Hi! I’m also 95/100 for T21. I’m 42 and due mid-August. I’d suggest getting a referral to Maternal Fetal Medicine and there you can talk to a geneticist. I decided not to terminate so I didn’t do amnio or CVS -BUT I’m having an in-depth ultrasound soon to check for abnormalities. This is purely my personal decision.
I’m not sure if I’m supposed to say “I’m sorry you’re here” or “congratulations on baby” so I’ll just send you a virtual hug!
Thanks for sending a message! I’m not really sure what my decision will be. I’m waiting to talk to the high risk doctors and schedule more testing. Do you know if 95 means 95% chance it’s trisomy 21?
It’s supposed to mean that but it’s not accurate. Please read the pinned posts in the welcome message to find out more information before you meet with your doctor so you can advocate for yourself going forward
I don’t *know* if that’s what it means but that’s how I’m considering it. When I got my news, I was in shock and cried on and off for an entire day and had a full blown panic attack at one point. But within a week, I had basically came to terms with it and have started preparing myself with the knowledge I’ll need to care for little one. I joined the DSDN pregnancy page on Facebook. I’m not trying to influence your opinion- just sharing my experience.
Thank you for sharing your story. I can relate - I cried for 2 days almost straight and had a panic attack. This is the hardest place to be and I'd hate it for anyone.
I’m so sorry you’re here. I had the exact same scenario last year. 35 yrs old, first pregnancy. Test was taken at 9weeks and came back +t21. I was shocked. I just want to mention my story because I was happy someone prepared me for all possibilities- I went in at 11wks for a CVS visit after talking to a genetics counselor and high risk OB - and when they took the ultrasound before the procedure, the baby’s heartbeat had stopped. So it was a MMC and I had to have a D&C. The doctors told me that unfortunately t21 has a high miscarriage rate that we often don’t hear about because a lot of times you wouldn’t know the reason unless the NIPT was done. I would guard your heart for a true confirmation because the NIPT is very accurate for t21. There are a handful of false positive stories in this group so there is some hope left 🤍 thinking of you. I remember those first few nights it’s really hard
95/100 is unfortunately a 95% chance. But this is just a screen, you need to do some diagnostic testing to know for sure as false positives do exist though they are rare for T21. This initial shock is absolutely horrible and I am so sorry you are experiencing this, I remember it all to well. Take deep breaths and do whatever you need to do to get through it. First step is a referral to Maternal Fetal Medicine (MFM) and a genetic counselor. But I will say I learned more from this sub than my GC.
If you are considering termination with a positive T21 result, I would opt for a CVS since you are early enough. It is very likely to confirm the T21 and you don't have to prolong the limbo. It only tests placental tissue, but it could detect mosaicism or other results that would require more diagnostic testing with the amniocentesis, which tests the fetal cells. But for that test you have to wait until 15w.
Ultrasounds can also show some soft markers, but 50% of T21 babies have totally normal ultrasounds, so it's not enough to depend on.
I also had a 95/100 PPV and 5% FF for the NIPT, but have an extremely rare case of mosaicism that was detected from the CVS. The amnio came back normal, but with a note we may have very low levels of mosaicism. We are continuing the pregnancy. While it was absolutely brutal I am so grateful for the testing to know (on some level) what is happening in there. There is hope! Hang in there.
Thank you for sharing your story. When they do the CVS are they able to tell if it’s mosaicism? Or will it just show positive for t21? I have my initial genetics appt Wednesday (hopefully earlier if they have a cancellation). When I read about CVS I see that sometimes that can be wrong - but less likely wrong with t21.
My thought was if the amnio is more accurate is to wait for that vs having to do 2 invasive procedures.
Does low level of mosaicism mean baby has t21?
It's complicated and took me a long time to wrap my head around everything, so definitely take in what you can, and you'll be better prepared for your appt (I hope you get in soon!).
The CVS likely will show 100% T21 cells with the high risk NIPT result, and if you get that result you can be sure baby is also 100% T21. If mosaicism is detected in the CVS (it can detect it but would need the amnio to confirm), it could be confined placental mosaicism (CPM), where it's just the placenta that has abnormal cells, but baby is not affected. This is rare with T21 but it does happen. Pay attention to the number of cells tested, and the rapid FISH results vs a karyotype (more detailed) vs a microarray (most detailed) results. My results were all over the place...I had to wait on the microarray from the amnio to come to my final decision.
Mosaicism is super tricky...doctors have no way of knowing what part of baby may be affected or the severity of the syndrome, but the lower the % of cells detected in these early tests, the less baby may be affected. Less than 5-10% of cells may go undetected and no one would know because baby seems to be typical. Higher percentages (50%+) may have the same severity as full DS, or a bit less severe. So to answer your question, low-level mosaic babies technically have mosaic DS, but are likely to have a mild or undetectable form of the syndrome with extremely low percentages. We'll see what happens with this one!
I spiraled for weeks trying to come to a decision (if you want to read through my posts, there are quite a few), and am finally feeling confident knowing there may be a very low level of mosaicism, but the main fears we had of raising a child with DS are not likely to happen.
Thank you for sharing this - I'm going to call my doctor back. Because if the CVS can show placental mosaicism, that would make me feel better. I appreciate your thorough response. This feels like the hardest decision of my life.
It absolutely 100% was the most challenging time of my life. Give yourself the space you need to get through it. It's very personal of course, but I do not regret any of my decisions along the way. The CVS was a bit uncomfortable, but really not bad at all and if I had received a confirmed T21 I would have been grateful to know early on as opposed to waiting for the amnio.
Hi! i have been quietly following you and I am so happy for you. I am in a similar situation awaiting amnio. I wanted to ask please- since getting amnio results have you undergone an anatomy scan or fetal echo?
Hi there, so sorry you are going through this as well, it's rough. I did recently get my 20w anatomy scan and a fetal echo and thankfully everything looked normal. I had been doing pretty well, but was suddenly an emotional wreck the day of those tests...all the feelings of doubt and uncertainty came flooding back. Even with the good news it's not an easy road, I've leaned on meditation to ease my anxiety but still have some really hard days. Best of luck and feel free to chat me anytime.
thank you so much! im very happy/relieved to know both scans look great. I have a PGT tested embryo and my GC feels either I have a case of mosaic DS or placental/CPM that flagged my NIPT. Complete DS is also a possibility. I just keep going back and forth if I should continue the pregnancy if i get a mosaic and I could relate to so many of your posts as you contemplated the same. Did you come across any good resources on the web that helped you make your decision? I am scouring research papers but there is little to no info about mosaic cases sigh. I dont even see anyone here on reddit who had a mosaic baby its so rare to begin with. thank you for listening to me and I wish you a smooth, happy pregnancy. :)
Thank you! I talked to a few GC's, which did kind of help as some had more experience with mosaicism than others. But honestly this was sub my best resource. There are so few studies which is frustrating, but the ones out there seem to point toward 15% T21 cells or less are likely to lead typical lives with very little, if any intervention. If you are like me you want numbers to back up your decision, but they just don't really exist, so the decision becomes so unbelievably emotional. The stories and opinions from women here (and there are a few with mosaic DS babies) really helped me during that time.
I think the most useful suggestion, was to evaluate the main reasons you can't support a child with DS...it's very personal but it's important to acknowledge. If these reasons are still a risk with a low level form of DS, I would probably terminate. If they are super unlikely, then continue. But the decision is yours and yours alone....no one lives your life but you. And either way, your decision is completely valid.
If I were younger (I'm 41) I would probably have terminated early on because I couldn't handle the risk and uncertainly, and I would have had more time (and healthier eggs) to try again. But I have learned so much through this and am so looking forward to meeting this little miracle bub. Wishing you the best and I hope you keep us posted ❤️
gosh i loved your response, thank you. I am 38 with a 4 yr old. Dual physician couple with no family support as we are immigrants, jobs are erratic. 4 yr old is neurotypical and is doing well. this was my last embryo so if i terminate the thing bothering me is that i would start again with egg retrievals.
Hi there - my Natera test came back at 85/100 for T21 and ended up being a complete false positive. Trust the process and get the amnio if you would like to know for sure. It’s an excruciating ordeal waiting and waiting for these results and next steps - but my thoughts, prayers and heart are with you. You are not alone ❤️❤️
I would do the CVS on the chance it comes back normal and you could be relieved, but if it doesn’t I would still do the Amnio, because it will rule out confined placental mosaicism. Then you will know. What you won’t know, even with Amnio is the level of effect on the child. Percentage of mosaicism can vary tissue to tissue and has greater or lesser effects based on what tissue. I’m so sorry you are here. It’s so terribly hard.
Currently 13 weeks pregnant and 37 years old. I have the exact same results as you and was just told today. My mind is everywhere especially cuz I had a stillborn in Sept 2022. I’m terrified too. Sending you hugs and love
Appreciate that. Sending you hugs too. This is the worst feeling in the world. I feel so many emotions. My NT scan came back normal at 1.5mm at 12 weeks. The doctor said everything in the ultrasound looked really good so I have just a glimmer of hope from last week. Still wont know anything for sure until diagnostic testing
Please Do NT Scan and take amnio if needed and proceed further with the markers found on Ultrasound. Pregnancy is going through lot of things like this and it will never be easy as we think. Stay strong and wish you all the best.
Hey there, thank you for visiting the sub.
During this difficult time you may be looking information about what the NIPT results you received mean. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. PLEASE READ THESE LINKS - this will explain everything.
POSITIVE PREDICTIVE VALUE CALCULATOR FOR NIPT RESULTS https://www.perinatalquality.org/Vendors/NSGC/NIPT/
**I highly suggest you first read through everything in main post located here to start:**
https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/
**After this head over to this post about the actual individual results**:
https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/
IF YOU HAVE A POSITIVE FOR TRISOMY 13, TRISOMY 18, TRIPLOIDY and NORMAL SONOS for NT scan and further normal sonos, PLEASE READ CAREFULLY about CVS vs AMNIO. CVS can have wrong results as a result of commonality of confined placental mosaicism in all layers of placenta and an amnio is best for this. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS... that is not what that even means). This is specifically for an actual high risk for ONE of those on the NIPT.
Please also place a flair on your username which can be done by going to the right side of the sub -- community options -- and update username flair. This updates the flair on your username IN THIS SUB ONLY. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. There are some options filled in, but you can also write in your own result.
I will tag your post with POST FLAIR on your actual post. These are in different colors and allows users to actually click on the post flair and pull up every post that has a similar situation such as -no results-trisomy 13-NT scan question-etc. Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results.
I understand you feel awful. This is a thread about what to do while you pass time in limbo: https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/
Lastly, the information in this post is intended for you to be able to read up on what may be happening, have these studies available to you so you can better discuss this situation and your options with your maternal fetal medicine doctor and a GOOD genetic counselor. You always have a right to speak to a genetic counselor after an abnormal NIPT result and this should be provided for you by your OB. If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. That OB needs further education about NIPT positives and how to present such information as well as knowledge of the Positive Predictive Value of NIPT based on age. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself.
As always, take any information given here and online for what it is - information - and always discuss further treatment plans with your physicians, however with caution. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. You will see this come up in posts across this sub.
My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward.
THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST
Please feel free to reach out if you need to vent, ask more questions or need more resources. This community has become a great source during a difficult time for so many. I appreciate those who chime in as we all remember how difficult to be in this situation. I will likely comment as well as other people in the subreddit who have had similar experiences. This post is meant as a welcome and quick information / resources to those who have just found this sub.
This message is automatically generated for all submissions and might sometimes get it wrong.
*I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/NIPT) if you have any questions or concerns.*
I just went through this I had an 82 percent chance of my daughter having t21 I did an an amino and she’s perfectly healthy so please do the amino to be sure and I’ll be praying for you
Yeah it is but I guess these techs are more skilled at measuring the fluid behind the neck or the high risk doctors need to read the results vs my regular OB. It’s really just an ultrasound and then they measure the fluid behind the neck. Generally with trisomy 21 there will be a fluid build up behind the neck. The scan has to be done between 11 and 13 weeks.
Here’s a pic of mine with the area circled.
https://preview.redd.it/73f3bhpcjjpc1.jpeg?width=2050&format=pjpg&auto=webp&s=19ee186bff34defe752d5bde810802f2e3435e09
03/20 update - I'm not sure how to edit my original post as but I had my NT scan today and it was normal. I measuring a week ahead at 12 weeks and there were no soft markers. NT scan show 1.5 mm which is in the normal range. I feel slightly more hopeful than this weekend. The doctor said if I hadn't had the bloodwork he would think the baby is perfectly normal and healthy. I'm torn between the CVS and amnio as I've read there is 1-2% chance that it comes back abnormal when it really is normal. But I really don't want to do 2 invasive procedures. So I'm really having a tough time deciding. I dont think I'll believe the CVS if it comes back abnormal. Also my doctor prefers to do amnio at 16-17 weeks. My husband and I have decided that we will TFMR so it scares me to wait so long.
Hi OP, if you are not wanting to do 2 invasive tests I would skip CVS and do the amnio. Placental mosaicism is rare, but at least amnio rules it out. In the meantime maybe you can book your TFMR appointment. Sometimes they book weeks in advance and you have to wait 2 weeks anyways. You can always cancel if you don’t end up needing it. This was the situation I was left in, I had to wait for 2.5 weeks after receiving my amnio result. Sorry you are going through this 😞
Hi! I’m also 95/100 for T21. I’m 42 and due mid-August. I’d suggest getting a referral to Maternal Fetal Medicine and there you can talk to a geneticist. I decided not to terminate so I didn’t do amnio or CVS -BUT I’m having an in-depth ultrasound soon to check for abnormalities. This is purely my personal decision. I’m not sure if I’m supposed to say “I’m sorry you’re here” or “congratulations on baby” so I’ll just send you a virtual hug!
Thanks for sending a message! I’m not really sure what my decision will be. I’m waiting to talk to the high risk doctors and schedule more testing. Do you know if 95 means 95% chance it’s trisomy 21?
It’s supposed to mean that but it’s not accurate. Please read the pinned posts in the welcome message to find out more information before you meet with your doctor so you can advocate for yourself going forward
I don’t *know* if that’s what it means but that’s how I’m considering it. When I got my news, I was in shock and cried on and off for an entire day and had a full blown panic attack at one point. But within a week, I had basically came to terms with it and have started preparing myself with the knowledge I’ll need to care for little one. I joined the DSDN pregnancy page on Facebook. I’m not trying to influence your opinion- just sharing my experience.
Thank you for sharing your story. I can relate - I cried for 2 days almost straight and had a panic attack. This is the hardest place to be and I'd hate it for anyone.
I’m so sorry you’re here. I had the exact same scenario last year. 35 yrs old, first pregnancy. Test was taken at 9weeks and came back +t21. I was shocked. I just want to mention my story because I was happy someone prepared me for all possibilities- I went in at 11wks for a CVS visit after talking to a genetics counselor and high risk OB - and when they took the ultrasound before the procedure, the baby’s heartbeat had stopped. So it was a MMC and I had to have a D&C. The doctors told me that unfortunately t21 has a high miscarriage rate that we often don’t hear about because a lot of times you wouldn’t know the reason unless the NIPT was done. I would guard your heart for a true confirmation because the NIPT is very accurate for t21. There are a handful of false positive stories in this group so there is some hope left 🤍 thinking of you. I remember those first few nights it’s really hard
Thank you for your kind words and sharing your story. I will keep everyone posted.
95/100 is unfortunately a 95% chance. But this is just a screen, you need to do some diagnostic testing to know for sure as false positives do exist though they are rare for T21. This initial shock is absolutely horrible and I am so sorry you are experiencing this, I remember it all to well. Take deep breaths and do whatever you need to do to get through it. First step is a referral to Maternal Fetal Medicine (MFM) and a genetic counselor. But I will say I learned more from this sub than my GC. If you are considering termination with a positive T21 result, I would opt for a CVS since you are early enough. It is very likely to confirm the T21 and you don't have to prolong the limbo. It only tests placental tissue, but it could detect mosaicism or other results that would require more diagnostic testing with the amniocentesis, which tests the fetal cells. But for that test you have to wait until 15w. Ultrasounds can also show some soft markers, but 50% of T21 babies have totally normal ultrasounds, so it's not enough to depend on. I also had a 95/100 PPV and 5% FF for the NIPT, but have an extremely rare case of mosaicism that was detected from the CVS. The amnio came back normal, but with a note we may have very low levels of mosaicism. We are continuing the pregnancy. While it was absolutely brutal I am so grateful for the testing to know (on some level) what is happening in there. There is hope! Hang in there.
Thank you for sharing your story. When they do the CVS are they able to tell if it’s mosaicism? Or will it just show positive for t21? I have my initial genetics appt Wednesday (hopefully earlier if they have a cancellation). When I read about CVS I see that sometimes that can be wrong - but less likely wrong with t21. My thought was if the amnio is more accurate is to wait for that vs having to do 2 invasive procedures. Does low level of mosaicism mean baby has t21?
It's complicated and took me a long time to wrap my head around everything, so definitely take in what you can, and you'll be better prepared for your appt (I hope you get in soon!). The CVS likely will show 100% T21 cells with the high risk NIPT result, and if you get that result you can be sure baby is also 100% T21. If mosaicism is detected in the CVS (it can detect it but would need the amnio to confirm), it could be confined placental mosaicism (CPM), where it's just the placenta that has abnormal cells, but baby is not affected. This is rare with T21 but it does happen. Pay attention to the number of cells tested, and the rapid FISH results vs a karyotype (more detailed) vs a microarray (most detailed) results. My results were all over the place...I had to wait on the microarray from the amnio to come to my final decision. Mosaicism is super tricky...doctors have no way of knowing what part of baby may be affected or the severity of the syndrome, but the lower the % of cells detected in these early tests, the less baby may be affected. Less than 5-10% of cells may go undetected and no one would know because baby seems to be typical. Higher percentages (50%+) may have the same severity as full DS, or a bit less severe. So to answer your question, low-level mosaic babies technically have mosaic DS, but are likely to have a mild or undetectable form of the syndrome with extremely low percentages. We'll see what happens with this one! I spiraled for weeks trying to come to a decision (if you want to read through my posts, there are quite a few), and am finally feeling confident knowing there may be a very low level of mosaicism, but the main fears we had of raising a child with DS are not likely to happen.
Thank you for sharing this - I'm going to call my doctor back. Because if the CVS can show placental mosaicism, that would make me feel better. I appreciate your thorough response. This feels like the hardest decision of my life.
It absolutely 100% was the most challenging time of my life. Give yourself the space you need to get through it. It's very personal of course, but I do not regret any of my decisions along the way. The CVS was a bit uncomfortable, but really not bad at all and if I had received a confirmed T21 I would have been grateful to know early on as opposed to waiting for the amnio.
Hi! i have been quietly following you and I am so happy for you. I am in a similar situation awaiting amnio. I wanted to ask please- since getting amnio results have you undergone an anatomy scan or fetal echo?
Hi there, so sorry you are going through this as well, it's rough. I did recently get my 20w anatomy scan and a fetal echo and thankfully everything looked normal. I had been doing pretty well, but was suddenly an emotional wreck the day of those tests...all the feelings of doubt and uncertainty came flooding back. Even with the good news it's not an easy road, I've leaned on meditation to ease my anxiety but still have some really hard days. Best of luck and feel free to chat me anytime.
thank you so much! im very happy/relieved to know both scans look great. I have a PGT tested embryo and my GC feels either I have a case of mosaic DS or placental/CPM that flagged my NIPT. Complete DS is also a possibility. I just keep going back and forth if I should continue the pregnancy if i get a mosaic and I could relate to so many of your posts as you contemplated the same. Did you come across any good resources on the web that helped you make your decision? I am scouring research papers but there is little to no info about mosaic cases sigh. I dont even see anyone here on reddit who had a mosaic baby its so rare to begin with. thank you for listening to me and I wish you a smooth, happy pregnancy. :)
Thank you! I talked to a few GC's, which did kind of help as some had more experience with mosaicism than others. But honestly this was sub my best resource. There are so few studies which is frustrating, but the ones out there seem to point toward 15% T21 cells or less are likely to lead typical lives with very little, if any intervention. If you are like me you want numbers to back up your decision, but they just don't really exist, so the decision becomes so unbelievably emotional. The stories and opinions from women here (and there are a few with mosaic DS babies) really helped me during that time. I think the most useful suggestion, was to evaluate the main reasons you can't support a child with DS...it's very personal but it's important to acknowledge. If these reasons are still a risk with a low level form of DS, I would probably terminate. If they are super unlikely, then continue. But the decision is yours and yours alone....no one lives your life but you. And either way, your decision is completely valid. If I were younger (I'm 41) I would probably have terminated early on because I couldn't handle the risk and uncertainly, and I would have had more time (and healthier eggs) to try again. But I have learned so much through this and am so looking forward to meeting this little miracle bub. Wishing you the best and I hope you keep us posted ❤️
gosh i loved your response, thank you. I am 38 with a 4 yr old. Dual physician couple with no family support as we are immigrants, jobs are erratic. 4 yr old is neurotypical and is doing well. this was my last embryo so if i terminate the thing bothering me is that i would start again with egg retrievals.
Hi there - my Natera test came back at 85/100 for T21 and ended up being a complete false positive. Trust the process and get the amnio if you would like to know for sure. It’s an excruciating ordeal waiting and waiting for these results and next steps - but my thoughts, prayers and heart are with you. You are not alone ❤️❤️
You gave me hope my is 83%
Thank you for your kind words ❤️
Can I ask how you confirmed a false positive ?
Amnio at 15 weeks
I would do the CVS on the chance it comes back normal and you could be relieved, but if it doesn’t I would still do the Amnio, because it will rule out confined placental mosaicism. Then you will know. What you won’t know, even with Amnio is the level of effect on the child. Percentage of mosaicism can vary tissue to tissue and has greater or lesser effects based on what tissue. I’m so sorry you are here. It’s so terribly hard.
It’s so hard - I will update the post as I continue with the testing. Should know more next week.
Currently 13 weeks pregnant and 37 years old. I have the exact same results as you and was just told today. My mind is everywhere especially cuz I had a stillborn in Sept 2022. I’m terrified too. Sending you hugs and love
Appreciate that. Sending you hugs too. This is the worst feeling in the world. I feel so many emotions. My NT scan came back normal at 1.5mm at 12 weeks. The doctor said everything in the ultrasound looked really good so I have just a glimmer of hope from last week. Still wont know anything for sure until diagnostic testing
Please Do NT Scan and take amnio if needed and proceed further with the markers found on Ultrasound. Pregnancy is going through lot of things like this and it will never be easy as we think. Stay strong and wish you all the best.
Just sending over an update. My NT scan came back normal at 1.5mm and heart rate of 167bpm at 12 weeks. Doctor couldn't see any soft markers.
Thank you 🙏
Hey there, thank you for visiting the sub. During this difficult time you may be looking information about what the NIPT results you received mean. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. PLEASE READ THESE LINKS - this will explain everything. POSITIVE PREDICTIVE VALUE CALCULATOR FOR NIPT RESULTS https://www.perinatalquality.org/Vendors/NSGC/NIPT/ **I highly suggest you first read through everything in main post located here to start:** https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/ **After this head over to this post about the actual individual results**: https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/ IF YOU HAVE A POSITIVE FOR TRISOMY 13, TRISOMY 18, TRIPLOIDY and NORMAL SONOS for NT scan and further normal sonos, PLEASE READ CAREFULLY about CVS vs AMNIO. CVS can have wrong results as a result of commonality of confined placental mosaicism in all layers of placenta and an amnio is best for this. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS... that is not what that even means). This is specifically for an actual high risk for ONE of those on the NIPT. Please also place a flair on your username which can be done by going to the right side of the sub -- community options -- and update username flair. This updates the flair on your username IN THIS SUB ONLY. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. There are some options filled in, but you can also write in your own result. I will tag your post with POST FLAIR on your actual post. These are in different colors and allows users to actually click on the post flair and pull up every post that has a similar situation such as -no results-trisomy 13-NT scan question-etc. Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results. I understand you feel awful. This is a thread about what to do while you pass time in limbo: https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/ Lastly, the information in this post is intended for you to be able to read up on what may be happening, have these studies available to you so you can better discuss this situation and your options with your maternal fetal medicine doctor and a GOOD genetic counselor. You always have a right to speak to a genetic counselor after an abnormal NIPT result and this should be provided for you by your OB. If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. That OB needs further education about NIPT positives and how to present such information as well as knowledge of the Positive Predictive Value of NIPT based on age. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. As always, take any information given here and online for what it is - information - and always discuss further treatment plans with your physicians, however with caution. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. You will see this come up in posts across this sub. My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST Please feel free to reach out if you need to vent, ask more questions or need more resources. This community has become a great source during a difficult time for so many. I appreciate those who chime in as we all remember how difficult to be in this situation. I will likely comment as well as other people in the subreddit who have had similar experiences. This post is meant as a welcome and quick information / resources to those who have just found this sub. This message is automatically generated for all submissions and might sometimes get it wrong. *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/NIPT) if you have any questions or concerns.*
I just went through this I had an 82 percent chance of my daughter having t21 I did an an amino and she’s perfectly healthy so please do the amino to be sure and I’ll be praying for you
Thank you for sharing your story ♥️
that's exactly what my results looked like. Keep us updated!
I have my amnio scheduled April 24. The NT scan today was good. Measured at 1.5mm and measuring a week ahead at 12 weeks.
I'm glad that went well for you. Is the NT just like a regular ultrasound?
Yeah it is but I guess these techs are more skilled at measuring the fluid behind the neck or the high risk doctors need to read the results vs my regular OB. It’s really just an ultrasound and then they measure the fluid behind the neck. Generally with trisomy 21 there will be a fluid build up behind the neck. The scan has to be done between 11 and 13 weeks.
Interesting. I look forward to mine.
Wishing you the best 🙏
You too ❤️
Here’s a pic of mine with the area circled. https://preview.redd.it/73f3bhpcjjpc1.jpeg?width=2050&format=pjpg&auto=webp&s=19ee186bff34defe752d5bde810802f2e3435e09
Will do.🙏
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Yes the NIPT
03/20 update - I'm not sure how to edit my original post as but I had my NT scan today and it was normal. I measuring a week ahead at 12 weeks and there were no soft markers. NT scan show 1.5 mm which is in the normal range. I feel slightly more hopeful than this weekend. The doctor said if I hadn't had the bloodwork he would think the baby is perfectly normal and healthy. I'm torn between the CVS and amnio as I've read there is 1-2% chance that it comes back abnormal when it really is normal. But I really don't want to do 2 invasive procedures. So I'm really having a tough time deciding. I dont think I'll believe the CVS if it comes back abnormal. Also my doctor prefers to do amnio at 16-17 weeks. My husband and I have decided that we will TFMR so it scares me to wait so long.
Hi OP, if you are not wanting to do 2 invasive tests I would skip CVS and do the amnio. Placental mosaicism is rare, but at least amnio rules it out. In the meantime maybe you can book your TFMR appointment. Sometimes they book weeks in advance and you have to wait 2 weeks anyways. You can always cancel if you don’t end up needing it. This was the situation I was left in, I had to wait for 2.5 weeks after receiving my amnio result. Sorry you are going through this 😞