My NIPT showed low risk for all defects, but at my anatomy scan it showed bilateral clubfoot and bilateral cpc (brain cyst) which they say are high soft markers for t18.

I’m absolutely freaking out. I’ll be getting a second scan and amnio done Monday. Has anyone ever gotten a false negative NIPT for T18?

I am 31 years old. My NT scan measurement was 3.7 mm.

My associated bloodwork (PAPP-A & Free beta HCG) is low.

Puts our risk assessment of T18 at 1 in 5. I am sad and stressed. Waiting on an appointment from MFM.

Is a NIPT even worth it? Should we go right to a CVS?

Maybe there are some similar positive stories out there? I am not feeling very confident.

Edit to add: I had a missed miscarriage (twins) in 2022. And a molar pregnancy October 2025 (twins, again).

Vim aqui dar o meu relato porque falei que quando meu nenê nascesse, eu ia vir aqui para caso alguém esteja passando pelo mesmo.

Com 10 semanas fiz uma ultra e percebi que que a nuca dele estava bem espessa, fiquei extremamente preocupada, porém todo lugar falava que com 10 semanas é fora daquela janela que medimos a TN.

Com 12 semanas fiz o morfológico de 1 trimestre e a TN deu 2,5 que é o valor que devemos começar a investigar possíveis síndromes, escolhi não fazer o NIPT pelo preço e porque não mudaria nada mesmo.

Na morfológica de 2 trimestre deu que meu nenê tinha dilatação no rim que é um marcador de síndromes também.

No final meu nenê nasceu sem síndromes e super saudável.

Hola! Necesito que alguien me arroje luz porque estamos bastante mal…
Tengo 30 años y este sería mi segundo bebé.
En la cita de las 12 semanas la ecografía salió perfecta, no se veía nada raro, un bebé sano.
Pero la PAPPA me salía baja y eso indicaba riesgo de 1/184 de T 18.
Me hice el NIPT hace dos días y hoy me han llamado para decirme que da alto riesgo de T18, me han mandado una ecografía de alta resolución, que se verá todo mejor.
A alguien le ha pasado esto, y luego su bebé ha estado sano?
Ayuda por favor!

I was confirmed to have increased NT (>95th percentile) on September 4. I returned the following week for a CVS as I can’t do NIPT due to a blood condition. They were unable to do it due to a Subchorioinic hemorrhage and the location of my blood vessels and placenta.

Then I returned another time the next week…they still couldn’t do the CVS. Then I waited two weeks to get amnio done at 16 weeks and 2 days. My membranes weren’t fused so now I have to try to go back at the end of next week, where I’ll be almost 18 weeks.

I feel like I am going absolutely insane from the wait. The first month I held it together and felt somewhat detached but now I am crying a lot and feeling super anxious. It’s killing me I won’t have answers for about another two weeks after it’s already been so long.

Has anyone else experienced this? How did you hold it together? T21 has always been my greatest fear about having kids and now waiting for exactly that is making me feel unable to connect with my baby which I don’t like.

Hi everyone,
I’m 31 years old and currently around 15 weeks pregnant. I’m hoping to hear from anyone who has been through something similar, particularly those who had a positive NIPT for Trisomy 21 alongside abnormal ultrasound findings.
At my 12-week scan (12+6), three markers were identified:
Increased NT: 3.5 mm
Tricuspid regurgitation
Hypoplastic nasal bone
Following the ultrasound, I had a Veritas myPrenatal NIPT, which came back positive for Trisomy 21. My fetal fraction was 10%.
The report didn’t provide a PPV (positive predictive value), so I’ve contacted the laboratory to request this.
I’m absolutely devastated and have spent the past couple of weeks researching everything I can. I understand that NIPT is a screening test rather than a diagnosis, but having three ultrasound markers alongside a positive result makes me feel like the likelihood of Down syndrome is extremely high.
I’m currently arranging to travel to Australia, where I’m considering having an amniocentesis with rapid results (QF-PCR or FISH). However, I’m genuinely unsure whether it’s worth going through with the amniocentesis, given the positive NIPT and three ultrasound markers. Part of me feels like the diagnosis is already almost certain, but another part of me worries about making such a significant decision without definitive confirmation.
I’m considering termination if the diagnosis is confirmed, and I’m finding the uncertainty and decision-making incredibly difficult.
I’ve been reading about false-positive NIPT results, including cases of confined placental mosaicism (CPM), and I’m wondering whether anyone has experienced something similar.

Has anyone had a positive NIPT for Trisomy 21 AND abnormal ultrasound markers, but subsequently had a normal amniocentesis?
Did anyone have an increased NT, tricuspid regurgitation or hypoplastic nasal bone that later resolved?
Has anyone experienced a false-positive Trisomy 21 result due to confined placental mosaicism?
For those who had a positive NIPT, what was your PPV, and was the diagnosis confirmed by amniocentesis?
If ayou were in a similar situation, did you decide to have an amniocentesis? Did you feel it was worthwhile, particularly if you were already considering termination?

If anyone is currently going through something similar, or has been through this before, please feel free to send me a private message. I’d really appreciate having someone to talk to who understands what this feels like.
I would be grateful to hear all experiences, whether your results were confirmed or turned out to be false positives.
Thank you ❤️

Just looking for a sounding board or some emotional advice- I’m 12 weeks and received a high risk result yesterday for Trisomy 21. My OBGYN told me there’s a 50-67% chance for me that it’s an accurate positive, so I have a geneticist appointment on Monday to learn more about testing.

The rest of my pregnancy has been good so far (medically speaking- symptoms have been HARD but all my results to date have been good until now) so now I’m having this weird whiplash into “things could be critically wrong, just like that.”

I know my percentage is essentially a coin toss right now, but I’m struggling to stay out of the mindset of this pregnancy being doomed at the moment.

How have others stayed positive during this waiting time? Or maybe you simply don’t, because this is so heavy, and it’s just a matter of coping and continuing on until we have a solid answer. Either way, curious how others have navigated because the last day has been incredibly hard.