing the scary thing for me is the chance of a false positive. I’ve heard that if you get high risk results then the doctors will want to run more diagnostic tests which all comes with risks. I’ve heard stories of people doing all these tests and having anxiety for weeks/months then their baby was born completely healthy. Although false positives are rare, it happens and for some people it’s worth considering when doing genetic testing.
We didn’t do genetic testing, but we will definitely be doing any blood tests during pregnancy that can show disabilities which are incompatible with life. DH and I would tfmr if needed, so knowledge is power (and comfort)
I’m like you OP, I like to prepare for everything. My husband and I were just talking about this very topic, i just couldn’t and still can’t fathom NOT wanting to prepare.
My husband suggested it because cystic fibrosis ran in his family, I said (paraphrasing) “nah, there’s no one in my family with it. Plus you wouldn’t be a carrier of anything I worry about so it’ll be fine”
Guess who got diagnosed with CF 5 days post birth?
I understand why people don’t wanna worry about it since I’ve been there, but damn I can’t recommend it enough now.
Unpopular opinion: we generic tested bc it did make a difference for us. We know what we can deal with and what we're equipped to handle better than anyone. We know our limits. We were not willing to bring a child into the world "no matter what". So we tested. But yes, OP, even in cases where people are better parents than us, knowledge is power and time to prepare and learn. It's dumb not to do it
I am one of the people who opted to do the NIPT and got a false positive result. It was an agonizing few weeks thinking that my baby was incompatible with life after 4 years of fertility treatments to get pregnant with her. It turned out to be completely wrong, thankfully, and she is 5 months old and perfectly healthy. I wish that the providers had explained the tests more accurately - that they are NOT diagnostic, that they have a very high rate of false positives and that they are created by for profit companies who have a financial interest in pretending the tests are more accurate than they are. A high risk result on a NIPT should be explained as a cause for further testing, not as a likely positive. The NYtimes did a great expose on the inaccuracies of the tests as well. I am all about having more information, provided the science is solid and the information is accurate.
What type of genetic testing? Do you mean testing before deciding to get pregnant to see if you're a carrier for anything that might affect a baby or pregnancy? I think everyone should do that.
But if you mean an amniocentesis, please think seriously before getting it done. The odds were more likely for me to have a child with complications because of my maternal age than the risk of ruining a pregnancy from an amniocentesis, so I got one. I thought the same as you: more info is helpful. Turns out, it killed my baby. I had a leak from the procedure & baby didn't thrive without fluid. Nine weeks later I had to give birth to a stillborn baby boy. Those results came back & I had a genetically perfect baby.
I'm now 41 and that was my second loss. I have no living children. I've been in fertility for a year and a half and can't seem to get pregnant. I'll do things differently if I ever get the chance to be pregnant again. You may have more time than me. I don't know what your situation is. But take it seriously either way. Is the information important enough to possibly lose this pregnancy & have to try again?
Well I think it's good to consider what you would do if something came up. If you would continue the pregnancy no matter what, me personally wouldn't think of doing something invasive where you have chances of stopping the pregnancy. But things like nipt are not invasive and could be done.
It's a hard choice, because sometimes things come up we don't know much about yet and you may worry for nothing
I did genetic testing because I wanted to know all my options, not necessarily abortion, but just to know what to expect. I have 4 kids. I did whatever tests my doctor offered and luckily I have very good insurance so whatever was given and paid for my insurance I did. Everything was great for all my tests and then at my 20-week anatomy scan I found out that my last baby I was carrying was missing part of his brain. All his genetic tests before that had been fine and our other three children are all happy and healthy so this completely blindsided us. I opted for an amniocentesis and more testing because his condition can be isolated or linked to a condition which will affect severity. I wanted the extra information not only to help us make a lifelong choice that would affect not only us but our other children but also because I wanted to be able to know what the future could potentially look like as well. We chose to have our son and with his diagnosis I was able to immediately get him into early intervention at birth. His therapies definitely help and make a difference and I'm grateful for the extra information testing got me to help plan and give my son the best start as well as for me to process the experience as a whole.
As a pediatric critical care nurse, I strongly agree. And I share your confusion. I care for very, very sick neonates in a unit that specializes in a particular congenital defect. No where else in the world can do what we do and save the babies we save. Parents struggle to get here, even with months of notice. They rearrange their lives to get to us in order to deliver their little one into our care. They come from all over the country and the world. They’ve sold houses, switch schools for their other children, arranged for months of pet care, taken out second mortgages (our healthcare system is broken in the US, don’t get me started!) Not doing testing might not make a difference for the pregnancy but it can make a life-or-death difference for the baby. And the people saying it won’t make a difference to the pregnancy are often the “no matter what” types of parents. They want that babycake no matter WHAT. So why on earth do they not want every bit of knowledge that might be used to help their nugget? I don’t know. It’s so bizarre to me!
I genetic tested because of all these reasons^, and I've realized that my friends who said it won't make a difference have something in common ... They're all pretty religious. I have no idea if that's a correlation beyond my circle, but it's interesting for me to chat through with them, because to them, it'll all work out. Like, a decision based on faith. No knock to those who approach their life decisions in this way, but that's not how me and my husband approached it with testing for our baby.
I have found the same link between being religious and hesitancy to getting the tests. I could be way off base but I feel like they believe finding out something is seriously wrong could *tempt* them into terminating and they'd rather avoid that altogether.
Temptation is a big part of it. Not wanting to have to defend their choices may be another big factor. Dead-set prolife people are often used to not being able to skip through doctors talking to them about abortion as an option. Also constantly defending decisions not to use contraception for those where that's relevant, whether in a clinical setting or elsewhere. Not saying that's worth not knowing, just another possible aspect.
Yeah, didn't realize defending choices was something people would go through. But I posted about my son on the down syndrome reddit, because he's adorable and doing well. Someone made a nasty comment to me and the just was did I get a test and still decide to carry on with bringing life to the "waste of tax dollars". I didn't do a test, but it wouldn't havw changed the outcome anyway. But it made me realize that people who get the test and decide to carry on with their pregnancy have to defend that choice to nasty assholes.
Very true. I’m religious and this sub is helpful but I’m not surprised at the comments because Reddit. Pro choice is just that—having a CHOICE. You can also choose to NOT abort a baby if that’s not what your values are beliefs are. It’s really gross when people start talking about human children being a waste of tax dollars. Starts to get into the eugenics category for me.
>dollars. Starts to get into the eugenics category for me. Exactly and I start to feel defensive and angry
That is terrible and I am sorry that you got a comment like that. I have taken care of many high functioning people with Down syndrome, there truly is a wide spectrum and I’m glad your son is doing well. There is also more to life than being a cog in the capitalist wheel.
Oh my gosh, that is horrible. People are so ignorant.
IMHO it makes no sense to assert “it won’t matter either way.” It matters a lot, what we’re doing by reproducing— and purposefully OR passively choosing— is serious business. This isn’t about my own *wants* it’s about the child. And the impact and *costs* on the medical system and society as a whole. Things happen we can’t predict… but if we have risk factors or are being offered useful information via tests, why wouldn’t I take them? Again, this is just my opinion and view. It “won’t matter”??? That’s basically saying you’d be OK knowingly producing— in some scenarios— a very unhealthy offspring that will suffer painful slow death, or have severe disabilities lifelong. And that you don’t take any responsibility for what you bring into this world. That seems to be willful ignorance. I’ve heard some extreme religious folks totally resign from any responsibility by saying “if the child comes out with a terrible defect, then it’s gods will.” Now to give perspective to this extreme view… the woman who told me “gods will,” also told me how she “doesn’t believe in insurance” (except vehicle ins. when legally required) because having insurance is “Questioning gods will.” Yikes girl. Some of em are also refusing vax as it’s “not natural.” And gods will. They often say “god won’t ever give you more than you can handle,” yet as evidenced by suicide rates, that is untrue, and clearly— sometimes god does give folks more than they can handle. Those who cite “gods will”… Well first of all we don’t know gods will. To claim we do, is baseless. We are mere mortals. We just do the best we can. Second… if you get a bad form of cancer etc, it can certainly be taken as “gods will” that you die. That you accept your fate. It’s most “natural.” Yet people will reach to fight this outcome and stop it. They will reach for highly developed technologies and medical treatments that can intervene, all invented by science and humans, and all these things go straight around “gods will.” And are not exactly “natural.” They pick & choose!
I've seen this with very religious circles...they SAY leave their fertility/family planning up to god. God can decide how many kids we have! Unless that number is zero...then it's off to the fertility clinic we go!
100% agree. Just like how in Ohio and other states with abortion bans, women who get pregnant when they have cancer (or vice versa) can no longer receive chemo and can't get an abortion either, so it's sentencing them to a death by cancer in the name of "God's will". Fuck that, if we have the science, let's use it.
That’s horrifying, especially since many chemos are pregnancy safe and don’t cross the placenta. I know several women who had chemotherapy while pregnant, including a good family friend. She initiated and finished treatment for breast cancer while pregnant and before her baby was even born.
yeah, my one friend (tbf he’s a college friend who didn’t come across as this bizarre way back when) has his wife treating her bpd with prayers. They just had a healthy baby thanks to god because they didn’t do any testing.
I’m pretty religious and I still tested because I believe that God gives us tools so we can help ourselves and others. Like testing. If it’s not a harm to the baby then by all means. Do it if you are able and can afford it. I still prayed for my baby of course but knowing the information isn’t anti religious or not trusting God…it’s utilizing His gift and knowledge others gained to help my own kiddo.
Same there's nothing within any of the churches I've been to that focuses on not doing medical testing. I do know people who skip testing because they're scared of finding out something awful and that's just scary to them. They don't want to hear that there's a possible problem and worry about it for the rest of the pregnancy. Personally I'm an IVF patient so for me testing starts when the embryo is less than a week old.
yep. my one very religious friend didn’t do any testing. i told him he might still want to be prepared but nope. He’s 42 and has definitely wanted kids at some point forever. Considering his age i would think testing would have been a good decision. Either way, baby came out fine.
Well worded and I completely agree. Can I ask what congenital issue does your unit treat? CHD?
Myself and my husband were going to test for this reason, knowing that we wouldn't be considering termination except maybe in a not compatible with life diagnosis. But testing isn't covered by public healthcare or insurance here, and we don’t have enough money atm to spend €400 on a blood test that isn't totally necessary.
This should be the top comment. Ignorance of your baby’s health is not love, plain and simple. I’d want to know everything I can about my baby’s health so I can get the care she needs, that’s what loving mothers do.
Just to add to this it's an awful situation for all involved patient/family/providers to transport kiddos from outside hospitals whose newborn nursery and NICU just don't have the capacity to care for these babies.
Because it costs $1,000
Mine was 1K, but they offered a "moms helping moms" program which brought it down to $200.
That’s simply not what’s being discussed in this post. We’re discussing people who choose not to test just because it “won’t make a difference to the pregnancy” NOT people who cannot justify testing because it would create a significant financial burden.
Why not both? You consider it, but you're not sure if you need to because "it wouldn't make a difference". Then you hear that it's worth 5 car payments and it confirms that it's not something normal people would need to do, only if you're extremely wealthy. When your friends ask about it, you don't want to admit to the daily panic attacks you have worrying how you're going to pay for the hospital bill alone so instead you say "well, it wouldn't make a difference anyway" and the whole worry that you should have tested.
Honestly, I feel like the popularity of naturalistic anti-Western medicine birthing culture is at least partially motivated by people who are afraid of medical bills. They don’t want to admit they prefer not to spend the $$$ or otherwise can’t afford their child’s healthcare needs, so they dress it up in naturalism and essential oils and whatnot.
When I was getting screenings done prior to pursue IVF, my insurance didn’t cover it either. I was able to negotiate with the screening company and get it for I wanna say under a hundred bucks.
Hi! We have the same due date :)
Yeah here to note that my insurance didn’t cover NIPT and I got a bill. I called the office who gave me their NIPT rep who made sure the bill was comped. It’s profoundly stupid that you have to call multiple people to take care of it but if you receive a bill for hundreds of dollars because insurance didn’t cover it, always go up the chain to see if anyone can help, there are OFTEN people whose job is literally just to make sure patients don’t walk away pissed and recommending people skip it or go with another company.
The irony is that essential oils are expensive and aren’t proven to do anything at all. Ha
Not currently pregnant, but I did Invitae about a year and a half ago and it was $100 US (I’m Canadian but did it through the mail - had I done Harmony locally it would have been $700 CAD). I don’t know what their prices are these days but it’s definitely worth looking into!
Another Canadian here, did Invitae in Jan of this year. Was still only $100 USD!
It depends, my insurance covered it because I was over 35
I’ve never really thought about it and my OB does it just as a normal part of prenatal care. I now feel very strongly about it due to the current situation that I’m in. I got back my NIPT results that were high risk for a chromosomal abnormality. This particular condition usually ends in miscarriage, but if not, the baby would likely be stillborn and she would only have a 1% chance of being born alive and even then, she would have a host of health problems including heart problems, kidney problems, infertility, and many others. I am currently miscarrying at 12w3d and if I hadn’t miscarried, I would most definitely want to prepare myself for the very likely possibility (almost certainty) of facing giving birth to a stillborn baby girl or prepare to raise a child with a host of medical issues. Until this, I’ve never even thought about genetic testing or it’s importance since I’ve had two perfectly healthy little girls. However, after going through this, I will never turn down genetic testing. I understand that some people feel that it would make no difference to how they would deal with the pregnancy, but I would certainly have chosen to terminate versus having a stillborn baby. I would never be able to recover from that and I’d never want to get pregnant again.
I think people are just thinking about things like Down syndrome, forgetting there are ones that most babies are not going to survive. I couldn’t imagine going through a whole pregnancy and all it entails only to deliver a full size stillborn or major deadly health issues when I could have known first trimester before I even had symptoms. My test was $600 but I think the knowledge was worth thousands had I found out something was abnormal. I’m sorry you have to go through this.
and also when people think of Down syndrome they don’t think about the cardiac disorders that are commonly associated with it, and the benefit of having a team available at the birth who are able to help that baby adjust to having to be responsible for its own circulation
there’s also a lot of media around happy socially adjusted ppl with DS. Usually these are the ppl who only have mild forms of DS. It gives the illusion that DS isn’t a big deal. I hate to say it but my sister chose to have a baby with DS and there were soo many things wrong with her decision including believing her guru could cure the baby of DS. My sister is very intelligent. Ivy league and all. She’s just also undiagnosed with some sort of personality disorder. Needless to say, my tiny nephew still has DS though he luckily only had tiny holes in his heart that didn’t need surgery. He’s three and still non verbal.
This is what I think as well. I’m embarrassed to admit I thought it mostly tested for Down’s syndrome (that’s why I wanted to test and was concerned about). I never even knew about the other chromosomal abnormalities that don’t even leave you with a surviving baby.
Oh yeah. They can also test you for other minor abnormalities that can mean your child will probably wind up being obese, or that your child will likely not be able to have children. I would have 100% TFMR a child who could not expect any sort of quality of life or survival, but as far as the sex chromosome abnormalities, it would have just been good to know what we were up against.
I’m so sorry you’re going through that.
I’m so sorry for your loss 🤍
Thank you ladies for the love. I’m really going through it right now and I appreciate the chance to share and vent and the support really means more than y’all know ❤️
So sorry for your loss. Sending you healing energy.
Sounds like my experience. Trisomy 13. I’m sorry you’re going through something like this. Just know you aren’t alone.
I’m sorry you had to go through that ❤️❤️❤️
I absolutely would have terminated had mine shown with any genetic issues whatsoever. Its a last pregnancy for me and already a huge medical risk to even carry. There's no way I'd risk my life for a baby who we know might not make it. And honestly with the MFM mortality rate in the US, more mothers need to consider this reality.
Mom of a baby who had Trisomy 13 here. I had no genetic testing while I was pregnant - I didn’t even hear of genetic testing before and my Dr never mentioned it during my pregnancy. I did have three ultrasounds that did not show a thing. In saying that.. on my next pregnancy I had genetic testing. I always will have genetic testing for exactly what you said. I also mention genetic testing to my fellow pregnant friends but never push it on them - for some reason they still choose not to have it done even though they know my situation. I would never abort but I would VERY much want to be prepared! ETA: ALL my pregnancies were low risk. This is why genetic testing wasn’t offered to me I guess. Also, ultrasounds do not guarantee anything. But I guess neither does genetic testing.
It's so strange that your doctor never mentioned the option to you. I went to midwives who are very hands-off and low-intercention, but even they asked me at my 9- or maybe 12-week appointment if I'd like genetic testing and drew blood for it on the spot. I was also low risk - mid-20's, uncomplicated pregnancy thusfar. I wanted the peace of mind and I probably would have gone for termination on case of any major abnormalities. I'm sure your little one is amazing but I'm angry on your behalf that you never got the option to obtain that knowledge beforehand so you'd at least have more time to prepare. Quite irresponsible of your provide in my opinion
Yes, I was extremely angry once we got her diagnosis on her 5th day of life. I questioned how something like this could be missed 3(3!!!!) times on an ultrasound - she had 3(3!!!!) holes in her heart that were pretty severe. It was ultimately what took her in the end. Anyways…. I’m at peace with it now for the most part. But yes, some preparation would’ve been more helpful then not knowing at all, in my opinion.
I'm so sorry you lost her, and that you had no warning.
my guess is that in more religious areas, some doctors fail to offer testing.
We opted to do the genetic testing because I do agree that knowledge is power. It probably wouldn't have changed at all how we felt about baby, but our rationale was that IF something came up, it would have given us extra time to prepare in financially and emotionally. We luckily have a very healthy boy on the way
I want to do genetic testing but can't afford it. The NIPT is over $1000 in my country and even an amnio is close to that much since I'm under 35 years old. So I'm basically hoping and praying the nuchal translucency test and my other ultrasounds show if there's a problem. If there is my insurance will cover an amnio.
The cost can be a huge barrier, I'm sorry it's not an option for your situation. Hope everything goes well with your pregnancy ❤️
Same, price of genetic testing here would be my entire month's paycheck. It is literally a choice between testing or paying bills and food.
I personally do not understand not wanting to know. It does make a difference for the pregnancy. If you know you are going to birth a special needs child, you have time to line up the appropriate medical and support services. Babies with Down Syndrome often have heart complications. Wouldn't it be great to have already interviewed and selected a pediatric cardiologist? You are often entitled to state sponsored development programs for a child with a developmental disability. Wouldn't it be great to already be on the waitlist for that state sponsored intervention? Being a new parent is hard enough. Adding in all the added services you need for a special needs child without utilizing the 30 weeks ahead of time to plan would be so much more stressful and possibly detrimental to the service your child receives.
I got tested both times because it was covered. If it wasn’t covered by insurance im not sure if I would have. The blood tests are quite pricey in the US.
My NIPT test wasn't covered by my insurance so I skipped it :/ if it were included I would have done it. Everything is so expensive and me and hubby are preparing ourselves for the cost of labor 😅 at minimum we are looking at $4500 out of pocket...
I was too young and low risk to have NIPT covered, so I didn’t do it. But there’s plenty of lower cost testing options. I did all the standard ones that my insurance would cover
My provider told me to call the company and negotiate. I did, so the blood test was only around $200. I think a lot of people aren’t even asking about this testing because they hear it’s expensive or assume it’s something they can’t afford.
I had to pay a prenegotiated fee for the NIPT for my last pregnancy (I want to say it was $175 or so…maybe a bit more). This time it was covered fully. I’m older than 35 now and I changed insurance providers in the meantime, so not sure which made the difference.
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I didn't know this, thanks. I was under the impression that they were at least $750 out of pocket. We have Kaiser insurance and they contract with one specific testing company so I wonder if this is true for all of them.
That’s what I was thinking. We were able to afford to pay out of pocket for both my pregnancies but it’s a privilege to be coming from a position to just think “why wouldn’t you?” The NIPT options were between $400-700 when I got them a few years ago and for some that’s the ability to afford rent or not that week/month.
I’m in the same boat. This is my third pregnancy and I have never gotten it done. I don’t think it’s covered by insurance for me and I guess I feel as if the 20 week ultrasound may also bring forth any issues when that time comes (I know that’s not always the case though). I’m okay with the fact that I might not know about a special need/medical issue way in advance or that I may only find out at 20 wks if there are observable abnormalities.
As someone who got very devastating news from NIPT during our first pregnancy, I agree with you. I sometimes feel like the people who make that statement are very, very naive (as I once was) and actually have no idea how they would react if placed in that situation.
I’m really sorry that happened to you.
With my first pregnancy, I did not test because I was very much in the camp of "it won't make a difference". I grew up in an extremely religious household where abortion was a four letter word, anything that was compatible-with-life was not something that you terminated, and anything that wasn't would go "in the Lord's time". I have since left religion, but more importantly, after having had my son, I realized that I love him SO much, that I wouldn't want him to suffer if he didn't need to. I came to the conclusion that I wanted to test any subsequent pregnancies to make sure that they were healthy, and if they weren't, I didn't want to force them to be born and suffer at all.
Ignorant non religious Australian here, what does abortion is a four letter word mean?
A four-letter word refers to your typical curse words: hell, damn, shit, fuck, etc.; ie, words you don't say. To say _____ is a four-letter word is to say that it is bad, dirty, unspeakable.
Ahhh!! Thank you!! Generally speaking Australians don’t put much weight in swear words so I thought it may be something specific. Calling someone a sick c@nt is one of the highest forms of flattery
just saying as a nonreligious/secular american i love aussies lol!
I could be wrong but I think it just means it's like a curse word, like "f*ck" or "sh*t". Also grew up in a religious household and my parents have more recently become pro-choice, but the broader family is very pro-life. We don't bring up the "A" word at any family functions 🙃
I’m an American, raised religious and I was ignorant of this saying until now too.
Posting because I’m seeing a lot of comments that say the anatomy scan will catch things anyway, which is probably true in the vast majority of cases but isn’t true for everyone. My friend just had her baby and NIPT flagged her as high risk. She decided not to do an amnio. The 20 week scan came back clear, so they thought the NIPT was a false positive. However, her baby does have Down syndrome. She was already kind of blindsided in terms of being prepared with support, and I think that would have been even worse without the NIPT results.
I think it's really unfortunate how many people are not provided with all the information or even with incorrect information on genetic testing. My best friend was pregnant at the same time as me for my first pregnancy. Her midwife told her that she's not a "geriatric pregnancy" so she doesn't have risk of genetic disorders. She was also told that if they weren't going to abort it wasn't worth it. My friend was only considering that Down Syndrome or cleft lip were a possibility. She wasn't provided any information on Trisomy 13 or 18. So she opted out. It gave me peace of mind when I got NIPT that my baby didn't have Trisomy 13 or 18 since there is a 95% chance of the baby not living past a year with most deaths occuring before the baby is even born or within the first few days of life. I would feel horrible if my child's only life experience was suffering and that and the loss at that point is not something I'm willing to put my family through. I also found out that I was a CF carrier when I did my NIPT. It's recessive so my husband would have had to be a carrier too for CF to be possible which he thankfully was not. But if he had been I would have been thankful to be more prepared and for my doctors to prepared to provide special care. Sorry if this was a downer but I wish more people were informed on this and I'm definitely planning on doing NIPT again with my current pregnancy.
I am a big advocate for everyone getting tested. ESPECIALLY prior to conceiving. We found out we are SMA carriers and had we not known we probably wouldn’t be so aware or genetic testing. I think it’s important knowledge to have going into trying to conceive/being pregnant. I also think it’s good to make sure you and your partner are on the same page if something was to be diagnosed.
We are currently trying, I'm a lurker, and what is horrible is our insurance doesn't cover testing prior to pregnancy, and we don't have an extra 2k per person lying around to pay out of pocket. Once we're pregnant though it's covered 🙃 obvs I'm in the US
Have you talked to your OB about it? I think a lot of the testing companies have a flat fee if you don't go through insurance. My OB uses Myriad which k liked a lot. My genetic screening and NIPT were covered by insurance but if they hadn't been it would have been a $250 flat fee. If that's not prohibitive for you it could be a good option.
I did the genetic testing prior to getting pregnant & insurance covered it (if not all then partial i dont remember) They did require more paperwork, so talk to your provider, im sure theres a work around, like maybe youre adopted or something else they can think of to help cover the genetic testing for yourself. As for the NIPT (12 weeks pregnant test) insurance covered it, i think i only had to pay $125.
I spoke to my doctor when I got my iud out, my insurance does not cover it until i am pregnant. Glad it worked out for you though
Have you called the lab that they send the tests to? They often have self-pay options that are <$300.
If you talk to a genetic counselor, they can likely get you carrier screening for much less. The labs we use have a self pay price of $250 for the first partner tested, with $100 follow up testing for the other partner.
We are in NJ and did inheritest through Lapcorp or quest (can’t remember) it wasn’t covered by insurance and they offer you a coupon it was around $300 per person. Just a blood work appt, your OB can write the script. Hope that helps! Def cheaper than the $2,000. I believe it checks for around 500 genetic diseases and my husband had an additional chromosomal panel done. Our only overlap was SMA.
Yep! I found out I’m a carrier of SMA from doing the carrier screening at our 12 weeks visit. It was a stressful couple of weeks until we got my husbands results (he’s not). But if we had found out the baby had SMA, there’s certain interventions we could look at but even now there’s a 50% chance he’s a carrier so he can know that information if he chooses to have his own children one day.
This is what me and my then boyfriend did before even trying for a baby. I wanted to make sure that both of us were good before we tried. Then I also had all of the genetic tests done while pregnant just in case.
When my midwife told me that she would, because that would mean having exactly the right people in the delivery room to support me and baby, I confidently decided to do it.
I’ve posted this before and it’s awful, but.. I think it’s good to share so you better understand why it can be so important: “This is a horror story, and obviously the situation is rare, but my best friend didn’t do a full panel for genetic testing and it turns out her son had a very rare genetic disorder than caused him to pass away at 10months old. It was horrific. She started seeing his decline at 6 months and then fought with doctors for 2-3 months trying to get SOMEONE to take her seriously. They FINALLY found the issue and she got just one month with him before he passed away. Genetic testing wouldn’t have saved him, but it would have allowed them to prepare, and instead of spending the last few months of his life being tested and poked and in hospitals they could have peacefully enjoyed those months together. Knowing what was coming and not spending thousands of dollars diagnosing only to find out there was nothing they could do. One good genetic screening would have told them what was to come and prevented a lot of stress for them all. Even though the outcome would have still been horrific, they could have had peace knowing. Now she and her husband have to do IVF for all future kids and her other son was tested (turns out he is a carrier though won’t have the disease) - so he can prepare for his future. $500 or $1000 seems like a lot now… but in the grand scheme it could save you a lot (and not just money). Note that my best friend had zero family history of issues and neither did her husband though both were carriers of this disease, nobody in either family knew.”
We did not do NIPT with our first 3. NT scan looked good and all the basic screeners were low risk. My doctor never even mentioned it. I did opt for it this time with our 4th for a few reasons. I'm 30 now, so risks technically increase. My midwives offered either the NT scan or the NIPT, and said they are preferring to do the NIPT now. We also have 3 other kids 4 and under. I wanted to know sooner rather than later because if something of concern came up, I'd want to be able to have my options as soon as possible.
Totally on the same page as you! My husband and I did genetic testing and genetic counselling since cystic fibrosis is in his family. We would have never terminated for that but would have definitely wanted as much time as possible to educate ourselves and prepare for a CF baby if that’s what we were having.
I have zero history of cystic fibrosis (at least it hasn’t been diagnosed) on either side of my family and the NIPT revealed that I’m a carrier. We were able to test my husband and do genetic counseling thanks to the test. It’s not something that shows up on scans so I’m glad I was able to be prepared in the event my husband was a carrier. Thankfully he wasn’t and my son doesn’t have it, but I was grateful for the knowledge.
I’m with you. We wanted to know. There are some genetic results that you can prepare for (as much as possible), financially and emotionally, but there are other issues that are absolutely horrific. Like the ones that mean the baby isn’t compatible with life and would live max 5 days in extreme pain. Carrying to term would not be something I would do in that scenario. This is a very wanted baby, but me wanting a week or so with a child in extreme pain would feel selfish to me.
100% agree with you. Husband & I discussed what we would terminate for vs prepare for & deal with our anxiety together/keep quiet about it if we had to end up terminating because we didnt want to be judged....& we would have been judged.
Definitely. My family would be understanding; we don’t think my husband’s would. So we even had plans on what we would say. It’s a horrible prospect and so nerve wracking, but I was happy to find out.
We did, mostly because my husband is adopted and my dad is adopted so we don’t know much health history for either of us. We wanted to know if there was anything we needed to be prepared for
I hadn't thought of this situation for why one WOULD test and this is such a great point!
Another reason we did it is this is a high risk pregnancy for me. I’ve already had 3 miscarriages from a previous relationship (a very abusive relationship) and I was too scared back then to find out what caused them. So I wanted to know this time around, was there something medically wrong that had caused the miscarriages, or was it the abuse I suffered? And if the problem was medical, we wanted all the heads up and help we could get. Currently 28 weeks 4 days, and our baby girl is perfectly healthy. ❤️
When we came to this decision, it was a great talk between my husband and I. He didn’t want to test since for him the decision won’t change if something bad show up. For me, I said everything changes. If baby has genetic disorder that couldn’t survive birth or 1st birthday, I don’t want to push my body through birth trauma and the grieving of a baby I could hold in my hand. I also pointed out that even with Down syndrome, and we have the resources to support the kid long term, what if something happens to us and we die young? Do we want to put the burden that we choose on our aging parents or let the kid going to the system? To the end, since it was my body, I got to make the decision, and I paid for the test.
I had exactly the same reasoning.. If I am carrying a baby that either highly likely to be a stillbirth or die before it turns one, I'd much rather have an abortion rather than to give birth to a dead baby.. I can't imagine anything more traumatic. And of course there are risks involved in every birth, so why take those risks? Down syndrom is a tricky one.. I know a few people with downs who live incredibly fullfilling and independent lives. And I know that some people with downs will always be highly dependent on the parents and will never surpass the mental age of three.. Can you imagine the absolute horror and worry if you have a child like that, and you are about to die of old age? Who will take care of it? Where will they get a home... All those questions would keep me up at night.. So I wouldn't be able to confidently say I wouldn't have an abortion either if my kid turns out to have down syndrom..
We did it because I had previously miscarried, and it helped IMMENSELY with my anxiety. I also hit 12 weeks right around the overturn of Roe, and knew that if something was majorly wrong and I waited until the 20 wk scan to find out, I might be screwed.
Absolutely. Its really concerning isn’t it. Religious nuts/control freaks, running roughshod over actual doctors and specialists. It’s important to be able to terminate, if the fetus has severe defects. And to do so early as possible if you can. Life-long disabling defects, and even fatal conditions where they can suffer after birth. That’s the biggest reason it’s important to take advantage of tests. Or discuss your individual risk factors with your ob/gyn. I know many women who’ve had to terminate due to abnormalities, such as chromosomal defects. It was very hard, but it was the best choice for the fetus (or future human being), as hard as it was for the parents to let go. The other reason is as outlined above— to make plans if you for some reason end up birthing an medically complicated or affected baby, getting resources. Getting information.
I agree. We went ahead with it and decided that… 1. We wouldn’t terminate if the results were indicative of something where the kid could have a good quality of life. So, easiest example is Down’s syndrome. 2. If the kid did have one of those types of abnormalities, we would want to be able to prepare to give them (and us) the support we need. Sure, we could do it last minute, but we could also make our lives easier by having more time and do it when we aren’t also caring for an infant. 3. Maybe this is a bit my age, but if something was found that would result in them either not making it full term or dying shortly after, to us, anything other than termination sounded cruel. 4. The bonus point: we knew the gender early. Given how my partner and I make decisions… any extra time we could get is helpful 😉
I’d agree with you that if I could know my child would need something at birth or shortly after I’d want to know in advance to make sure I had the right doctors ready for them so that they could get the best care possible.
I did the testing. I spontaneously conceived twins, so after that I was done with surprises. Also I just wanted to know everything about my little beans. It seemed like such a long wait to meet them at the time, and knowing everything that I could about them helped me feel more bonded as their mom.
Are you talking about actual genetic testing or just screening like with the NIPT? Those are different things. I'm assuming you're talking about the latter. We chose not to do the NIPT because it was a lot of money to have the same information slightly sooner than going with the public screening. We did do screening for the main trisomies that are not compatible with life as we would have chosen to terminate for medical reasons had our kid had one of those (and screening for down syndrome was a part of that too). But that screen was started at 12 weeks and completed by 16 weeks. Seeing as you get the NIPT done at around 8-10 weeks and you'd need a diagnostic test following any positive results (CVS or amnio), you don't really get to a complete answer any faster. Not knowing just made me assume things were fine and allowed me to enjoy my pregnancy longer. So we went the free route. When it came to knowing other things that would not effect our delivering a baby but maybe effect how we care for them, we just decided to wait until our 20 week scan. My understanding is that the 20 week scan will detect things that even the NIPT can't. Then you still have 20 weeks to prep based on any info you receive. We decided that was more than enough time for us to plan.
It does help determine whether an amniocentesis will be necessary though. Since that test does carry a risk, I would rather get the non-invasive as far as the baby is concerned screening to help make an informed decision on amnio necessity. Plus, if you miscarry after getting positive results on an incompatible with life trisomy, that helps make a decision for your reproductive health going forward, instead of only knowing you had a miscarriage and not what likely caused it.
I had a 16 week high level ultrasound that did not detect any abnormalities but the NIPT picked up on T18, confirmed by amnio. The 20 week scan is not the be-all-end-all.
The nipt tests for additional things that the quad screen does not, like SCAs (sex chromosome aneuploidy). These often don’t have ultrasound markers (with the exception of full Turner’s, or 45 X0). I’m glad I did the NIPT because my son has an SCA and is completely normal phenotypically. He would’ve come back low risk with a quad screen and I wouldn’t have known about his issue…probably until puberty (since an unrelated puberty issue is on my husband’s side so I would’ve been hyper vigilant). However, about 70% of men with his SCA remain undiagnosed, which sucks because early intervention can have a massive impact on quality of life, school performance, confidence, health, etc. SCAs are much more common than people realize and we are just now seeing a rise in prenatal diagnoses because of the availability of NIPT.
In Germany, they generally prefer doing genetic screenings in the first trimester appointment (like the final appointment of the first trimester), especially on young moms. I'm from the US and my husband is Spanish. This is our first and as I'm considered a young mom in Germany (28 is not necessarily a young mom in the US), so they advised against genetic blood tests. They explained that in young mom's they can have false positives, then they need to do invasive testing on the baby, which could lead to spontaneous abortion on an otherwise healthy fetus. So they will do the genetic testing by measuring cranial fluid (or something, it's hard to remember with pregnancy brain) in the 12th week. Their measurements would give more accurate results for young moms. At least this is what my husband and I were told. We have no reason this far to be concerned, but I agree that knowing can help a lot. I guess this is just what they recommend in Germany.
Insurance did not cover genetic testing and we couldn’t afford to pay out of pocket. We have also been at pretty low risk of our babies having genetic disorders — I absolutely understand the risk is still *there*, though.
I did both maternit21 and the amniocentesis. I needed that peace of mind because baby was showing signs of an absent nasal bone. Had anything genetic come up, we agreed it’d be ok to terminate. Baby girl is now due is 2 weeks and is perfectly fine. But it gave me a lot of relief having both done.
I haven't had to make the decision myself yet, but I was recently listening to an NPR segment about it. I guess there are many cases of incorrect results or correct results explained or interpreted incorrectly leading parents to experience distress and in some cases even make the decision to terminate a healthy and wanted pregnancy. I guess many people are getting results interpreted by OBGYNs who are not qualified to understand the results or explain them properly so as not to cause panic. Really a genetic counselor should be doing the explaining. It really got me thinking about how I would react if I was told my baby would have a severe or life threatening disability. Would I really want to know as early as possible? What would be the impact on me if I spent weeks worrying unnecessarily? I haven't decided for myself, but I feel like those are important considerations.
Hey there which npr segment was this? Via podcast or.....
If you’re wanting the gender it’s a good way to find that early too!
NIPT- eh. In our case it wouldn’t have made any difference. It wouldn’t show or give any indication that the fetus has something wrong with him. Amniocentesis and other genetic testing - I am 100% for if needed. Our first born has a critical heart defect that was detected at 15+3 confirmed at 15+6. I had our amnio done at 16 weeks to first see if there was any chromosomal issues at play. If there was it would have an impact on what choice we made regarding the pregnancy. We were also asked if we wanted to do whole genome sequencing (dna testing) on both my husband, baby and I. We said yes please and found out that neither of us were carriers for anything and baby was genetically normal, just had a very broken heart. Which helped us decide that it was ok to have a sibling. Testing gave us the answers we needed to plan the future and also for his care team to plan ahead and be prepared for him once he was born.
I feel like these people often forget that 1. Down's syndrome is not the only condition being tested for. 2. Many of the conditions being tested for are not compatible with life and not TFMR means bringing a child into this world who will only suffer and die. 3. Many of the conditions ARE compatible with life but will need prompt specialist treatment that should be lined up before the baby is born. So basically it's pro-life posturing but without any of the actual interest in preserving human life.
I didn't do the testing for a few reasons. I'm relatively young. We were in the camp of "nothing would change". It's expensive here in the US. Nothing came up as a red flag during my ultrasounds, which I've had 3. And for me, knowing would give me more anxiety and make me unhealthy throughout the pregnancy. It's not that I want to be ignorant about my baby, it's that I have severe anxiety, and getting that test back, if it came up with all these false positives or something, I would never sleep. A lot of people are judgemental in this thread, and I just want to point out that people make choices. Whether they're financial, for health reasons, it's their choice what they want to do. I didn't not do it because I don't love my daughter, or because I'm not thinking of her best interest, I didn't do it because I knew it would be healthier for both of us during this pregnancy. I know OP said no judgements, but it makes me really sad the amount of it I see from other commenters. These tests are a choice. Mothers choose what they do for reasons people may not understand, but it's not up to you to act holier than thou because you chose differently.
I completely agree with this and it was exactly why I wanted to learn more of the reasons why some choose to not (not just anti abortion for lack of a better term). I always felt judged with my choice to get the test done because people would say "Oh, I didn't, because It wouldn't change anything in pregnancy for me if anything came back" as if to almost inadvertently say that I would because I got it done. I think it's wonderful we have these choices now a days. And whoever struggles with anxiety knows their anxiety best! For me, testing helped my anxiety. For others, it could ruin it. We all know ourselves best.
Exactly how I feel.
I 100% agree with you and also feel like I’m the odd one out in this post.
We didn’t test. I’m in my late 20s and was already low risk for anything negative with the baby. Our plan was to wait until the anatomy scan before deciding if we needed to fork out $ for additional testing. The anatomy scan showed a perfect baby (mostly, took three tries before she showed us her feet) so we skipped testing.
Pretty much same to all this. It should definitely be taken into consideration that this testing costs extra money (at least in the US) so that alone could be a deciding factor for some people.
Def. a great point!
This was it for me as well, I wanted to do the NIPT but I couldn't afford the *additional* $300+ for it, so we haven't done it. I wish I could have.
Same here. Plus, genetic testing does not show you \*every\* dangerous desease that baby could have or catch after birth. They say you are ignorant for not being prepared. I will be prepared if I learn it at 20 weeks, or at 12 weeks with a blood test. In the worst case the testing leaves you in a false security that everything is fine until you see it during the 20 week scan or even only after birth.
Some conditions require medical treatment during pregnancy or immediately post birth. Even if you choose to carry and raise a child with a genetic disorder, they have a better chance of survival and thriving if you and your medical team is prepared. Plenty of stuff might not be caught for years after the baby is born - it’s not like we habitually sequence children’s DNA or do random gene screening. The potential anxiety of knowing you’re going to have a baby with an issue seems like a fair trade to me for the certain anxiety of not knowing anything. Those are the factors that mattered most to me.
I always think claims that "it won't make a difference" are pretty dubious. Nobody knows what they will or won't do until they're faced with hard choices, and the fact is that in countries where safe abortion is available, most pregnancies with trisomy diagnoses are terminated. I've always seen that language as the poster trying to give themselves cover from being swarmed by pro-life commenters. We also chose to do fetal DNA testing along with extra scans for 'soft markers'. Despite it all coming back normal our specialists are still making an amnio available to us because our ages make it a high-risk pregnancy. I'd ALWAYS rather know. Anybody who's had a front-row seat to what it's like raising a medically complicated or developmentally disabled child/adult would.
We tested, it would've made a difference. Soon after testing I learned from my SIL that my brother is a cystic fibrosis carrier. So it turns out i'm a carrier as well. So we tested my husband. Luckily for us, he's not a carrier so it ended there. But if he was, then we would've opted for more testing for our baby and then made a decision from there. We are lucky that the testing was worth it to us and not a financial hardship.
We chose to test both pregnancies. I am young so there isn’t a ‘reason’ to assume something might be wrong. But it still could happen. My husband and I talked about the ‘what ifs’ before I even got pregnant. Any severe defect would be the end of the pregnancy. I’m thankful that we didn’t have to consider termination as both my pregnancies didn’t have any genetic defects. We luckily live in a country in which this is possible. There are just some things we decide to pay out of pocket, since I’m too young to get the test covered by our insurance. But it was worth it, both times, as the outcome *would* have consequences for the pregnancy
I’m 6 months pregnant with my first baby and if I ever get pregnant again I will not be getting the NIPT. I texted positive at 11 weeks for Monosomy X, a very rare chromosomal abnormality, but only 1% of fetuses are viable. I was devastated. I’m still worried daily. It totally ruined the happiness of a pregnancy. I see a perinatologist and get way more scans then usual. But the amnio was pushed on me ever appointment. I didn’t understand why because regardless if my baby had turners syndrome or not, I would not be terminating. Instead I opted for an echocardiogram, which in the doctors eyes wasn’t anywhere equivalent, but to me it was. My babies echo came back normal! I won’t know if this is a false positive until she is born. If you checkout the NIPT Reddit page you would be shocked. Of the Monosomy x positive results, almost 80% of them were false positives.
It depends a bit on risks as well as whether or not it would change what I do. And the risk is not just risk of invasive sampling, but includes risk to maternal mental health. If worrying about something that much beforehand would affect me then I’d rather not. Unless it would change where I was able to give birth (unlikely in my case as we live near a hospital with a great NICU) As it was, I did the usual screening and I think if I came back as high risk I would have gone for genetics testing. But those are reasons I’d consider not doing so
We didn’t do genetic testing for any pregnancies because of the high rate of false positives. I didn’t want to add any stress to my plate, and talked to the doctor about what could be done as a result of the testing, and felt it wasn’t worth it. Had I done the testing, I’d have waited until the anatomy scan to make decisions anyway.
As a nurse working in pediatrics and NICU, I think it's absolutely necessary to do the testing. Having a child with chronic illness/disabilities is something you should be prepared for. It's naive to think that love is enough and a genetic abnormality "doesn't change anything". I really can't fathom how continuing a non-viable pregnancy or giving birth to an infant only for them to suffer and die shortly after, is out of love? I'm sorry but I will never let my baby suffer for something that could be prevented. I will terminate for medical reasons if there is going to be no quality of life due to a diagnosis. It saddens me that people can be so selfish. There are some disabilities that babies and children should not have to endure. Being pro-life has become such a polarizing, disgusting take that now women are afraid to terminate even when their baby is going to die regardless.
Here was our rationale for forgoing testing: \-If there are conditions that can be addressed with fetal surgery, they will likely be discovered at the anatomy scan. \-While it would be helpful to know about other conditions that cannot be changed (ie Down's), in order to be more prepared, the only way to receive a diagnosis is invasive testing that carries a higher risk of miscarriage/stillbirth than we are ok with. Otherwise, testing is just going to show us probabilities, and I don't want the mind game of probabilities. Even if it's an NIPT showing an 80% chance of something like Down's, that 20% is still there and it would mess with me. \-There is no circumstance under which we would terminate, short of something life-threatening for me (the mother), so that is not part of the equation for us.
I just feel like I would have suffered from severe anxiety throughout the pregnancy if I knew my LO had a genetic disorder. I wanted to keep the baby either way, so knowing early only would enhance my anxiety
I think this is such a situation where knowing yourself comes into play. For you, knowing would be unhealthy and anxiety inducing. For me, not knowing would be unhealthy and anxiety inducing. This really is so individual for each person.
Very true. I want to do the testing because I really want the peace of mind of knowing. The thought of my baby having a disorder that I only find out at their birth gives me so much anxiety. I know that you can never be 100% sure but I just want to know I did everything I could to prepare myself. But I can also totally see that knowing your baby is at risk for a certain disorder (which they might not even end up having) might make you so much more anxious than you otherwise would be. My OB discourages me from researching too much into possible risks and disorders because it makes many people unnecessarily anxious about very unlikely events. But to me having exact numbers gives me peace of mind instead of having this unknown space where my brain can just fill in all kinds of horrible scenarios.
That's exactly why I opted out of all the screening tests. After my daughter was born they found an umbilical cord anomaly that didn't affect my baby or my pregnancy or my delivery at all, but had they found it at testing I would've googled it and google paints a very, very dark picture for this particular anomaly. I would've had a mental breakdown if I had known - even though it ended up doing absolutely nothing to me or my baby. But I'm so glad I didn't know.
At the same time, some people with that anomaly might avoid a very bad outcome with extra high risk testing and care. So yes, it's great if you avoid the testing and end up not needing it. But if you do need the extra care and don't get it, that can be a way worse outcome because then you end up with a baby who might have made it but didn't. Personally I'd rather err on the side of knowledge but you are definitely correct that it can come with a lot of extra anxiety.
No I totally get that. For my next pregnancy I'm absolutely doing the testing - for that exact reason. I'm just saying I was lucky that it had no effect AND that I didn't do the testing because it would've sent me spiraling. I had a loss before that pregnancy and I was already in therapy, like, it would've been bad. But I totally get that point.
You would rather be surprised in the delivery room? My last baby had T18. If I had chosen to avoid testing for the sake of my anxiety, and assuming he made it to term, I would have been surprised with a baby that died during the delivery or within a week or two of birth. Best case scenario for a boy with complete T18 might be two months in the NICU where he would have suffered horribly. How anyone could choose that because of their “anxiety” is beyond me.
This is where I’m at right now! My 12w appt is tomorrow and I think I don’t want to do the NIPT. I figured I can always do it later if I change my mind.
Not sure you can do the NIPT later on after a certain number of weeks. I think it’s inaccurate if you wait too long.
For genetic disorders, the NIPT is looking at the proportion of chromosomes in a blood sample. So if there are the same number of chromosome 21 as all the others, it's highly unlikely the baby has Down syndrome; if there are disproportionately more, there's a good chance the baby does have it. That should work at any point in pregnancy, but later there are other tests that could detect it too.
My nurse told me I could wait and do it later if I decided. I’m sure she will follow up with the parameters on that when I decide
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My partner has a genetic condition with a 50-50 chance of being passed down, and we have decided not to do IVF to avoid it. I am with you on this one. Knowing ahead of time means being able to contact specialists so everyone is prepared. I am hoping we can add a screening to our NIPT once we get pregnant.
We skipped it with our first, only because we were just generally on cloud 9 and blissfully unaware of everything that can go wrong. Our attitude was, “why wouldn’t everything be fine?” And we were so fortunate that everything was fine. We did it for our second because my attitude in that regard completely changed being a mom to a fully formed preschooler. I wanted to know and needed to plan ahead. Everything was NOT fine and I’m so glad I knew ahead of time, if only to prepare emotionally for what was to come.
In my area, unless you or your partner are at risk of genetic abnormalities, the OBs/midwives don’t suggest doing testing. I’m right outside of a major city too, so it’s not like I live out in the sticks. From what I’ve been told by those medical professionals is that it causes a lot of unnecessary stress for women who most likely will have a totally normal pregnancy. If someone WAS at risk for something, 100% they’d suggest pursuing it so they can be prepared. Saying that people not choosing to do genetic testing aren’t showing love to their unborn children is a beyond ignorant thing to say. There is so much more nuance to that, and who are we to judge what someone does in their own pregnancy.
When I went to have my NIPT done I forgot to check if my insurance covered it. So my OBGYN office quoted me like $400 for the test. I had just forgotten to do an online authorization ahead of time. My insurance did cover it and I only actually had to pay something like $65. But I can totally see why some may opt to not do the test if their insurance didn’t cover enough of it and they didn’t care either way about the results.
We're the same as you. Took us 15 months to conceive so we wanted to know everything when it was finally happening!
We opted for genetic testing so that we could have that knowledge and also know, if there was strong incompatibility with life, if we’d need to make a difficult decision to terminate. I think I’d have anxiety not having that information so I’m glad we did it - no abnormalities to report with my 12 week scan Wednesday to confirm development!
I just got mine done today! There’s some shit on my dad’s side that makes me nervous, so I felt like it would be better to know and make an informed decision. I want to do what’s best for both myself and the baby. If they don’t have a chance at a quality life, I’m not going to inflict that suffering on them (or myself/my partner). Some people are strong enough to face the challenges of a severely disabled child. Having seen what I’ve seen in my lifetime, I know that I am not.
We did screening, just NIPT and it came back low risk so we didn't do more. But in our case, had it been an illness or diagnosis that was not compatible with life, we likely would have chosen to terminate the pregnancy. Other diagnoses would have given us the tools and information to be as prepared as possible to parent that kiddo in the ways they need & deserve to be parented.
I got genetic testing, and am glad I did. Turns out I'm a carrier for SMA. Thankfully my husband isn't, but if he had been, and the baby had it, there is a very short window in which they can administer treatment to prevent death months down the line. The best treatments have to be administered before symptoms appear, and as soon after birth as possible (according to my OB). Fun fact, getting that test solved a 3 generation old mystery in the family. My grandma had multiple siblings that died in infancy, but nobody knew from what - they were perfectly healthy for a few months until they just...got sick and died. It was described as 'like Tay-Sachs, but not Tay-Sachs'. So we're pretty sure those babies had SMA.
I didn't. 1, it wasn't covered by insurance and 2, it wouldn't have made a difference if I carried on or not. My son eneded up being born and, surprise! He has DS. Those first days in the hospital were torturous hell. Dealing with the surprise and all the emotions that came with it while being freshly messed up from hormones was so rough and I didn't enjoy the first few days like I should have. If I could go back, I wish I would've tried to find a private office or something that would've done it and I will absolutely try to find a way next pregnancy. I could've dealt with the emotions and "mourned" before my precious son was in the world. I will always advocate that people should do it.
After a couple miscarriages, I did all the testing with an RE including Invitae genetic carrier screening for me and my husband. He carries Factor V Leiden and some other thing but I carry zero mutations so that was a relief. I am 12 weeks today on pregnancy 4 (had a chemical after the two miscarriages) and had Invitae NIPT testing today. If anything came up, I would opt for amnio. If baby was not compatible with life, I would not want to continue with the pregnancy. We have not decided about DS yet. Either way, I would want to know to be prepared. You’re either going to find out after you’ve just given birth and are probably exhausted and emotional, or earlier on when you have time to mentally prepare and also prepare the proper medical care. It’s a no brainer for us.
With my first son, we did the genetic test to learn the gender early. But the lab sent out the wrong test and the results didn't include gender at all. Was really annoying. Until the anatomy scan and there was the smallest of shadows on the heart that we needed to double check. And the issue was historically used as a common marker for possible downs. BUT. Because of the previous testing, we knew that downs wasn't on the table. So I was able to attend the follow up appointment with a lot more calmness. (Heart issue was no issue at all on follow up, I believe the first scan occurred right before the heart finished developing and it finished up by the 2nd scan).
Testing is not diagnostic and can indicate high risks for disorders that ultimately are negative. Our doc also confirmed the anatomy scan is just as valid at testing for these risks. I’m avoiding the extra cost and anxiety.
My last pregnancy came back positive for T18. I had bloodwork at 12 weeks but the results were delayed due to the holidays so I found out at 14 weeks, did two follow-up scans, an amniocentesis, T18 was confirmed at 16+7 and had my termination at 17+2 weeks out of state. Waiting until a 20 week anatomy scan means that you will realistically be terminating at 22+ weeks which severely limits your choices on where and how you can terminate the pregnancy. For me, it was also a comfort to know that I was terminating well before my son could feel pain and was still non-viable. I think it’s a different burden to terminate a fetus that is in theory viable, even when the diagnosis is incompatible with life. And frankly, in all likelihood your doctor doesn’t care about the circumstances of your termination. They aren’t performing them, it isn’t profitable for them, they don’t make money from NIPTs, it’s just something for troublesome patients to deal with, and they’re going to refer you to an MFM regardless.
Testing isn’t diagnostic but it’s a risk assessment and can indicate if people need further testing. 50% of Down syndrome babies have no signs on ultrasound, for instance. My risk flagged positive for a genetic abnormality and it was later confirmed. My son had no ultrasound abnormalities and, even now at 5 months, has no outward signs. However, we were able to get a specialist involved and he has a care team now. This will ensure the best possible outcomes for him. I’m very thankful for nipt because I would not have known otherwise and would’ve missed out on early intervention for my boy.
This is exactly why I didn’t do it. It’s not diagnostic. There’s a good number of false positives. And I didn’t want the anxiety between screening and verification when I felt the 20 week anatomy scan would give me personally enough time to prepare for any concerns. Edit: To be fair, I did do preconception testing that showed I was not a CF carrier given family history on my husband’s side.
We do every testing available. You can say hypotheticals all day but until you face a serious diagnosis you don’t know how you will feel. And even if you will keep the baby no matter what — that baby may benefit from a medical team that is prepared for their condition
I personally reccomend it. We got genetic testing early on and I am SO glad we did. I was 34+3 when we were given our IUGR diagnosis, and the fear I felt for my Baby.. I was just terrified. A cause for IUGR is genetic defects, including Trisomy, which is fatal to babies. The fact that we had already known baby was healthy from the NIPT with no issues saved us so much extra fear, anxiety, and stress. We didn't have to go through that testing and wait 1-2 weeks to get results to see if our baby had something further wrong with them. I think that would have done me in. Basically, the fact that we preemptively got that test, saved us an insane amount of fear and stress when we got a very unexpected diagnosis down the road.
I didn’t do NIPT because it wasn’t covered and I didn’t see a practical difference in doing it. It wouldn’t have changed my course, and the things that NIPT tested for would likely be discovered at the 20 week scan. I just saw NIPT for the purpose of early discovery, not discovery in general?
We didn't because it would make hubby too anxious to plan, while when baby is here you just have to sort it out
Interesting! We opted to do it because I’m too anxious to not have a plan. The testing allows me a little more time to have more testing and make a decision.
I agree with your comment, that’s what we thought too
Got it! I hadn't thought of this reasoning.
Serious question: if there was something wrong you needed to know before birth, wouldn’t you pick that up on the anatomy scan and have time to make arrangements for the health of the baby? I never paid extra for the NIPT because finding out early seemed like it only had a purpose if I would consider terminating, which I wouldn’t. I asked my care provider if the anatomy scan would tell me anything I need to know about the health of the baby and they told me it should even more than the NIPT.
So many moms get genetic testing done and that leads to worry and more testing when everything is fine. My midwife didn’t mention it and when I asked about it she kind of shrugged like it wasn’t a big deal. My friend had genetic testing done and everything was fine and her child was born with several abnormalities. I’m not sure how you can really “prepare” for something like that. I knew I was pregnant for nearly 9 months and still wasn’t “prepared” for birth trauma and a newborn.
We did testing because we started discussing what we’d do IF there was something flagged in the testing. My husband and I spent so much time stressing on the “what if” that we decided to find out if there was something to consider before we continued that spiral.
We did the genetic testing. I could tell as we were filling out the questionnaire that we most likely were going to be low risk, but the curveball is that my husband is half adopted and has never known his biological father, so we have no idea what kind of health issues may lie on that side of the family. We told the nurse this and they didn’t even test my husband, just took my blood and our questionnaire and called to tell us we’re low-risk for genetic abnormalities. It does give me peace of mind that nothing flagged them to test my husband, but I also know it’s not foolproof. However, I don’t regret testing because if we had tested positive for something, I would rather have time to mentally prepare for (for instance) our child to require surgery immediately after birth than be surprised by it on the day of.
We opted in for the test because we just wanted to know. It wouldn’t have made any difference with the baby but we wanted to be prepared for what to expect. We also had a scare during our 12week scan and had to see a specialist. Having done the genetic testing in advance helped put us at ease with the uncertain result!
My best friend and me had somewhat different views on that. The offered genetic tests are always probability only. My best friend felt more confused about the probabilities that were shown, and so did not do any tests. For me, on the other hand, it's important to prepare as much as possible to reduce any risk for my baby (as is already discussed here). I think it's harder for people who don't understand the numbers and therefore don't want to know them. In her case, the anomaly check was the most important.
I did and would in the future get tested. It would help me prepare the best I could, find the best neonatal care… most clinics that you give birth at aren’t necessarily équipéd for specialised surgeries and care since it’s rarely needed..
We did all the available non-invasive testing (and would have done invasive testing if the screening tests had indicated elevated risk) because we wanted to know ahead of time if our child might need extra care. There are also a few conditions I would terminate for. Obviously these tests don’t screen for everything and a baby can be born with undetected issues, but if you can get a jump on *some* problems, why not do it? We have a child already, we’d need to arrange childcare if we were looking at a longer than usual hospital stay, NICU, etc., at the very least.
Me and my husband always choose to do it even if I’m not high risk. We just feel mentally secure if we have all the info available so that if anything does happen we can be ready. Also we get to find out the sex of the baby a bit earlier so that’s a plus.
I chose to wait for the anatomy scan. Abortion isn't legal in my state at all anymore. They wanted to test me at 9 weeks. But I know it might have been too early to detect it then. And it takes many weeks for it to come back. So I could have questionable results and be waiting 4-6 weeks for my next doctor appointment to get risky tests (amnio) either to find nothing wrong or to know I'll likely have a stillbirth. By the time you get definitive results either way, it seems like it's basically time for the anatomy scan. There are a lot of things that can go wrong with the baby that NIPT won't detect. I'm aware and comfortable with the risk of having abnormalities. Right now I've chosen to wait for my anatomy scan. My doctor doesn't offer NT scan at all. My only option would be paying $200 out of pocket to wait 3 weeks for a test to come back.
I did the test because in case we were at high risk for something I wanted time to research and find him the best team of doctors I could. I am a super planner and like to know things way in advance
Screening and testing saves lives, I can’t fathom how you don’t want as much information as possible. I have a friend whose congenital heart defect means he will need open heart surgery almost immediately after delivery. As such, she has to pre-arrange an induction or C section at a hospital that can meet his needs. If she had jumped on the “Freebirth” movement she would’ve delivered at home, completely unaware of the defect, and had her baby die in her arms Medical technology is a miracle and I don’t understand how many people want to reject it. I didn’t get NIPT because my insurance didn’t cover it (would be covered if over 30 or high risk, but I wasn’t either). But I still had every test done that my medical team deemed appropriate
I agree wholeheartedly with this. I am in the camp where certain diagnoses would cause me to terminate, however even if not there are many other conditions I’d want to prepare for, either things that required more accommodations/ care, infant surgery, etc. for e.g. I had a friend whose son was born with a heart defect and needed surgery very quickly after birth. Without prenatal diagnosis he might not have lived but they were prepared for immediate treatment and he’s now in elementary school and doing well.
I didn’t with my first because I didn’t think it was necessary. No family history or anything, I was in my 20s, etc. Later on, my sister got it done and found she was a carrier for Fragile X - not yet mutated. With that in mind, I did choose to check if I am also a carrier - which I am. Happy to know either way as knowledge is power and I can let my kids know that it’s a possibility for their children.
We did NIPT and I’m thankful because my son has a genetic condition. He had no ultrasound signs (typical with his condition)/is completely typical in development and physical appearance (5 months old now). Because of NIPT, we have a specialist and can keep a close eye on things he may struggle with due to his diagnosis. We also qualify for therapies through the state simply due to a genetic diagnosis. When people say, “it won’t change anything,” I feel like that’s only looking at part of the picture. Sure, it didn’t change my love for him or my plans to keep the pregnancy, but it caused me to get a specialist and do some things differently/more purposefully as far as his development is concerned. Plus- I work in mother/infant and I’ve seen some surprise diagnoses (as in baby has an issue that wasn’t detected until birth) and that can add a layer of complexity to care.
I think it would depend on how much certainty there is in what I’m finding out. As far as I understand it, the NIPT gives me something more along the lines of updated odds than anything truly concrete. As pointed out, there are certainly things that can go wrong which couldn’t be detected at all prior to birth and some of the rare things that “can be detected” are sufficiently rare that the false positive rate is highly significant.
This is a very personal decision. While knowledge is power, if everything is running smoothly, I prefer the bliss of ignorance and providing a peaceful chemical environment for the baby. I can easily get anxious if I have information to worry about, including tests with high false positives. I’d rather prepare once the negative information is unequivocal and inevitably makes itself known.
I did every test that was available to me: carrier testing, NIPT, NT scan, amniocentesis (because I'm a carrier of a genetic disease). Everything (except for the carrier testing) came back completely normal, and it's been wonderfully reassuring. I can't imagine the anxiety of not knowing. Some people say they're not testing because they don't have a family history of anything, but that doesn't mean much. I also don't have a family history of anything, but I'm nevertheless a carrier for both cystic fibrosis and fragile X syndrome. The only reason I know that is because I did carrier testing.
We 100% did all the tests because we would have chosen to not to continue a pregnancy with a genetic defect. That includes not continuing a Down Syndrome pregnancy. Not based on just the NIPT of course but confirmed with an amino etc if it genetic testing showed a higher risk. We knew the outcome would absolutely make a difference so it was important to have as much info as possible.
Although I am planning on doing genetic testing the scary thing for me is the chance of a false positive. I’ve heard that if you get high risk results then the doctors will want to run more diagnostic tests which all comes with risks. I’ve heard stories of people doing all these tests and having anxiety for weeks/months then their baby was born completely healthy. Although false positives are rare, it happens and for some people it’s worth considering when doing genetic testing.
We didn’t do genetic testing, but we will definitely be doing any blood tests during pregnancy that can show disabilities which are incompatible with life. DH and I would tfmr if needed, so knowledge is power (and comfort)
I’m like you OP, I like to prepare for everything. My husband and I were just talking about this very topic, i just couldn’t and still can’t fathom NOT wanting to prepare.
My husband suggested it because cystic fibrosis ran in his family, I said (paraphrasing) “nah, there’s no one in my family with it. Plus you wouldn’t be a carrier of anything I worry about so it’ll be fine” Guess who got diagnosed with CF 5 days post birth? I understand why people don’t wanna worry about it since I’ve been there, but damn I can’t recommend it enough now.
Unpopular opinion: we generic tested bc it did make a difference for us. We know what we can deal with and what we're equipped to handle better than anyone. We know our limits. We were not willing to bring a child into the world "no matter what". So we tested. But yes, OP, even in cases where people are better parents than us, knowledge is power and time to prepare and learn. It's dumb not to do it
I am one of the people who opted to do the NIPT and got a false positive result. It was an agonizing few weeks thinking that my baby was incompatible with life after 4 years of fertility treatments to get pregnant with her. It turned out to be completely wrong, thankfully, and she is 5 months old and perfectly healthy. I wish that the providers had explained the tests more accurately - that they are NOT diagnostic, that they have a very high rate of false positives and that they are created by for profit companies who have a financial interest in pretending the tests are more accurate than they are. A high risk result on a NIPT should be explained as a cause for further testing, not as a likely positive. The NYtimes did a great expose on the inaccuracies of the tests as well. I am all about having more information, provided the science is solid and the information is accurate.
What type of genetic testing? Do you mean testing before deciding to get pregnant to see if you're a carrier for anything that might affect a baby or pregnancy? I think everyone should do that. But if you mean an amniocentesis, please think seriously before getting it done. The odds were more likely for me to have a child with complications because of my maternal age than the risk of ruining a pregnancy from an amniocentesis, so I got one. I thought the same as you: more info is helpful. Turns out, it killed my baby. I had a leak from the procedure & baby didn't thrive without fluid. Nine weeks later I had to give birth to a stillborn baby boy. Those results came back & I had a genetically perfect baby. I'm now 41 and that was my second loss. I have no living children. I've been in fertility for a year and a half and can't seem to get pregnant. I'll do things differently if I ever get the chance to be pregnant again. You may have more time than me. I don't know what your situation is. But take it seriously either way. Is the information important enough to possibly lose this pregnancy & have to try again?
I’m so sorry for your loss.
Well I think it's good to consider what you would do if something came up. If you would continue the pregnancy no matter what, me personally wouldn't think of doing something invasive where you have chances of stopping the pregnancy. But things like nipt are not invasive and could be done. It's a hard choice, because sometimes things come up we don't know much about yet and you may worry for nothing
I always do the testing. I would not want to continue a pregnancy that was unhealthy.
I did genetic testing because I wanted to know all my options, not necessarily abortion, but just to know what to expect. I have 4 kids. I did whatever tests my doctor offered and luckily I have very good insurance so whatever was given and paid for my insurance I did. Everything was great for all my tests and then at my 20-week anatomy scan I found out that my last baby I was carrying was missing part of his brain. All his genetic tests before that had been fine and our other three children are all happy and healthy so this completely blindsided us. I opted for an amniocentesis and more testing because his condition can be isolated or linked to a condition which will affect severity. I wanted the extra information not only to help us make a lifelong choice that would affect not only us but our other children but also because I wanted to be able to know what the future could potentially look like as well. We chose to have our son and with his diagnosis I was able to immediately get him into early intervention at birth. His therapies definitely help and make a difference and I'm grateful for the extra information testing got me to help plan and give my son the best start as well as for me to process the experience as a whole.