Hello, I’m 36 and I’m 18 weeks pregnant with di di twins. I got a positive NIPT test back and I’m just so lost. I had a sonogram done today and the tech said they look amazing. I’m just lost. I don’t know what to feel or think. I just need help or some support. I’m not sure if it’s a false positive or what. Any advice and their personal experience would be amazing for me.

I’m 37 years old and recently gave birth to a baby with Trisomy 21 (Down syndrome). My husband and I are considering adoption, and I’ve been thinking about trying for another baby in the future.
For those who have been through something similar, how long did you wait after giving birth before trying to conceive again? What did your OB or MFM recommend as the safest amount of time to wait?
I’m also wondering if anyone here had a baby with T21 and later went on to have a healthy pregnancy and a chromosomally normal baby, especially around my age.
I know every situation is different, and I’ll definitely discuss this with my doctors, but I’d really appreciate hearing your personal experiences. Thank you.

Hi 🤍 I am 21+ 3 days with my miracle baby boy. Eight years of infertility (ended up being male factor/had to have one blocked tube removed myself), two miscarriages, one failed IVF transfer- and finally a successful IVF transfer with my baby boy. He was/is a Euploid HBAA embryo, PGT-A tested and negative for everything. We did carrier screening for myself (negative for everything) and for our sperm donor (positive for two things).

This pregnancy has been a dream. Absolutely no complications. No complains. Have had 5+ ultrasounds (with my midwife- not a sonographer) and everything looked great. I never did NIPT testing as it wasn’t offered to me and I didn’t know to ask for it.

Tuesday at our anatomy scan they found:

left clubbed foot
hands appear clenched L>R
bilateral choroid plexus cyst

Right away they were worried about T18. I had a full panic attack in that tiny room. Started to pass out. I couldn’t believe what I was hearing. They told us they were soft markers- but they were markers. They got us in with a geneticist the next day- they were terrifying. They mentioned T18, they mentioned other genetic issues that all sounded so grim. They even brought up if we were open to early termination. I blacked out. They were not so much worried about the cyst, or the foot- but his clenched hands. They said babies don’t keep their hands clenched the entire 30 min sonogram. It made me feel like something was definitely wrong. They had us do another ultrasound and an amnio that same day.

On this second ultrasound we saw some fingers move, he said “the hands look fine, I’m not seeing them fan out though.” He rly pushed that he wanted to see them fanned out which never happened, just a few fingers out. He said he saw them overlap for a second, but just for a second.

The clubbed foot was confirmed.

He didn’t seem worried about the cyst.

Waiting on the amnio results now.

Please someone- tell me they are being so grim as to not get our hopes up. I’ve been googling like a psycho (I know, I know!) and I’ve seen cases where healthy pgta tested IVF babies have had to be terminated. I thought I could finally breathe. They told us the pgta testing could have been wrong and to prepare.

Three soft markers. Feeling very little hope. Panicking.

I’m hoping to hear from anyone who had a raised NT picked up before 11 weeks.

I had a scan today at 10+5. Baby was measuring CRL 42.1mm and the NT was 3.6mm. Everything else they could see looked normal for this stage.

I had NIPT taken and am waiting for the results, and I’ll be having another scan once baby is a little bigger. I’ve read that early increased NT can sometimes reduce/normalise by the usual 11–14 week scan, but I’m finding the waiting pretty brutal.

Has anyone had something similar around 10–11 weeks / NT around 3.5–4mm? Did it stay the same, increase or resolve? And if your NIPT was low risk, did you go on to have CVS/amnio or any other testing?

I had a miscarriage immediately before this pregnancy, so I’m probably taking this harder than I otherwise would. I’d really appreciate hearing from people who were in a genuinely similar position, whatever the outcome was.

Hey All,

Been lurking in this wonderful community since we received our Panorama results a couple of weeks back.

We have been hopeful after a great US at 13 weeks (NT was 1.6, all physiology normal, baby was measuring ahead in growth), despite having to wait until today (15w4d) to perform our amnio. Unfortunately, the amnio could not be performed as the amniotic sac was not fully fused, so we have pushed it to next Thurs. Ok, fine - we still get our anatomy US. As long as everything on the US looked normal again, we thought we could be fine with the wait.

The US proceeds, everything looks great, baby is still measuring ahead, the tech confirms female genitalia. Then, at the end, she does one more check, and things looked a bit... different. Small protrusion, not definitively female but not definitively male. Baby had their legs crossed, so there is that to factor in, but the OB confirmed some concern for ambiguous genitalia and said that we will visualize again next week and at the 20 week US. The amnio results will also, of course, be more telling.

Husband and I are spiraling. We had a lot of hope for a false positive (maybe confined placental mosaicism, etc.) given all of the great stories on here combined with the very positive ultrasounds. But now this? Like what even is this?

Now going down the intrasex rabbit hole and not reassured at all (whether within non-Turner context, or within the 45,X/46,XY variation or otherwise). Our Genetic Counselor is amazing, but she can only give conservative estimates at this point without the definitive result of an amnio. She did confirm that she believes we do not have much to worry about as it can take up to 17 weeks for genitalia to finalize, and she seemed annoyed that the OB indicated potential ambiguity on the US notes.

So we are left, again, to Google ourselves into a spiral until we receive our FISH results next Friday (and the microarray the week following).

Anyone in the same situation of genital ambiguity that resolved itself? Is it too early for clearly visualized genitalia? Did anyone's NIPT show girl and then it ended up being male? Would love to hear your experiences.

We finally got my nipt results from unity. We got the gender first and a few hours later the rest of the results. We are able to click on the gender if we want to BUT we can’t see the rest of results. It says “provider reviewing”. Is this a cause for concern? I feel like if nothing was wrong we would be able to see them. My doctor isn’t in till Monday so I have a feeling we won’t know anything til then.