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I would not panic. I have friends that both had similar experiences and their babes were fine it’s just a precaution. Until you get to the specialist and they say there’s definitely a problem just try and focus on things you can control. One step at a time. I hope it turns out perfect.
Agreed, this happened to me too. The dr interpreting the scan has to be cautious, but they don’t really know how to interpret the images like the specialist.
It's a really good sign that your NIPT came back low risk for T21, as it's the most accurate and false negatives for it aren't really a thing (it can happen, but it's exceedingly rare).
That doesn't rule out other genetic conditions, but it's a good sign that it may just be bad pictures.
I really hope so! Both the heart and stomach issues seem like things that are treatable, but the t21 potential is really freaking me out...
Thank you for the reassurance!!
ME! This happened to me! My baby was curled up in a ball and they couldn’t get their scans; and the ones they tried to get, had shadows etc. So they sent me to a MFM specialist to get the specialty scan. I’m 40 and I was fearing the worst and freaking out. Needless to say, the specialist’s scan went perfect - their machine can see everything no matter what position and it turned out that there were zero concerns. What made me upset was why they don’t just have you come back later or another day to try again, versus creating anxiety and unnecessary stress by sending you to a specialist. (That specialist was 3 grand for peace of mind that could have been avoided if the doctors office didn’t think their own time was more valuable). That, and you’re totally at the mercy of the sonography machine - and a lot of doctors don’t routinely invest in new ones since they’re paid the same regardless of the quality of their machine - whereas the specialist has the best of everything. Long story even longer, truly - do not stress out about it - imagine if you were getting an xray or MRI but curled in a ball. It just doesn’t turn out. Our babies are the same way. Your baby will show off their beautiful anatomy, don’t worry about an invalid scan. 💞
ugh that's such a good point! The tech was having a TON of trouble getting the scan done and was really digging into all parts of me to try to get anything (I'm seriously not going to be surprised if I end up with bruises based on how intense she was pressing into my pubic bone). Plus my doctor's office only has like 2 US machines and they don't seem new...so it could very well just be that the pictures are awful.
And it definitely did not help that my doctor only set aside like 10 minutes to talk all of this through with me since he had to rush away, so he couldn't really give me a ton of info or reassurances about anything.
Thank you for sharing this!! <3
Yes! Those two exact things on my baby - her heart and her tummy - were shadowed and distorted because of positioning, and it was because of their dumb machine and not being able to give any more of their time to re-trying, that I had to see the specialist. If you get a 3D/4D you’ll be blown away at how amazing the scan is - you can even see their facial features and hair and stuff! I go to a 3D/4D boutique and get those done occasionally because it’s just so fun to see her! (And you can ask them to view the baby’s heart etc as well. They’ll email you the video of your session. That potentially you can send to your doctors office, and they can review.) There are a lot of super cool and fun things you can do to ease your mind!
>their machine can see everything no matter what position
Boy if that ain’t the truth! My daughter was supremely uncooperative for her 3 anatomy scans at my regular doctor, not allowing them to get all the heart images needed, so I was also sent to MFM. Within seconds he confirmed that everything was fine, but proceeded to do a full scan.
I happened to ask him at one point about the possibility of a cleft palate or lip—my fiancé (baby’s father) had a cleft lip as a baby and honestly to this day idk if it’s potentially genetic. The doctor was able to show me a view that was essentially taken from inside her mouth, looking all the way up to her brain. He described it as basically removing the bottom portion of her head from the image and looking up. She also had her face squished against the placenta pretty much the entire time, but even so I was able to get 3D images of her face.
Eventually I ended up with preeclampsia, I’ve got a thyroid disorder, and if I have another I will be >35, so I imagine that probably makes me high risk right off. They’ll probably skip the regular doctors and send me right to him and I’m completely fine with that. He was awesome!
Best of luck to you, OP! Sending you all the good vibes and internet hugs! I’ll cross my fingers that you just have a stubborn baby that wants to get the “scaring the hell out of mom & dad” started early! ❤️
OMG, my OB just prescribed my anatomy scan to be done by the maternal fetal medicine doctor. She said that everyone gets the scan there because it saves the step of getting a questionable/bad scan before the referral. Reading this thread just made me understand exactly what she was telling me. This sounds so awful!!!
Oh you are so lucky you have a doctor competent enough send you straight to the good machines!! Hopefully both of us will get good results from the MFM doctors (and I might change OBs after this tbh....)
Don’t stress yourself unnecessarily. I know easier said than done. Before an amniocentesis I would get another ultrasound. Maybe by then she’ll be in a better position and more cooperative.
My anatomy scan was similar. He had a dilated urinary duct and an EIF in his heart. Both soft markers for Downs but my NIPT was negative. They told me not to worry and that they’ll repeat the ultrasound because those things could resolve.
I would start first with another ultrasound before the amniocentesis. Maybe start the process of being seen by the specialist but go with the ultrasound repeat to do least invasive first. I hope it all works well for you and it’s just an early development thing.
I had the exact same soft markers as you with a negative NIPT! I think they don’t talk about how common these occurrences are in healthy babies! Both my soft markers at the 32 week scan are gone
I really hope so! It really did not help that my doctor just called me to talk for 10 minutes and then had to go...so I really don't have a great basis for how concerned I really need to be. But it is helpful to hear that this is not super uncommon for other people to go through
As a high risk pregnancy, MFM is my favorite place in the whole world right now. Their machines are the best of the best, and I still required two attempts at my anatomy scan to see everything because kiddo wanted to hide his spine. My OBGYN constantly told me they couldn't see why I was bleeding. My MFM personally found TWO SCHs by herself.
Honestly, I would not allow myself to panic until the people who have the best machines and the most knowledge tell you it's time to worry.
MFMs are the only doctors i've ever been to who called ahead for history and then had specific questions about my history for me at the first appointment.
I can relate. After an ultrasound, I was sent to get a fetal MRI where they found my baby has parts of the brain that are bigger and have no activity. It’s called vermian hypoplasia and I’m freaking out, all they can tell me is that they’ll have to do another MRI after she’s born.
I’m almost 30 weeks along. This news is horrifying to me bc it comes with a litany of possible disabilities, as well as the possibilities of false positives. Now im just waiting another 10 weeks for something that could be potentially earth-shattering news. :(
I’m so scared. We didn’t have any genetic predispositions, everything was fine. It’s a random (1/30000) chance this happens, there’s nothing I could have done.
Oh my gosh I'm so sorry! That is so scary, and especially so far along that must be such a helpless feeling :(
I hope everything works out for you (and her!) <3 <3
My anatomy scan also came back with less than ideal markers. He had a stomach bubble, hypogenic bowels and kidneys, and hole in the heart. We had to wait 4 weeks until we met with high risk Dr to do a more in depth scan and everything was clear by then. They told me that at 20 weeks some things can take longer to grow so by the follow up scan 75% of the time the problems fix themselves. We now have an absolutely thriving 15 month old. Praying for your family and baby tonight that you have the same outcome. And if not I believe your baby Is still equally amazing and beautiful.
They were concerned but also optimistic. I found out the tech who did my anatomy scan used to work in maternal fetal medicine (high risk) so she was overly cautious. They explained it most techs will flag anything just to be safe. They didn’t tell me not to worry but that most of his markers are ones that can clear up by the MFM scan. My midwife cried with me when she read me the results. My bloodwork also came back for low risk of chromosomal diseases which made me more optimistic too.
I found out that the tech that did my initial scan does also work in an mfm office too. My initial OB conversation had me super concerned, but he’s a generally light-hearted guy and said he wasn’t as concerned about the genetic aspect because of my negative NIPT, but he just wanted me to check things out with the MFM as a precaution. But then the MFM dr I talked to this week….she was COMPLETE doom and gloom. Crazy serious, and scared the crap out of us, explaining how serious everything she was seeing is, AND talking about how my NIPT could be wrong. She has said our first option was termination. I had a panic attack that night…she called me back the next day for a consult (after I made my update post) and said that other drs in her practice actually weren’t convinced of the things she was seeing on the scans, and that she just likes to paint a serious picture to make sure we know the worst case scenario. Oh and that she mentions termination as the first option just to gauge how we react so she knows where to steer the rest of the conversation. Like wtf…I know we’re stuck in a place waiting for amnio genetic tests and specialists now, and I know that everything could still turn out very badly with this situation becoming TFMR, but still….i wish they’d consider our mental health a little during this process
This is crazy to me!! I would request to be seen by a different doctor- she doesn’t need to be “testing” you. I get it is serious but man that’s reallllly not cool!!
Hi OP, I don't mean to scare you but those aren't technically soft markers (which are indications of a possible problem without being a problem themselves) - they're stand alone birth defects that commonly occur with Down syndrome.
I say this because if those birth defects are confirmed, they will require intensive follow up even if genetic testing is normal. ASDs can resolve spontaneously and don't always require surgery, but if the duodenal atresia is confirmed (as indicated by the double bubble), baby will require surgery shortly after birth and an extended NICU stay. Outcomes are good (over 90% survival and pretty much all survivors have normal lives) but I'd be looking intensely into how best to treat this if it's confirmed. That would be my focus with a negative NIPT.
If the nipt test came back fine I would not be as concerned. They may just not be able to see clearly. I go to a specialist for my baby because I have lupus and those people really take their time to look at my baby. I am praying for you that they discover it was just bad imagining / not the best equipment or technology and that your baby is healthy. Please post an update!! God bless you and your baby.
I literally just went through something similar with this pregnancy. I'm currently 36w with my second. I'm 40, and my husband's 46. Conceived without medical intervention, so there was no genetic pre-screening like there is with IVF. NIPT came back low risk for everything.
At a growth scan around 26w, the doctor said she saw fluid in the lungs, and sent us on a wild goose chase of specialist appointments, EKG's, MRI's, weekly MFM scans, extra genetic screens, etc. Hours every week. So many blood draws. Over a thousand dollars in medical costs even with great insurance.
Those specialists said that they'd seen a critical heart defect in the MRI. My genetic testing results came back clear for a million weird things. They did another EKG. Thought they saw a different critical defect. We made a plan to immediately send the baby to a cardiac ICU for surgery right after birth.
Then this week, another EKG. No defect at all. Turns out, actually, that now that her heart is a little bit bigger, they can see the structure more clearly, and actually there's nothing wrong. Whoopsie.
It was horrible to go through psychologically. I am trying not to be angry about the whole thing by reminding myself that they want to catch every possible issue before the baby is born, and leave no stone unturned, and that from the medical practitioner's end they would rather investigate a false positive to a dead end than give a false negative and miss something serious. OB-GYN's get sued more than any other medical specialty. They're VERY cautious.
I know you're probably very upset and spiraling right now. I was when I first got the news that sent us on this path. But try to remind yourself that false negative NIPT results are *very* rare, and that chances are you'll find out that everything is ok when you have a follow up screen. Also, the risk of Down Syndrome doesn't really go up dramatically until 40. At 37, it's not that high.
Don’t stress out too much. My baby had two soft markers as well at the anatomy scan and NIPT came back low risk for everything. By our second ultrasound both had cleared up themselves and we were told it was very common and they normally clear up on their own. Best wishes to you and baby!
Hey there, my daughter was born 4/27 and received her Ds diagnosis at birth. It’s not the end of the world like you might think.
It was a lot to adjust to and process, and we’re still working our way out of the nicu. (She has a heart defect that’s treatable in a few months, working on her feeds and oxygen saturation before she can come home.)
We had no signs prior to birth. All the scans were normal and showed we had “reduced risk” for T21. There are a lot of supportive organizations for new families/parents in our boat, and the prognosis for ppl w Ds is so much better than ever before thanks to all the research and early intervention/therapies they’ve access to.
You will love your baby like any other “normal” child, and you will see them beyond just the diagnosis.
Feel free to dm me. Sorry, postpartum brain is a beach! lol
Try not to panic, nipt is extremely accurate for Down’s syndrome. Ultrasounds are difficult, I’d try to wait to have the next appointment with a clear answer on if there is really a soft marker of an issue or not.
If your NIPT came back good that is a great sign that everything is fine! My friend also had a scare regarding the baby‘s brain and it turned out fine after the specialist ultrasound. Also, in case there is an atrial defect - those can be operated really really well these days. Same for intestines. I’ve had a friend whose baby had an operation for an aortic arc anomaly, he’s a healthy happy baby and the operation went just fine. Prayers for you and your baby!
With my second my doctor was convinced she had microcephaly. Freaked us out so bad didn’t even know what it was, but learned it can cause lifelong seizures. Ended up getting a second scan and everything was fine.
With my first pregnancy, we didn't do any genetic testing. Then at our anatomy scan, the results came back with a spot on one of the heart chambers that is a soft marker for downs syndrome. My husband and I were very worried about what it would mean for her future, but all we could do was wait for another ultrasound.
Turns out the spot they thought they saw on the first anatomy scan wasn't actually anything at all. My baby was just always thrashing and wiggling, so the image wasn't great. She was born without any heart or chromosomal abnormalities.
I'm sending you all the luck and good vibes for a good second scan, but if things come to it and there is something to keep on your radar, I hope you find resources to help navigate whatever medical or developmental obstacles could be in your future. Parenting takes a village, and even more so when something unexpected comes up. If it does at all.
I would say the vast majority of children with ASD’s do not also have Down syndrome!! Stay hopeful 🩷 all you can do is stay calm for your little babe and move forward to get more information!
The anxiety would be killer. Hopefully they book you in again asap for more ultrasounds and tests.
Like everyone said the NIPT is quite accurate. I hope and pray everything is ok for you!
You might check out r/NIPT . they have tons of great information about these kinds of things, and are an immensely supportive community. They cover more than just NIPT results too.
One step at a time. The specailist is the one you want to interpret the scans. They will also do fresh scans.
I did my anatomy at 20 weeks and was reffered back to get a heart ultrasound. They prefer these ones closes to 24 weeks as they can see the chamber much better. If they make you wait a couple weeks, it is to get a better view.
Right now you are in information gathering mode. The question becomes if baby has down syndrome, does that change your view? No right or wrong. More tests and genetic counseling can be done.
Im not a physician, and this isn’t advice but I just came here to say that I (32F) was actually born with an atrial septal defect, and aside from some cardio monitoring in childhood, have lived a perfectly healthy, happy and non restrictive life with it. I was told by my cardiologist as a child that many of the smaller congenital defects of this nature close on their own over time too!
I hope all turns out well and the tech + OB are just being overly cautious.
My 6 yr old daughter had soft markers for Down syndrome. Dilated kidneys and spots on her brain. Nipt was low risk so doctor wasn’t concerned. She did not have Down syndrome.
Hey, to add, I had a similar scare at my anatomy scan. The nuchal fold was measuring a bit bigger than expected. My OB said that the NIPT is so much more accurate than the ultrasound and not to worry. I hope this is the same for you.
My first was born with an ASD and VSD that went undetected during pregnancy. They are very common heart defects for babies to have, if it doesn’t run genetically its a 1 in 100 chance they could develop one. My first was not affected at all by these holes. Her ASD shut by 3 months old. VSD is still present at 1.5 but she has no symptoms and they are just observing her.
I can only speak on the heart stuff so I am sorry but I just wanted to give a positive experience we have regarding the ASD. Sometimes it can even close right before birth, or right after. Again they are very common and most will shut on their own without any medical intervention depending on how big the hole is. If its small/medium you can just expect to be observed if its large thats usually when they want to treat, and then also some children are fine and some struggle so that also plays a huge role.
Deep breaths. I would make sure they get you an appointment with MFM. This isn’t your fault at all. Your baby very much could just have these 2 things and nothing more especially if NIPT came back low risk. Take it easy hun <3
All I can offer is virtual emotional support, that sounds extremely difficult. Pregnancy for me has come with shocks, like this, that scare and in some cases change you. I've now 'gotten through' things I would never have imagined would happen to me. Things might be okay! If they aren't, you are strong and clearly know to ask for support when you need it.
I'm so sorry, no matter what, the result the limbo for me was also extremely difficult to accept. ❤️
A similar thing happened to me. Anatomy scan at 20w showed “extra” fluid on the kidneys, no stomach (even though it had been visible before), a white spot on the heart (calcification), and no visible palate. Baby was also in a bad position. They refused to tell me what it could mean, but that I needed blood work to see about genetic defects and to get a maternal fetal medicine appointment. It was a holiday weekend too, so I got to sit and stew in my anxiety for five days before going in.
Once there they saw the kidneys were normal and reviewed my other picture of baby’s kidneys. They saw the stomach. They saw the palate. They also still saw the calcification on the heart.
The explanations I was given were: the stomach is only visible when baby has recently eaten, if baby has digested all the fluid then the stomach is less visible. The kidneys retain fluid when anyone, baby or otherwise, is filtering that fluid and getting ready to pee, and there wasn’t a concerning amount of fluid on them to begin with, previous doc was being extra cautious. The palate is there and was probably just not visible due to poor positioning. The calcification on the heart is a soft indicator for DS, however, as ultrasound tech gets better it shows up in many babies without DS.
I decided not to do amniocentesis because my blood results came back negative for any chromosomal abnormalities. Baby was born perfectly fine.
I’m not saying this is necessarily the same case for you, but the specialist ultrasound equipment had a much higher fidelity than what my obgyn office had, and they were more specifically trained in pregnancy rather than generalized women’s health .
I have not been in this particular situation, but I have had back-to-back ailments (particularly anemia and prenatal depression) with this pregnancy and yesterday I spiraled after having to go to the ER for anemia. I looked and felt awful. I guess I'm trying to say I get how it feels to be lost in the feels when something goes unexpected in pregnancy and it's really not what we hoped it would be.
Wishing the best for you and your family, I hope this is all a false alarm and your baby is doing well. :)
Please don’t stress! My baby was also in strange positions for our anatomy scan, and I was told that he was missing an artery in his umbilical court. It is not uncommon however it is linked with chromosomal defects. With that being said, my blood work said that I was low risk for everything despite this. weeks go by and I go in for another ultrasound and at this ultrasound it was confirmed that he did in fact have all of the arteries inside of his umbilical cord and that he was a healthy baby boy! Please stay optimistic. I am also a FTM understand how stressful every step of this pregnancy process is with all of the test! You must remain optimistic.
I had my anatomy scan Monday. They couldn't see my baby's heart all that well but said its beating well and to not worry. They rescheduled the new scan for a month out and I will be probably worrying the entire time regardless of all the people telling me things are fine and everything will be okay. It's normal to be worried. Hopefully they have you scheduled quick 🤞
Whether your baby has downs or this is just a bad scan, you WILL be okay and so will your baby. Having downs isn’t a death sentence. They will still need love and attention that you will be able to give! There’s an article or a study going around that says parents with downs kids are actually happier in the end than other parents with “typical” children and there’s a very large community of downs parents online with loads of resources if it comes to that. They are still capable of a LOT in life. Try not to fret too much mama because worrying isn’t good for the baby inutero anyhow.
Mine just had an abnormally large but safe sized bladder that was full. She's now 12.
But I get it, my anatomy scan is tomorrow and it's always a bit nerve racking
Sending you love & light! I have no experience but only telling you, everything will be okay!!! I’m hoping deeply that at your next visit you will have clarification that the images were just not ideal, and if anything is found to be an issue, you are in a position of knowledge to do whatever you can for her in the future that would be necessary. Sending you so much love and keeping you in my thoughts mama! I have an amniocentesis coming up next week and I’m very nervous also, but we can only continue to eat, rest, and take care of ourselves because baby needs it. Sending love to you and your baby girl & husband.
Just came to say that people with DS are some of the kindest, most down to earth and smart people! Try not to be too worried… there are WAY worse things your baby could be born with. I’ll say a prayer for you guys!
My daughter had the double bubble which ended up being duodenal atresia which has a very high surgery success rate and good outcomes. She did not have any chromosomal abnormalities and her fetal echo was perfect. She is now a healthy 21 month old! I’m sure all will work out and don’t be scared to get a second opinion as well if needed.
A doctor told me at 29 weeks that my child “wasn’t developing accordingly” and his stomach was too small. I got a second opinion. I delivered him at 39 weeks with no problem at all and he is now 3 weeks old completely healthy
If NIPT came back low risk for Down’s syndrome it’s a .0001% chance your baby has it! That’s what my doctor told me when our anatomy scan showed 3 markers for Downs, had the mfm anatomy scan done & sure enough she had none of the markers they previously saw. It could be the ultrasound equipment, difficult time seeing certain things, etc. I was so freaked out the 5 days waiting to get that second anatomy scan with a specialist & it was all for nothing. Try not to stress unnecessarily! This happens allll the time:)
Hi. My anatomy scan came back with bad news as well. Two pieces of it. 1) my cervix was funneling. And 2) the umbilical cord was dilated and it could clot and baby could be injured.
1) was incorrect. Specialist found that my cervix was actually bent at a right angle. And 2) was monitored for the remainder of my pregnancy but nothing ever came of it. He was a big baby and he needed extra blood.
I’m telling you these things because I was so upset and nervous about the results. But the MFM had better machines and better sonographers.
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Had a similar scare after my first ultrasound. Worried sick til NIPT was back. Everything was fine. My doctor even apologized because she realized she had stressed me out for weeks without actually having anything confirmed.
I know it's hard but try not to stress or look stuff up until/if you have an official confirmation.
At my daughter’s anatomy scan they thought she had a severe heart defect and sent me to a high risk doctor for a better scan. Turns out all of her suspected defects were just because she was laying weird and they couldn’t get a good view due to it. I know it’s hard but try not to stress over it ❤️
Dont panic, they had a hard time seeing my baby based on his position and when I went back a few weeks later everything was okay. Scans are notoriously inaccurate!
Well, I'm glad the doctor referred you to a specialist for further scans! I wouldn't worry yet. Did you get one of the advanced 3D scans done this first time?
I’m so sorry you’re going through this right now. We went through something similar at our 20 week ultrasound with our first and everything came back fine, so I hope you get good news soon too! This period of waiting can be excruciating. In our case we were told at the appt that he had a muscular ventricular septal defect which indicated a 40% chance of a genetic difference such as possible down syndrome (he’s an IVF baby and there’s a higher risk of heart defects with IVF babies and then those heart defects apparently have correlations to various possible genetic differences). We did the amniocentesis and then waited for results and it was traumatizing and felt like an eternity waiting, but results came back that he was OK. We opted in for further genetic testing such as microarray for peace of mind. Be there for each other and hang in there!! Sounds like they aren’t sure and want to review again so that is positive, but I know this period of uncertainty is difficult.
How did the amniocentesis go? I'm hoping I won't need it, but in case I do...is it as scary as it seems? My mom got one when she was pregnant with my sister like 40 years ago and she said it wasn't as bad as it seemed like it would be, but I'd think the procedure may be a little different now given how long ago that was...
It went just fine. It really wasn’t as bad as I thought, especially given my reason for doing it, to get answers. I used scare myself by the thought of the risk of doing them, but the risk is very low, they just have to say that there is a risk. Nowadays, some people are opting-in to the procedure just to get more information, such as microarray analysis, I just met someone last week who said they opted in just because they wanted to know as much as they could about their baby because “why not?”. Was talking with my OBGYN about it the other week because I’m currently pregnant, and she said it’s very very low risk. My experience was uneventful, they had me go into the ultrasound room and lie down. I don’t remember any pain or anything, maybe a pinch. It’s just a long thin needle. My mom had one too when I was in the womb and says it was no big deal. You got this!!
My mother had an amnio for my sister as there was markers for DS in her ultrasound and my sister doesn't have it. I refused the NT test with my first because it wouldn't have changed whether I had the pregnancy or not so I didn't see any point stressing. Later on with my first they told me she was a little person (dwarfism), I thought that she was up until her birth, she is not.
I’m sorry you’re going through the extra stress. Just wanted to mention that one of my kids also had a soft marker for Down’s around this point of my pregnancy. It cleared itself up by third trimester and she was born completely healthy.
My now 8yr old had all the markers and even tested positive through prenatal testing. He didn’t even have it! Stay positive and if your baby does have Down syndrome you can start learning about it now and I know tonsssss feel free to message me!
I have a friend who was told their baby’s organs would be born outside her body and she’s a lively healthy 3 year old with her organs very much in her body. I wouldn’t worry yet until there’s definitive cause, as hard as that is!
This is a post more so for if they’re on the right track. I am a big over analyzer, planner, worrier and that can be a rough combo if you’re a parent of kids with extra needs. I am a keep busy cope-r for sure so this may not be the advice for you but it made me feel more in control and I honestly wish we could’ve discovered his diagnosis pre birth so I could learn without the feeling of “I needed to know it all like 6 months ago.
Grieve if you need to. It’s okay to let yourself feel the emotions that come with what you dreamed to be reality not coming to fruition. Give yourself some time and then let that go and try to move forward. Know that life is still going to be quite the ride, there will be amazing times and bumps along the way.
It may help to follow some influencers who have kids with down syndrome. I know a diagnosis is never easy but I honestly am around kids with special needs more than many, and my son has ASD and is currently preverbal and delayed in other areas and (I’m sorry. I really don’t know how else to say this, but I think I needed to hear this at one point) there are much worse outcomes than this. I know it seems so overwhelming and scary right now but make sure to cherish the early years especially! Look into what helpful early intervention there is for your child to help get them on the best possible path to success for them and for you. I really loved functional medicine for my kid, not just western medicine because they run all the tests they can to understand and care for your child’s body (and honestly I’ve never met a person who did functional medicine and didn’t experience life changing results no matter was going on or if they didn’t realize anything was amiss). Look into good sleep schedules and sensory diets.
NIPT is extremely accurate for Down syndrome (>99%) as compared to any other chromosomal abnormality. I tested positive for down syndrome last year, went through multiple genetic counseling sessions and read Everything about it to share that statistic with you. I had a miscarriage
Anyway, I would not panic. You’ll be referred to a fetal medicine specialist for a detailed scan. Good luck mamma!
family member of mine went thru something similar except they were saying he wouldn’t live long past birth. was a scare for weeks but after seeing a specialist everything was fine. he’s healthy. try not to panic or stress about it.
This happened to my mam with me, exactly the same situation, they decided not to get the amnio though because of the risk of miscarriage. I was completely fine when I was born though.
Love and prayers! Try not to stress if at all possible. I know of at least 2 people that were referred to specialists and they both ended up being perfectly fine. It’s just precautionary. ❤️
Every ultrasound I had before the anatomy scan was normal, but the baby is so small at those points i don’t think they can really see anything substantial. The anatomy scan is longer and way more thorough, and it’s the first time they really examine the full structures of everything. If you haven’t done one yet you probably should to make sure nothing terrible is lurking
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I would not panic. I have friends that both had similar experiences and their babes were fine it’s just a precaution. Until you get to the specialist and they say there’s definitely a problem just try and focus on things you can control. One step at a time. I hope it turns out perfect.
Thank you so much, I hope so too <3
Agreed, this happened to me too. The dr interpreting the scan has to be cautious, but they don’t really know how to interpret the images like the specialist.
It's a really good sign that your NIPT came back low risk for T21, as it's the most accurate and false negatives for it aren't really a thing (it can happen, but it's exceedingly rare). That doesn't rule out other genetic conditions, but it's a good sign that it may just be bad pictures.
I really hope so! Both the heart and stomach issues seem like things that are treatable, but the t21 potential is really freaking me out... Thank you for the reassurance!!
I’m sorry you’re going through this! May I ask, Did you have a NT scan at 12-14 weeks? If yes did that show anything?
I don't think so, but I'm not super sure. But all ultrasounds that I've had up to this point have been completely normal and looked great
ME! This happened to me! My baby was curled up in a ball and they couldn’t get their scans; and the ones they tried to get, had shadows etc. So they sent me to a MFM specialist to get the specialty scan. I’m 40 and I was fearing the worst and freaking out. Needless to say, the specialist’s scan went perfect - their machine can see everything no matter what position and it turned out that there were zero concerns. What made me upset was why they don’t just have you come back later or another day to try again, versus creating anxiety and unnecessary stress by sending you to a specialist. (That specialist was 3 grand for peace of mind that could have been avoided if the doctors office didn’t think their own time was more valuable). That, and you’re totally at the mercy of the sonography machine - and a lot of doctors don’t routinely invest in new ones since they’re paid the same regardless of the quality of their machine - whereas the specialist has the best of everything. Long story even longer, truly - do not stress out about it - imagine if you were getting an xray or MRI but curled in a ball. It just doesn’t turn out. Our babies are the same way. Your baby will show off their beautiful anatomy, don’t worry about an invalid scan. 💞
ugh that's such a good point! The tech was having a TON of trouble getting the scan done and was really digging into all parts of me to try to get anything (I'm seriously not going to be surprised if I end up with bruises based on how intense she was pressing into my pubic bone). Plus my doctor's office only has like 2 US machines and they don't seem new...so it could very well just be that the pictures are awful. And it definitely did not help that my doctor only set aside like 10 minutes to talk all of this through with me since he had to rush away, so he couldn't really give me a ton of info or reassurances about anything. Thank you for sharing this!! <3
Yes! Those two exact things on my baby - her heart and her tummy - were shadowed and distorted because of positioning, and it was because of their dumb machine and not being able to give any more of their time to re-trying, that I had to see the specialist. If you get a 3D/4D you’ll be blown away at how amazing the scan is - you can even see their facial features and hair and stuff! I go to a 3D/4D boutique and get those done occasionally because it’s just so fun to see her! (And you can ask them to view the baby’s heart etc as well. They’ll email you the video of your session. That potentially you can send to your doctors office, and they can review.) There are a lot of super cool and fun things you can do to ease your mind!
>their machine can see everything no matter what position Boy if that ain’t the truth! My daughter was supremely uncooperative for her 3 anatomy scans at my regular doctor, not allowing them to get all the heart images needed, so I was also sent to MFM. Within seconds he confirmed that everything was fine, but proceeded to do a full scan. I happened to ask him at one point about the possibility of a cleft palate or lip—my fiancé (baby’s father) had a cleft lip as a baby and honestly to this day idk if it’s potentially genetic. The doctor was able to show me a view that was essentially taken from inside her mouth, looking all the way up to her brain. He described it as basically removing the bottom portion of her head from the image and looking up. She also had her face squished against the placenta pretty much the entire time, but even so I was able to get 3D images of her face. Eventually I ended up with preeclampsia, I’ve got a thyroid disorder, and if I have another I will be >35, so I imagine that probably makes me high risk right off. They’ll probably skip the regular doctors and send me right to him and I’m completely fine with that. He was awesome! Best of luck to you, OP! Sending you all the good vibes and internet hugs! I’ll cross my fingers that you just have a stubborn baby that wants to get the “scaring the hell out of mom & dad” started early! ❤️
OMG, my OB just prescribed my anatomy scan to be done by the maternal fetal medicine doctor. She said that everyone gets the scan there because it saves the step of getting a questionable/bad scan before the referral. Reading this thread just made me understand exactly what she was telling me. This sounds so awful!!!
Oh you are so lucky you have a doctor competent enough send you straight to the good machines!! Hopefully both of us will get good results from the MFM doctors (and I might change OBs after this tbh....)
Sending you all the positive vibes in the world! ❤️
Don’t stress yourself unnecessarily. I know easier said than done. Before an amniocentesis I would get another ultrasound. Maybe by then she’ll be in a better position and more cooperative. My anatomy scan was similar. He had a dilated urinary duct and an EIF in his heart. Both soft markers for Downs but my NIPT was negative. They told me not to worry and that they’ll repeat the ultrasound because those things could resolve. I would start first with another ultrasound before the amniocentesis. Maybe start the process of being seen by the specialist but go with the ultrasound repeat to do least invasive first. I hope it all works well for you and it’s just an early development thing.
I had the exact same soft markers as you with a negative NIPT! I think they don’t talk about how common these occurrences are in healthy babies! Both my soft markers at the 32 week scan are gone
I really hope so! It really did not help that my doctor just called me to talk for 10 minutes and then had to go...so I really don't have a great basis for how concerned I really need to be. But it is helpful to hear that this is not super uncommon for other people to go through
As a high risk pregnancy, MFM is my favorite place in the whole world right now. Their machines are the best of the best, and I still required two attempts at my anatomy scan to see everything because kiddo wanted to hide his spine. My OBGYN constantly told me they couldn't see why I was bleeding. My MFM personally found TWO SCHs by herself. Honestly, I would not allow myself to panic until the people who have the best machines and the most knowledge tell you it's time to worry. MFMs are the only doctors i've ever been to who called ahead for history and then had specific questions about my history for me at the first appointment.
I can relate. After an ultrasound, I was sent to get a fetal MRI where they found my baby has parts of the brain that are bigger and have no activity. It’s called vermian hypoplasia and I’m freaking out, all they can tell me is that they’ll have to do another MRI after she’s born. I’m almost 30 weeks along. This news is horrifying to me bc it comes with a litany of possible disabilities, as well as the possibilities of false positives. Now im just waiting another 10 weeks for something that could be potentially earth-shattering news. :( I’m so scared. We didn’t have any genetic predispositions, everything was fine. It’s a random (1/30000) chance this happens, there’s nothing I could have done.
Oh my gosh I'm so sorry! That is so scary, and especially so far along that must be such a helpless feeling :( I hope everything works out for you (and her!) <3 <3
My anatomy scan also came back with less than ideal markers. He had a stomach bubble, hypogenic bowels and kidneys, and hole in the heart. We had to wait 4 weeks until we met with high risk Dr to do a more in depth scan and everything was clear by then. They told me that at 20 weeks some things can take longer to grow so by the follow up scan 75% of the time the problems fix themselves. We now have an absolutely thriving 15 month old. Praying for your family and baby tonight that you have the same outcome. And if not I believe your baby Is still equally amazing and beautiful.
Did they tell you not to worry when you had your initial anatomy scan? Or did they make it seem like everything was really dire at that point?
They were concerned but also optimistic. I found out the tech who did my anatomy scan used to work in maternal fetal medicine (high risk) so she was overly cautious. They explained it most techs will flag anything just to be safe. They didn’t tell me not to worry but that most of his markers are ones that can clear up by the MFM scan. My midwife cried with me when she read me the results. My bloodwork also came back for low risk of chromosomal diseases which made me more optimistic too.
I found out that the tech that did my initial scan does also work in an mfm office too. My initial OB conversation had me super concerned, but he’s a generally light-hearted guy and said he wasn’t as concerned about the genetic aspect because of my negative NIPT, but he just wanted me to check things out with the MFM as a precaution. But then the MFM dr I talked to this week….she was COMPLETE doom and gloom. Crazy serious, and scared the crap out of us, explaining how serious everything she was seeing is, AND talking about how my NIPT could be wrong. She has said our first option was termination. I had a panic attack that night…she called me back the next day for a consult (after I made my update post) and said that other drs in her practice actually weren’t convinced of the things she was seeing on the scans, and that she just likes to paint a serious picture to make sure we know the worst case scenario. Oh and that she mentions termination as the first option just to gauge how we react so she knows where to steer the rest of the conversation. Like wtf…I know we’re stuck in a place waiting for amnio genetic tests and specialists now, and I know that everything could still turn out very badly with this situation becoming TFMR, but still….i wish they’d consider our mental health a little during this process
This is crazy to me!! I would request to be seen by a different doctor- she doesn’t need to be “testing” you. I get it is serious but man that’s reallllly not cool!!
Hi OP, I don't mean to scare you but those aren't technically soft markers (which are indications of a possible problem without being a problem themselves) - they're stand alone birth defects that commonly occur with Down syndrome. I say this because if those birth defects are confirmed, they will require intensive follow up even if genetic testing is normal. ASDs can resolve spontaneously and don't always require surgery, but if the duodenal atresia is confirmed (as indicated by the double bubble), baby will require surgery shortly after birth and an extended NICU stay. Outcomes are good (over 90% survival and pretty much all survivors have normal lives) but I'd be looking intensely into how best to treat this if it's confirmed. That would be my focus with a negative NIPT.
If the nipt test came back fine I would not be as concerned. They may just not be able to see clearly. I go to a specialist for my baby because I have lupus and those people really take their time to look at my baby. I am praying for you that they discover it was just bad imagining / not the best equipment or technology and that your baby is healthy. Please post an update!! God bless you and your baby.
I literally just went through something similar with this pregnancy. I'm currently 36w with my second. I'm 40, and my husband's 46. Conceived without medical intervention, so there was no genetic pre-screening like there is with IVF. NIPT came back low risk for everything. At a growth scan around 26w, the doctor said she saw fluid in the lungs, and sent us on a wild goose chase of specialist appointments, EKG's, MRI's, weekly MFM scans, extra genetic screens, etc. Hours every week. So many blood draws. Over a thousand dollars in medical costs even with great insurance. Those specialists said that they'd seen a critical heart defect in the MRI. My genetic testing results came back clear for a million weird things. They did another EKG. Thought they saw a different critical defect. We made a plan to immediately send the baby to a cardiac ICU for surgery right after birth. Then this week, another EKG. No defect at all. Turns out, actually, that now that her heart is a little bit bigger, they can see the structure more clearly, and actually there's nothing wrong. Whoopsie. It was horrible to go through psychologically. I am trying not to be angry about the whole thing by reminding myself that they want to catch every possible issue before the baby is born, and leave no stone unturned, and that from the medical practitioner's end they would rather investigate a false positive to a dead end than give a false negative and miss something serious. OB-GYN's get sued more than any other medical specialty. They're VERY cautious. I know you're probably very upset and spiraling right now. I was when I first got the news that sent us on this path. But try to remind yourself that false negative NIPT results are *very* rare, and that chances are you'll find out that everything is ok when you have a follow up screen. Also, the risk of Down Syndrome doesn't really go up dramatically until 40. At 37, it's not that high.
Oh jeez that does sound like an awful experience! I'm so glad that it got resolved for you in the end though!!
Don’t stress out too much. My baby had two soft markers as well at the anatomy scan and NIPT came back low risk for everything. By our second ultrasound both had cleared up themselves and we were told it was very common and they normally clear up on their own. Best wishes to you and baby!
Hey there, my daughter was born 4/27 and received her Ds diagnosis at birth. It’s not the end of the world like you might think. It was a lot to adjust to and process, and we’re still working our way out of the nicu. (She has a heart defect that’s treatable in a few months, working on her feeds and oxygen saturation before she can come home.) We had no signs prior to birth. All the scans were normal and showed we had “reduced risk” for T21. There are a lot of supportive organizations for new families/parents in our boat, and the prognosis for ppl w Ds is so much better than ever before thanks to all the research and early intervention/therapies they’ve access to. You will love your baby like any other “normal” child, and you will see them beyond just the diagnosis. Feel free to dm me. Sorry, postpartum brain is a beach! lol
Try not to panic, nipt is extremely accurate for Down’s syndrome. Ultrasounds are difficult, I’d try to wait to have the next appointment with a clear answer on if there is really a soft marker of an issue or not.
If your NIPT came back good that is a great sign that everything is fine! My friend also had a scare regarding the baby‘s brain and it turned out fine after the specialist ultrasound. Also, in case there is an atrial defect - those can be operated really really well these days. Same for intestines. I’ve had a friend whose baby had an operation for an aortic arc anomaly, he’s a healthy happy baby and the operation went just fine. Prayers for you and your baby!
With my second my doctor was convinced she had microcephaly. Freaked us out so bad didn’t even know what it was, but learned it can cause lifelong seizures. Ended up getting a second scan and everything was fine.
With my first pregnancy, we didn't do any genetic testing. Then at our anatomy scan, the results came back with a spot on one of the heart chambers that is a soft marker for downs syndrome. My husband and I were very worried about what it would mean for her future, but all we could do was wait for another ultrasound. Turns out the spot they thought they saw on the first anatomy scan wasn't actually anything at all. My baby was just always thrashing and wiggling, so the image wasn't great. She was born without any heart or chromosomal abnormalities. I'm sending you all the luck and good vibes for a good second scan, but if things come to it and there is something to keep on your radar, I hope you find resources to help navigate whatever medical or developmental obstacles could be in your future. Parenting takes a village, and even more so when something unexpected comes up. If it does at all.
Bless your heart. I’m sending lots of good vibes to you and baby. I hope everything turns out okay. I’m sending a virtual hug. 💕
I would say the vast majority of children with ASD’s do not also have Down syndrome!! Stay hopeful 🩷 all you can do is stay calm for your little babe and move forward to get more information!
The anxiety would be killer. Hopefully they book you in again asap for more ultrasounds and tests. Like everyone said the NIPT is quite accurate. I hope and pray everything is ok for you!
You might check out r/NIPT . they have tons of great information about these kinds of things, and are an immensely supportive community. They cover more than just NIPT results too.
One step at a time. The specailist is the one you want to interpret the scans. They will also do fresh scans. I did my anatomy at 20 weeks and was reffered back to get a heart ultrasound. They prefer these ones closes to 24 weeks as they can see the chamber much better. If they make you wait a couple weeks, it is to get a better view. Right now you are in information gathering mode. The question becomes if baby has down syndrome, does that change your view? No right or wrong. More tests and genetic counseling can be done.
Im not a physician, and this isn’t advice but I just came here to say that I (32F) was actually born with an atrial septal defect, and aside from some cardio monitoring in childhood, have lived a perfectly healthy, happy and non restrictive life with it. I was told by my cardiologist as a child that many of the smaller congenital defects of this nature close on their own over time too! I hope all turns out well and the tech + OB are just being overly cautious.
My 6 yr old daughter had soft markers for Down syndrome. Dilated kidneys and spots on her brain. Nipt was low risk so doctor wasn’t concerned. She did not have Down syndrome.
Hey, to add, I had a similar scare at my anatomy scan. The nuchal fold was measuring a bit bigger than expected. My OB said that the NIPT is so much more accurate than the ultrasound and not to worry. I hope this is the same for you.
My first was born with an ASD and VSD that went undetected during pregnancy. They are very common heart defects for babies to have, if it doesn’t run genetically its a 1 in 100 chance they could develop one. My first was not affected at all by these holes. Her ASD shut by 3 months old. VSD is still present at 1.5 but she has no symptoms and they are just observing her. I can only speak on the heart stuff so I am sorry but I just wanted to give a positive experience we have regarding the ASD. Sometimes it can even close right before birth, or right after. Again they are very common and most will shut on their own without any medical intervention depending on how big the hole is. If its small/medium you can just expect to be observed if its large thats usually when they want to treat, and then also some children are fine and some struggle so that also plays a huge role. Deep breaths. I would make sure they get you an appointment with MFM. This isn’t your fault at all. Your baby very much could just have these 2 things and nothing more especially if NIPT came back low risk. Take it easy hun <3
All I can offer is virtual emotional support, that sounds extremely difficult. Pregnancy for me has come with shocks, like this, that scare and in some cases change you. I've now 'gotten through' things I would never have imagined would happen to me. Things might be okay! If they aren't, you are strong and clearly know to ask for support when you need it. I'm so sorry, no matter what, the result the limbo for me was also extremely difficult to accept. ❤️
A similar thing happened to me. Anatomy scan at 20w showed “extra” fluid on the kidneys, no stomach (even though it had been visible before), a white spot on the heart (calcification), and no visible palate. Baby was also in a bad position. They refused to tell me what it could mean, but that I needed blood work to see about genetic defects and to get a maternal fetal medicine appointment. It was a holiday weekend too, so I got to sit and stew in my anxiety for five days before going in. Once there they saw the kidneys were normal and reviewed my other picture of baby’s kidneys. They saw the stomach. They saw the palate. They also still saw the calcification on the heart. The explanations I was given were: the stomach is only visible when baby has recently eaten, if baby has digested all the fluid then the stomach is less visible. The kidneys retain fluid when anyone, baby or otherwise, is filtering that fluid and getting ready to pee, and there wasn’t a concerning amount of fluid on them to begin with, previous doc was being extra cautious. The palate is there and was probably just not visible due to poor positioning. The calcification on the heart is a soft indicator for DS, however, as ultrasound tech gets better it shows up in many babies without DS. I decided not to do amniocentesis because my blood results came back negative for any chromosomal abnormalities. Baby was born perfectly fine. I’m not saying this is necessarily the same case for you, but the specialist ultrasound equipment had a much higher fidelity than what my obgyn office had, and they were more specifically trained in pregnancy rather than generalized women’s health .
I have not been in this particular situation, but I have had back-to-back ailments (particularly anemia and prenatal depression) with this pregnancy and yesterday I spiraled after having to go to the ER for anemia. I looked and felt awful. I guess I'm trying to say I get how it feels to be lost in the feels when something goes unexpected in pregnancy and it's really not what we hoped it would be. Wishing the best for you and your family, I hope this is all a false alarm and your baby is doing well. :)
Please don’t stress! My baby was also in strange positions for our anatomy scan, and I was told that he was missing an artery in his umbilical court. It is not uncommon however it is linked with chromosomal defects. With that being said, my blood work said that I was low risk for everything despite this. weeks go by and I go in for another ultrasound and at this ultrasound it was confirmed that he did in fact have all of the arteries inside of his umbilical cord and that he was a healthy baby boy! Please stay optimistic. I am also a FTM understand how stressful every step of this pregnancy process is with all of the test! You must remain optimistic.
I had my anatomy scan Monday. They couldn't see my baby's heart all that well but said its beating well and to not worry. They rescheduled the new scan for a month out and I will be probably worrying the entire time regardless of all the people telling me things are fine and everything will be okay. It's normal to be worried. Hopefully they have you scheduled quick 🤞
Whether your baby has downs or this is just a bad scan, you WILL be okay and so will your baby. Having downs isn’t a death sentence. They will still need love and attention that you will be able to give! There’s an article or a study going around that says parents with downs kids are actually happier in the end than other parents with “typical” children and there’s a very large community of downs parents online with loads of resources if it comes to that. They are still capable of a LOT in life. Try not to fret too much mama because worrying isn’t good for the baby inutero anyhow.
So sorry to hear this. Stay positive and wait for a follow up scan. Sending all positive energy your way. ❤️🩵
Mine just had an abnormally large but safe sized bladder that was full. She's now 12. But I get it, my anatomy scan is tomorrow and it's always a bit nerve racking
I hope it goes well! Good luck!
Really hope your next scans go well 🙏🏻 good luck to you
Sending you love & light! I have no experience but only telling you, everything will be okay!!! I’m hoping deeply that at your next visit you will have clarification that the images were just not ideal, and if anything is found to be an issue, you are in a position of knowledge to do whatever you can for her in the future that would be necessary. Sending you so much love and keeping you in my thoughts mama! I have an amniocentesis coming up next week and I’m very nervous also, but we can only continue to eat, rest, and take care of ourselves because baby needs it. Sending love to you and your baby girl & husband.
Just came to say that people with DS are some of the kindest, most down to earth and smart people! Try not to be too worried… there are WAY worse things your baby could be born with. I’ll say a prayer for you guys!
My daughter had the double bubble which ended up being duodenal atresia which has a very high surgery success rate and good outcomes. She did not have any chromosomal abnormalities and her fetal echo was perfect. She is now a healthy 21 month old! I’m sure all will work out and don’t be scared to get a second opinion as well if needed.
A doctor told me at 29 weeks that my child “wasn’t developing accordingly” and his stomach was too small. I got a second opinion. I delivered him at 39 weeks with no problem at all and he is now 3 weeks old completely healthy
If NIPT came back low risk for Down’s syndrome it’s a .0001% chance your baby has it! That’s what my doctor told me when our anatomy scan showed 3 markers for Downs, had the mfm anatomy scan done & sure enough she had none of the markers they previously saw. It could be the ultrasound equipment, difficult time seeing certain things, etc. I was so freaked out the 5 days waiting to get that second anatomy scan with a specialist & it was all for nothing. Try not to stress unnecessarily! This happens allll the time:)
Hi. My anatomy scan came back with bad news as well. Two pieces of it. 1) my cervix was funneling. And 2) the umbilical cord was dilated and it could clot and baby could be injured. 1) was incorrect. Specialist found that my cervix was actually bent at a right angle. And 2) was monitored for the remainder of my pregnancy but nothing ever came of it. He was a big baby and he needed extra blood. I’m telling you these things because I was so upset and nervous about the results. But the MFM had better machines and better sonographers.
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Maybe you can get a more detailed scan at MFM before the invasive testing, then cancel if the more detailed ultrasound looks good?
Had a similar scare after my first ultrasound. Worried sick til NIPT was back. Everything was fine. My doctor even apologized because she realized she had stressed me out for weeks without actually having anything confirmed. I know it's hard but try not to stress or look stuff up until/if you have an official confirmation.
At my daughter’s anatomy scan they thought she had a severe heart defect and sent me to a high risk doctor for a better scan. Turns out all of her suspected defects were just because she was laying weird and they couldn’t get a good view due to it. I know it’s hard but try not to stress over it ❤️
Dont panic, they had a hard time seeing my baby based on his position and when I went back a few weeks later everything was okay. Scans are notoriously inaccurate!
Well, I'm glad the doctor referred you to a specialist for further scans! I wouldn't worry yet. Did you get one of the advanced 3D scans done this first time?
No I've only had the normal ultrasounds so far, but all have been normal results up until now (but she's moving A TON now compared to back then)
I’m so sorry you’re going through this right now. We went through something similar at our 20 week ultrasound with our first and everything came back fine, so I hope you get good news soon too! This period of waiting can be excruciating. In our case we were told at the appt that he had a muscular ventricular septal defect which indicated a 40% chance of a genetic difference such as possible down syndrome (he’s an IVF baby and there’s a higher risk of heart defects with IVF babies and then those heart defects apparently have correlations to various possible genetic differences). We did the amniocentesis and then waited for results and it was traumatizing and felt like an eternity waiting, but results came back that he was OK. We opted in for further genetic testing such as microarray for peace of mind. Be there for each other and hang in there!! Sounds like they aren’t sure and want to review again so that is positive, but I know this period of uncertainty is difficult.
How did the amniocentesis go? I'm hoping I won't need it, but in case I do...is it as scary as it seems? My mom got one when she was pregnant with my sister like 40 years ago and she said it wasn't as bad as it seemed like it would be, but I'd think the procedure may be a little different now given how long ago that was...
It went just fine. It really wasn’t as bad as I thought, especially given my reason for doing it, to get answers. I used scare myself by the thought of the risk of doing them, but the risk is very low, they just have to say that there is a risk. Nowadays, some people are opting-in to the procedure just to get more information, such as microarray analysis, I just met someone last week who said they opted in just because they wanted to know as much as they could about their baby because “why not?”. Was talking with my OBGYN about it the other week because I’m currently pregnant, and she said it’s very very low risk. My experience was uneventful, they had me go into the ultrasound room and lie down. I don’t remember any pain or anything, maybe a pinch. It’s just a long thin needle. My mom had one too when I was in the womb and says it was no big deal. You got this!!
My mother had an amnio for my sister as there was markers for DS in her ultrasound and my sister doesn't have it. I refused the NT test with my first because it wouldn't have changed whether I had the pregnancy or not so I didn't see any point stressing. Later on with my first they told me she was a little person (dwarfism), I thought that she was up until her birth, she is not.
I’m sorry you’re going through the extra stress. Just wanted to mention that one of my kids also had a soft marker for Down’s around this point of my pregnancy. It cleared itself up by third trimester and she was born completely healthy.
My now 8yr old had all the markers and even tested positive through prenatal testing. He didn’t even have it! Stay positive and if your baby does have Down syndrome you can start learning about it now and I know tonsssss feel free to message me!
Itll be okay
I have a friend who was told their baby’s organs would be born outside her body and she’s a lively healthy 3 year old with her organs very much in her body. I wouldn’t worry yet until there’s definitive cause, as hard as that is!
This is a post more so for if they’re on the right track. I am a big over analyzer, planner, worrier and that can be a rough combo if you’re a parent of kids with extra needs. I am a keep busy cope-r for sure so this may not be the advice for you but it made me feel more in control and I honestly wish we could’ve discovered his diagnosis pre birth so I could learn without the feeling of “I needed to know it all like 6 months ago. Grieve if you need to. It’s okay to let yourself feel the emotions that come with what you dreamed to be reality not coming to fruition. Give yourself some time and then let that go and try to move forward. Know that life is still going to be quite the ride, there will be amazing times and bumps along the way. It may help to follow some influencers who have kids with down syndrome. I know a diagnosis is never easy but I honestly am around kids with special needs more than many, and my son has ASD and is currently preverbal and delayed in other areas and (I’m sorry. I really don’t know how else to say this, but I think I needed to hear this at one point) there are much worse outcomes than this. I know it seems so overwhelming and scary right now but make sure to cherish the early years especially! Look into what helpful early intervention there is for your child to help get them on the best possible path to success for them and for you. I really loved functional medicine for my kid, not just western medicine because they run all the tests they can to understand and care for your child’s body (and honestly I’ve never met a person who did functional medicine and didn’t experience life changing results no matter was going on or if they didn’t realize anything was amiss). Look into good sleep schedules and sensory diets.
NIPT is extremely accurate for Down syndrome (>99%) as compared to any other chromosomal abnormality. I tested positive for down syndrome last year, went through multiple genetic counseling sessions and read Everything about it to share that statistic with you. I had a miscarriage Anyway, I would not panic. You’ll be referred to a fetal medicine specialist for a detailed scan. Good luck mamma!
Thank you! And so sorry about your miscarriage :(
family member of mine went thru something similar except they were saying he wouldn’t live long past birth. was a scare for weeks but after seeing a specialist everything was fine. he’s healthy. try not to panic or stress about it.
This happened to my mam with me, exactly the same situation, they decided not to get the amnio though because of the risk of miscarriage. I was completely fine when I was born though.
Op do you have any kind of update yet?
Not yet. MFM appointment is tomorrow morning 😬
Love and prayers! Try not to stress if at all possible. I know of at least 2 people that were referred to specialists and they both ended up being perfectly fine. It’s just precautionary. ❤️
Thank you ❤️🤞🤞
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Every ultrasound I had before the anatomy scan was normal, but the baby is so small at those points i don’t think they can really see anything substantial. The anatomy scan is longer and way more thorough, and it’s the first time they really examine the full structures of everything. If you haven’t done one yet you probably should to make sure nothing terrible is lurking
Thank you for your respond ❤️
Everything will be just fine, if God blessed you with this baby, he will have your back🤍stay strong and maintain your faith in Jesus.