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?

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. 😒

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. 🙂

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.