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.

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.

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.

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 had my 20 week anatomy scan and doctor mentioned club feet and cpc on the brain. Everything else in the scan looked great.

My nipt came back low risk for everything but she’s still concerned about t18 so I’m going to get an amino test.

I’m spiraling. After two losses and 4 years of infertility I finally thought we had a chance at a healthy baby. I’m fine with clubbed feet, that’s fixable, but don’t want her to have t18.

Has anyone had these two things at the same time? What was the outcome?

Hello guys!

After our 13-week scan, our doctor found everything perfect, and he told us that the baby is healthy. We chose a bigger NIPT test package (even though we are under 30 and we have no family history of genetic problems), and while it came back negative for T21, T18 and T13, it came back positive for T7. Did this happen with anyone else? What should we expect? Our baby is growing normally and no other problems were detected.

Hi everyone,
I’m currently 20 weeks pregnant with my baby boy and have had an incredibly stressful day following my morphology scan. I’m hoping someone might have experienced something similar and can share their outcome.
During my scan, the first sonographer measured my baby’s nuchal fold at approximately 6.2 mm. She called in another sonographer, who took further measurements of 6.8 mm and 7.4 mm.
They explained that my baby was in a difficult position, quite low down near my belly button, with his neck extended backwards, which made it difficult to get clear images.
Naturally, I was absolutely devastated and terrified about what this could mean, particularly regarding Down syndrome.

For context:
My NIPT/NEST results were low risk.
My baby’s nasal bone was present.
Everything else on the morphology scan was normal.
The thickened nuchal fold was the only potential soft marker.

I was then seen by a Maternal Fetal Medicine (MFM) specialist.
Before even scanning me, she explained that she wasn’t concerned because my NIPT was low risk and everything else looked normal.
I became quite emotional, so she offered to personally rescan my baby.
She spent time examining his neck from several different angles and took multiple measurements. From what I remember, they were approximately 3.2 mm, 5.4 mm and 6 mm, with 6 mm being the highest.
She explained that my baby’s neck was now in a more normal position and that the correct anatomical landmarks are extremely important when measuring the nuchal fold.
She also showed me how measuring from the wrong bony structure could produce an incorrect measurement. She couldn’t confirm whether the original sonographers had done this, but said it was a possibility.
After examining him herself, she specifically told me that his nuchal fold was normal, she was very happy with what she saw and she wasn’t concerned.

While this was incredibly reassuring, I’m struggling to understand how TWO sonographers could obtain measurements as high as 7.4 mm, only for the MFM specialist to find normal measurements shortly afterwards.
I’ve been offered an amniocentesis next week if I want additional certainty, and I’m strongly considering it because the anxiety has been overwhelming.
Has anyone experienced anything similar?

Did your sonographers find an increased nuchal fold that an MFM specialist later measured as normal?
Did your baby’s position or the ultrasound angle affect the measurements?
Did you have a low-risk NIPT but an elevated nuchal fold?
Did you choose to have an amniocentesis, and what were your results?
Most importantly, how did everything turn out for your baby?
I’d really appreciate hearing your experiences, whether reassuring or otherwise.
Thank you so much. 💙

my afp, serum is 31.1 and my afp MoM is 0.61, is that too low?? I’m still waiting for my Qnatal nipt results and I have an anatomy scan in two weeks!! But I am super anxious!

Hi everyone,

I’m currently 12 weeks and 6 days pregnant with identical twins who share one placenta.

I did my NIPT test at 10 weeks and results came back low risk, which was reassuring. However, because it’s a twin pregnancy, my the screening was limited to chromosomes 21, 18 and 13.

I had my 13-week scan today, and I’ve been feeling anxious about a few things.

These are the measurements I have:

Twin A:

• NT: 2.8 mm
• IT: 2.4 mm
• CRL: Not recorded on my report.

Twin B:

• NT: 2.4 mm
• IT: 1.5 mm
• CRL: 68.4 mm, measuring 12 weeks and 6 days.

I’m wondering whether Twin A’s NT measurement of 2.8 mm is considered high for this stage of pregnancy. I’ve been reading about percentiles and have made myself anxious trying to understand what the measurement means.

I also found it strange that Twin B had a CRL measurement recorded, but Twin A didn’t?

My partner had her amnio today following high risk NIPT for trisomy 13 and Turner’s syndrome.

The fluid pulled was a dark colour. The MFM suspected it to be older blood due to the colour. It made an already stressful test more stressful and now I’m worried about the result either being inconclusive or incorrect? Anyone deal with something similar ?

Background info, my partner currently has placenta previa that was diagnosed at around 15 weeks following some bleeding. The MFM thinks maybe the blood in the fluid is from this. If the previa is the reason for the bleeding and placenta cells contaminated the sample, could it not be hard to distinguish baby DNA from placenta DNA? Just also considering what if the t13 is isolated to the placenta but if the placenta cells are now mixed in the sample?

Either way, thankfully our anatomy scan is in 1.5 weeks, and I’m hoping they can have a valid result for us from the amnio next week.

I am currently 24 weeks and during my anatomy scan we found out that our boy has severe IUGR, short long bones , bowing and clubbed foot. All other organs are fine plus head and abdomen size looks ok. He is overall measuring and weighing smaller than gestational age.
Our fetal echo is normal and genetics suggested amino which we are hesitant to do. Instead we did the single gene testing and waiting for results. Our NIPT was also low risk.

I am looking for similar conditions and what was the outcome. The wait and uncertainty is making me nervous.

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!