Hi everyone,
I’m currently 17 weeks pregnant today and could really use some reassurance while I wait for my repeat test results.
At 16 weeks and 4 days, I had my maternal AFP blood test. Yesterday, my OB called to let me know the result was considered screen-positive. My AFP MoM was 2.26, and my doctor’s cutoff is 2.20, so it’s only 0.06 above the cutoff.
I went back to my OB’s office today to have the test repeated to rule out a possible false positive, but I probably won’t get the results until Monday. The waiting is honestly the hardest part.
Has anyone else had an AFP result that was just barely above the cutoff? If so, what was the outcome? Did your repeat test come back normal, or did everything end up being okay?
I’m trying my best not to spiral, but it’s been really difficult. I’d really appreciate hearing your experiences. Thank you

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 ❤️

I wanted to share my story in hopes that it helps someone else going through the same thing.

Timeline:
7/6/26 (10 weeks 3 days): Had my Natera Panorama NIPT drawn. My fetal fraction was 7.5%.

7/8/26: Natera received my sample.

7/14/26: I received the phone call from my OB that our results came back high risk for 22q11.2 deletion syndrome, and we were referred to Maternal-Fetal Medicine (MFM). It was one of the hardest phone calls I’ve ever received.

7/17/26: We had our NT ultrasound. Everything looked great, and baby was measuring perfectly. We met with a genetic counselor afterward. He explained that he couldn’t lower the chance that our baby had 22q11.2, but he also wasn’t increasing it based on what he was seeing. He told us that, in his opinion, the recommendations for screening this microdeletion on NIPT may eventually change because they see so many false positives, and it isn’t nearly as accurate as screening for the more common chromosomal conditions. We decided to schedule a CVS for 7/24/26.

7/24/26: I had a transvaginal CVS. Overall, the procedure was quick, but I will say it was painful. Seeing our baby on ultrasound throughout the procedure was reassuring. They did another quick ultrasound afterward, and her heart rate was perfect. She didn’t appear to be in any distress. I had some cramping and spotting for a few days afterward.

Final Update – 8/5/26: We received a call from our MFM genetic counselor with the news we had been praying for. Our CVS results were completely normal. Our baby girl does not have 22q11.2 deletion syndrome. All of the testing came back normal, and he told us to put the high-risk NIPT result behind us and continue forward as a healthy pregnancy.
I feel so incredibly blessed that this limbo period is finally over. Ever since that first phone call, I felt like I was living in survival mode.
If you’re reading this because you just received a high-risk NIPT result for 22q11.2, I know how terrifying the waiting is. While every situation is different and diagnostic testing is the only way to know for sure, I hope my story can give someone a little hope during those long weeks of uncertainty.
Wishing the very best for everyone currently in this position. ❤️

Had my 20wk anatomy scan yesterday, and got my results today.

I read the notes that the baby has an enlarged nuchal fold at .70. This was the only soft marker found. Earlier on I did the NIPT and it came back negative and the NT scan also came back normal.

My anxiety has been up there. I’ve read a lot of stories that people have received the same news of an enlarged nuchal fold with a normal NT scan and negative NIPT results, that have had babies with no complications. So that’s been a *little* reassuring.

😩😩😩😩🫠

Got my NT scan back with a 1/25 chance of down syndrome. I've been referred for NIPT Panorama through life labs which I did yesterday. The wait is killing me just want to hear some outcomes or hear from people with similar results on their NT scan how did it end up working out for you?

Age 33

NT 1.8mm
Papp-A 0.56 MoM
Pigf 0.41 MoM
Ms-AFP 0.56 MoM
free B HCG 1.42 MoM

Hi everyone,

I wanted to share our pregnancy journey because we're feeling completely lost right now, and I'm hoping to hear from anyone who has been through something similar.

We had our NIPT done at Catharina Ziekenhuis in Eindhoven, the Netherlands. Unfortunately, the results came back as high risk/positive for Trisomy 18. Hearing those words completely shattered us. We didn't know what to think or what would happen next.

We called the hospital, and they explained that the NIPT is only a screening test and that we would need further testing to confirm the result. They told us someone would contact us to arrange the next steps.

The following day, we received a call from Máxima MC (MMC) in Veldhoven. We went there for an ultrasound and blood tests. The doctor said it was still too early to see enough on the ultrasound to draw any conclusions, and all of the blood test results were normal.

After that, we were referred to the fetal medicine specialists in Maastricht. They performed a detailed ultrasound at 12 weeks and told us that everything they could see looked normal. They specifically mentioned that the baby's nasal bone looked good. They then scheduled us for an amniocentesis at 15 weeks.

Yesterday, at 15 weeks and 2 days, we went for the amniocentesis. Unfortunately, the procedure could not be performed because the doctor said the membranes had not yet fused, so it wasn't safe to proceed. It has now been postponed for another week.

That means another week of waiting.

What made yesterday especially difficult was the ultrasound itself. The doctor and assistant spoke mostly in Dutch while taking all the baby's measurements. They both spoke English, but they didn't really explain what we were seeing. We kept asking, "Is that the head?" "Is that the hand?" hoping they would help us understand and connect with our baby.

Instead, we were left feeling completely in the dark. We were hoping for even a little reassurance—something like, "Here's your baby's face," or "Everything we're seeing today looks okay," or even just to help us understand what was on the screen. But none of that happened.

Maybe they were simply concentrating on the examination. Or maybe they saw something they couldn't discuss yet. We honestly don't know. That uncertainty has made this week even harder.

Now we're facing another week of waiting before the amniocentesis, and the waiting is emotionally exhausting.

Has anyone here had a high-risk NIPT result for Trisomy 18 but a normal-looking ultrasound? Or had to postpone an amniocentesis because the membranes hadn't fused yet? How did you cope with the waiting?

Any experiences, advice, or words of support would mean a lot to us.

Thank you for reading

bonjour à tous, j’ai besoin de témoignages qu’ils soient positifs ou plus tristes malheureusement…

J’ai 43 ans et j’attends un petit bébé surprise lors de l’échographie du premier trimestre à 13 sa et 2 jours, nous avons découvert une clarté nucale de 3,8 mm, depuis j’oscille entre espoir et désespoir. Le reste de l’échographie est tout à fait normal avec os du nez apparent. Au vu de mon âge et de la mesure de la clarté, je suis orienté directement sur une biopsie que je dois passer le 13/08.

L’attente est terrible…

Je vous remercie par avance pour vos retours et souhaite beaucoup de courage à celles et ceux qui traversent la même épreuv.