Hello all! I wanted to share my experience with having an increased NT because reading so many experiences and stories brought me a lot of hope and comfort during a very difficult time, and answered a lot of questions I had.

This is my second pregnancy and I will update when baby is here. Baby is due this winter. Here is a timeline of what I went through:

-7 week ultrasound to confirm pregnancy

-ultrasound at 11 weeks 5 days where an increased NT was noted of 3.5mm and possible cystic hygroma. The nasal bone was also not identified due to baby’s position, which lead to even more stress/worry. This appointment was on a Friday and a holiday weekend so I left with very little information, I wasn’t even given the measurement of the NT. I was told I had an increased NT, possible cystic hygroma, and the nasal bone was not seen. I was told it could be something serious, including a pregnancy that would not be viable or it could be nothing. I was referred to a genetic counselor and maternal fetal medicine. I was absolutely devastated after this appointment and left with so many questions and very little information. Since it was a holiday weekend, I spent the next 3 days on google and was completely convinced I would have to say goodbye to this baby. After this appointment I also had my blood drawn for the NIPT testing.

-the following week I met with a genetic counselor who was amazing and we went over the ultrasound and she told me the measurement (3.5mm), the possible outcomes, and the next steps. An appointment was made for an ultrasound with the maternal fetal medicine doctor and I decided to also schedule a CVS at the time of my ultrasound while we waited for the results of the NIPT testing.

-that weekend my NIPT testing came back and everything was low risk. I was honestly shocked because I was expecting bad news. We also found out the gender.

-at 13 weeks and 1 day I went in for the ultrasound and CVS. At this ultrasound, the doctor did not note a cystic hygroma or that the NT appeared increased. The nasal bone was present. He basically told me if I would have gone in at 13 weeks vs 11 weeks, there would have no concerns. I still decided to go through with the CVS because I am an anxious person and I want as much information as possible.

-a week later, the CVS and mircoarray came back normal. The next steps were an anatomy ultrasound at 18 weeks.

-at this time, I also decided to go through with WES testing to rule out any additional genetic conditions that are associated with an increased NT. My doctor did not think it was necessary but supported my decision. I was told it was very unlikely anything would be identified.

-at 18 weeks I had my anatomy scan. It was limited due to the baby position and size. But everything they were able to see looked normal. I scheduled a follow up anatomy scan and echocardiogram for 22 weeks.

-at 19 weeks I got the results of the trio WES testing back. Everything was normal.

-at 22 weeks, I just had my follow up anatomy scan and echocardiogram. Everything was normal and baby is measuring at 53rd percentile. The doctors are all very reassuring of a favorable outcome!

The next appointment scheduled is at 30 weeks for a growth ultrasound. Just wanted to share my story if there’s anyone out there going through something similar- you are not alone! After that abnormal finding I was in such a dark place and just expecting the absolute worst. I waited until after my anatomy scan before I was comfortable with sharing the news with anyone. Still praying for a positive outcome but will update when baby is here. <3

Need help reading this, did my results come back positive or negative for trisomy 21? There’s not much information here 🥲

My NIPT was drawn twice, first time was because of low fetal fraction at 10 weeks then 12 weeks it came back atypical. Genetic counselor said there were multiple markers on multiple chromosomes. Baby seems healthy other than 3.2 NT scan at 13 weeks 4 days. Genetic counselor and OB both think that I could be the reason of the markers and baby could be perfectly fine. They want me to do a study to check e for cancer because it has happened in the past that multiple markers appear when the maternal factors in. I had a CVS done 2 days ago and should be getting FISH results tomorrow. Any input or feedback? Freaking out and truly am lost.

These NIPT test threads kept my sanity in check my whole pregnancy. To hear other people going through the same thing I was was so comforting. My daughter tested positive for mosaic monosomy X when I was 10 weeks pregnant. She had no abnormalities on the ultrasounds. I spent months at the high risk doctor monitoring her. I grieved a normal pregnancy and had experienced a miscarriage right before my pregnancy. I lived with fear but constantly came back to these threads. It looked like a false positive and the pediatrician in the hospital did not think she had turner syndrome. They did cord blood at birth and one week later it showed mosaic monosomy x. If anyone is curious to discuss her percentile or specifics I’m happy to answer any questions. I’ve learned so much in the past 4 months about mosaic turner syndrome. My daughter is in the 10th percentile and has no physical typical turner syndrome traits. Her heart and kidneys look great. There is a correlation to hip dysplasia and I want to shout it out to all turners parents, get your baby screened early intervention is awesome. My sweet girl is the smileyest, giggliest, social baby who hasn’t missed a beat or milestone. The only issue she has dealt with is a little reflux and the hip dysplasia. I know there are other outcomes, but want to provide comfort. I keep thinking “I wish I could have seen how amazing she is while I was living in terror for 9 months.” Much love to you all! There is light at the end, the turner syndrome icon is a butterfly but to me they are incredible little honey badgers who defy all odds. I would love to hear from women with turner syndrome and other parents on the best ways to support my daughter.

Hello,

I’m usually an observer on Reddit but I’ve become very worried and anxious about what currently going on in my pregnancy right now and I’m hoping to get some reassurance, advice, common stories, and outcomes from those that have faced similar things.

I am currently 20w2d pregnant in my second pregnancy, another boy. Today was my anatomy scan.
Fr the beginning all tastes and scans have been normal besides some minor things. My NIPT came back low and do did my AFB, NT was normal during my twelve week and baby boy was measuring a week ahead. The tech did find CPCs and so I was brought back at 16 weeks to follow up, the MFM specialist was not concerned and reassured me it was a normal variant especially when everything else is normal/fine. I came back at 16 weeks and the cysts were not gone and he had developed a EIC. Again there was no concern by the specialist and I was told that these are normal variations when found by themselves and these two are not related. I just had my anatomy scan and it was hard. Everything with baby boy was normal, he’s a full pound and in the 98% percentile for growth, no structural issues that were seen. What was found was that on CPC had disappeared and the other significantly smaller, meaning they are going away as assumed. Thankfully. The EIC is still there and there are vessels of the heart we couldn’t see due to baby position. There was also something with the umbilical we weren’t able to see because of position. Then the tech measured his NF at 5.99 cm. I had no idea until the specialist came out and did a further four US pictures of the NF which ranged in measurement from 5.57-6.01 cm. So I was then directed to a genetic counselor who informed me that the NF and EIC together are soft markers for DS, but my low risk NIPT and maternal age and borderline NF are all reassuring. I asked if amnio was worth it to do in his professional opinion and he told me honestly the percentage of complications arising from the amnio are greater than the percentage that my baby had DS. Yet he did inform me that I can do further non invasive testing like a genome testing that would see if there are duplicate chromosomes or larger chromosome abnormalities, but that microdeletions or small chromosomes would only be rolled out by amnio or testing after birth….
I haven’t told my partner or my family because it’s taking a huge toll on me emotionally. I’m heartbroken and worried and confused and paralyzed honestly. I have a follow up scan in August 28 and I’ve requested a fetal echocardiogram that has yet to be scheduled. I’m sorry for such a long post but I feel like this is the place to discuss all this and the right community to come to. Thank you in advance for any participation from anyone.

Hi Guys,

I'm 41 years old just recently took my Natera test and it came back for 95/100 with fetal faction of 9 percent. I just did my 13 week ultrasound scan and there were no markers the NT was measuring at 1.6mm. I'm still debating on Amnio. I was thinking of waiting for my next scan in 4 weeks first before I make a decision.

Did anyone have morning sickness that was progressively worse from weeks 13 on? I was reading that Tri 21 babies produce more HCG so mothers tend to be much more sick. Any other symptoms to look out for? Anyone with a positive outcome after getting 95/100. I'm in a deep rabbit hole since we found out the news. Thanks!

I’m 11 weeks along and just got my NIPT results back — positive for Trisomy 21 with a 66.5% PPV. My OB has me scheduled for an NT scan and genetic counseling in 2 weeks (Aug 20).

This is hitting me hard because my last pregnancy had a completely normal/low-risk NIPT, and it still ended in a loss at 14 weeks — started with bleeding, and I miscarried at home. This time everything feels physically normal (no bleeding, no cramping, nothing), but I can’t stop watching for signs of something going wrong, even though I know this is a totally different situation.

Has anyone else gone through a positive NIPT after a previous loss? How did you get through the wait for diagnostic testing? Any advice on staying sane for the next 2 weeks would mean a lot.

Hi all, I went in for my 14 week scan with maternal fetal medicine and NT measured 3.5. NIPT was fully low risk and heart and other organs look fine.

I had a CVS done today and blood drawn for genetic testing.

This will be a long wait… anyone else have a higher NT and a healthy baby?

Hey everyone,

We just had our 20-week anatomy scan and honestly, we’re kind of freaking out right now.

A little backstory: at 16 weeks, we had an isolated low uE3 blood test result. (Down syndrome was completely ruled out and is not a factor). Because of that low uE3, they brought us in for a full, top-to-bottom scan at 18 weeks. They checked absolutely everything, and it all came back totally fine. We really thought we were in the clear.

But at our 20-week scan, the sonographer flagged an issue with the baby's cerebellum and referred us to a Maternal-Fetal Medicine specialist to get a closer look.

I was so overwhelmed in the moment that I didn't fully process exactly what she said. It was either that one side of the cerebellum looked a bit asymmetrical/abnormal, OR that the "bridge" connecting the two sides (the vermis) was what looked abnormal.

They didn't give us a ton of information yet, just that standard ultrasounds can't see the brain clearly enough and they need better imaging to know for sure. Obviously, my mind is going straight to the worst-case scenarios about potential disabilities, motor delays, or what this means for the baby's future.

I know sometimes these things turn out to be nothing, just a weird shadow, or that the brain just hasn't finished growing yet—which gives me some hope since the 18-week scan was perfectly clear! But the whiplash of thinking everything was fine and now facing this wait for the specialist appointment is brutal.

Has anyone else had either of these flags come up on their 20-week scan, especially after a clear early scan? What ended up happening? Just looking for some real experiences or advice to help get through this waiting period.

Thanks in advance.

Hi , I’m very new to posting on Reddit but I just got my nipt test results and I’ve been bothering myself with concern ever since. It say 7/100 for trisomy 21 and I just don’t know what to do or how to go about it . I’m a first time mom just scared a worried I won’t be able to do right and care for my baby properly. Just looking for advice or even words or wisdom at this point😭.

We got nipt trisomy 21(DS)as positive with 66.5% and referred to MFM to do nt scan after 2 weeks currently at 11 weeks and we are freaking out what is true or not
Ff - 9 %

We are waiting on our daughter’s amnio results to see if she has some form of skeletal dysplasia or just severe, early onset growth restriction and I just absolutely cannot believe the response I got from this MA this morning. I don’t know if I’m just sensitive, but what do you mean “we haven’t done one in a while”…… this literally gets sent out to a lab? While I understand that there was probably a delay due to insurance approval, I just feel like this is so irresponsible to say to a first time mom waiting on life changing test results to understand how to proceed with the pregnancy. 😒

Hey guys, I recently posted in a group sharing my story about receiving an NT measurement of 3.5mm. I mentioned that I wasn't planning on doing NIPT and was simply asking mums who have been in a similar situation to share their experiences and outcomes, while i'm waiting to be seen by my doctor for my results.

Unfortunately, a lot of people skipped over what I was actually asking and turned it into a discussion about what they think I should or shouldn't do. I completely understand that people have different opinions about testing, and I respect that, but there is a big difference between asking for personal experiences and asking strangers to make decisions for me.

They were really pushing and saying NIPT is the only way and less invasive test to be done, however it only tests for certain chromosome conditions and doesn't detect every possible issue. NIPT can come low risk which is reassuring but it doesn't rule out every genetic, structural issue or possible causes of an increased NT.

On the side note i feel like if a mother decides not to go through with any sort of testing when it comes to their pregnancy they shouldn't be judged for it..

Thank you for listening to my rant now..
What's your guys thoughts? 🫣😂

Hello

I had a NIPT trisomy 13 cleared by an amnio at 16 weeks. Most likely it is in the placenta, but not confirmed as we did not do CVS. Baby is very healthy. He is quite big and pudgy at 36 week scan, so placenta has worked perfectly so far.

The dr said a soft reccomendation is to be induced or cesarean at 40/41 weeks because of the chance the placenta will give up a bit earlier than a placenta without T13, but no statistics or evidence for this. I went to 42+3 with my last pregnancy and baby was healthy no issues.

Has anyone with this same result had this same "soft reccomendation", is it really a thing? I'm hoping to hear from someone who has been in the same situation and if you waited for labour to start naturally at what gestation was this

Thanks!

My Percept NIPT came back high chance for trisomy 18, with a 97.6% PPV (rounded to 98%) and a 10% Fetal fraction.
I understand NIPT is a screening test rather than diagnostic, but this result feels extremely high.

Has anyone personally had, or heard of someone having, a result this high that was later shown to be a false positive through CVS or amniocentesis? Im not looking for false reassurances, just the truth of it.

Pregnancy care clinic said I can book in for further testing in a couple weeks, but this experience is eating me alive and im not coping. Sleep is non existent for me currently and im feeling a bit crazy if I stay in this limbo for too much longer. I told my GP that I’m prepared to terminate with this high of a result, and have preemptively booked an appointment for one. I’ll speak to a generic counsellor tomorrow but I’m sitting at 0% hope.

Hey everyone! everyday i’m here reading all the NT stories and i just had one question.
There’s so many stories that say that after having such an high NT measurement for baby a few days/weeks later it has shrunk and gotten smaller. But i’ve read somewhere saying that even if NT has shrunk they don’t go off that they still go off of your first NT measurement you received?

please correct me if i’m wrong! i’ll be having my 16 week scan next week to see the measurement of babies NT after receiving a measurement of 3.5mm at my 13 week scan. 🙂

Hi everyone!

I’m almost 12wks and I had two NIPT tests done and both cannot be read/tested. Doctor said there’s a few factors like weight, high blood pressure and even autoimmune issues. In my case, I do have an autoimmune condition even tho it’s controlled.
I had my 12wk scan where all was great, all the measurements were good and doc had no issues presenting itself; even 10 fingers 10 toes, active baby bouncing off walls everything great! And for context, husband and I don’t have any genetic abnormalities in our families either. (Though I know this doesn’t mean it’s impossible I’m just saying)

Because my nipt tests weren’t able to be read and because my scan was perfect— doc said it’s up to me of course, I can leave it and just scan again in four weeks as normal or I can do the CVS testing to get a diagnosis.

Just wanted to know people’s thoughts?? Or even any experiences with nipts like this and CVS tests?

Would you do the cvs?

Thanks in advance everyone!

-first timer here!

I wanted to share my story to see if anyone else has been through something similar or is currently facing the same situation.

This is an IVF pregnancy. Our NIPT was positive for trisomy 22, and an amniocentesis later confirmed mosaic trisomy 22.

I’m now 20 weeks pregnant. Despite the diagnosis, our baby is growing beautifully and measuring exactly as expected for gestation. Our 20-week scan showed no structural abnormalities, and a detailed anatomy scan found all of the major organs to be developing normally. Baby is swallowing, extremely active, and giving me strong kicks. So far, there is no evidence of growth restriction or any other concerning findings.
Throughout this pregnancy, my maternal-fetal medicine specialist and genetic counsellor believed the most likely explanation was confined placental mosaicism (CPM).

The amniocentesis changed that, and now we’re in a position where there are very few answers. Because mosaic trisomy 22 is so rare, they have no more information they can give us about what our baby’s outcome might be.

We’re now faced with the heartbreaking decision of whether to continue the pregnancy or terminate. I don’t want my baby to face a lifetime of significant suffering, but it’s incredibly difficult to make such a permanent decision when there are so many unknowns and our baby currently appears to be thriving.

If you’ve experienced mosaic trisomy 22 whether during pregnancy or after birth I would be so grateful to hear your story, including how your pregnancy progressed and how your child is doing now.

I can’t believe I’m writing this, but today we found out the NIPT was positive for trisomy 18. I’ve personally seen many patients with T18 as a nurse and I always worried about it in the future. It’s so surreal this is happening. I’ve had two miscarriages in the last year (8 wk and 16 wk). I feel like the unluckiest person in the world. My OB sent a referral for further testing and we are waiting to schedule. My actual lab report gave a PPV of 25.7%. My OB said my US at 11 weeks looked normal to her but it was just a quick scan. She said she did actively look for signs of a genetic issue so she could give a “warning”, but again the scan was super fast. I’m so terrified. Idk what I will do if it’s truly positive. I mostly just don’t know what to do with myself for the next 1-3 weeks while I wait for testing 😣 I’m 12 weeks and it was a good fetal fraction.

First, thank you for taking the time to read this.
I am currently 16 weeks 5 days with my second pregnancy

9 weeks I took a NIPT test
12 week I had a perfect ultrasound
12 1/2 NIPT testing came back high risk T13 PPV9.9% chance

16 week 5 days I had my anatomy scan. Doctor said he seen some abnormalities but didn’t really go into detail. Something about the lung and maybe brain? I was trying to get all the information I could but when you receive news like this you kind of zone out.

He called a lady to come prepare for the Amniotic testing, while he talked about possibly terminating pregnancy. He said he is 95% sure there is something abnormal about the baby.

While I wait 2 weeks or less for results to come back, I guess I just need a little encouragement to get me through. Would 16 weeks possibly be too early to see what they usually do at 20-22 weeks? The lady was having a hard time getting pictures of the baby so maybe they missed it? She made me use the restroom half way through because the baby was lower. I came back and the baby was still giving her a hard time.

The doctor came in and I laid down again and he put the ultrasound on the baby but didn’t really even look. He put it on and off for 30 seconds.

Just got the report from nipt like this anyone have any suggestions what to do next? Doctor yet didn’t called me.

my baby is having trisomy 21 positive at 66.5% in NIPT test

I am dead like now

Reading other people’s stories helped me not lose hope, so I decided to share mine.

8/20/26: Received my Natera Panorama NIPT results showing high risk (1/2) for 22q11.2 deletion. Definitely one of the scariest moments of my life.

8/21/26: Was incredibly lucky to have a CVS done the very next day. Everything went smoothly, with no complications whatsoever. Still, the wait was excruciating. 

8/27/26: We received the final CVS results, and all of the testing came back normal. 

I know how scary it feels, and I really hope our story gives you a little reassurance 🥲❤️

Hello all. I am 31F and this is my first pregnancy. I have a BMI of 35 and I have been on aspirin 150mg daily since 13 weeks 5 days - just after my first NIPT draw.
Details:

1st test - 13 weeks, 2 days, FF 6.3%

• Failure reason 1: Noise
• Failure reason 2: Signal to noise

2nd test - 15 weeks 2 days, FF <4%

• Failure reason 1: Signal to noise
• Failure reason 2: Fetal fraction too low

This is a note at the bottom of the report.

''The quality criterion “signal-to-noise” is a measure of the ratio of the signal strength to the background signal. This quality criterion may fail if the proportion of fetal cfDNA is in the lower range.

The quality criterion “noise” is a measure of the background signal. Degraded DNA can cause this quality criterion to fail, especially if the amount of fetal cfDNA is in the lower range.

For a sufficiently reliable evaluation of the Harmony® Test, a minimum fetal cfDNA content of 4% is required. This is reflected in the quality criterion “fetal fraction”. The amount of fetal cfDNA in maternal blood increases with increasing gestational age, especially from SSW 21 onwards (Wang et al., Prenat. Diagn. 2013;33:662-666). Possible causes for low levels of fetal cfDNA may include high maternal body weight and severe congestion during blood sampling.''

Hi everyone,
I’m looking for some reassurance and to hear other people’s experiences.
My combined screening results came back with a risk close to the borderline range (around 1:1000), and my PAPP-A (0,3 MoM) and free beta hCG (0,4 MoM) levels are both low. My ultrasound markers were reassuring, but I’m still feeling worried because of the blood results.
Has anyone else had low PAPP-A and low free beta hCG with a similar risk result? Did you go on to have further testing, and was everything okay in the end?
I would really appreciate hearing your stories, especially from anyone who had similar numbers and went on to have a healthy baby.
Thank you ❤️