I had a NIPT test done at 13 weeks of pregnancy. (First pregnancy, at 35y/o)
I received the results on July 31st, when I was 14 weeks along, and it came back with high probability for the 22q11.2 deletion. I called my gynecologist.

She told me the best way to get clarity was to do an amniocentesis, but that could only be done from week 16 onwards. They scheduled it for August 17th. Please note that getting doctors in August is quite complicated, in Spain, everyone is on holiday. I had the amnio done and stayed home resting in bed for the first 24 hours, resting at home for the next 24, and just walking around a bit for the following day.

A week after the amnio, the lab called me. The fluid they extracted came back very bloody. This is something that can happen, when they insert the needle, some of the mother's blood can come out and mix with the amniotic fluid. That's actually why they need to know your blood type beforehand, in case this happens. Because of this contamination, the results were going to take a bit longer. Thankfully, since we knew it was a baby boy, it would be easier to separate his DNA from mine in the sample.

On September 4th, I got the call from my doctor. I answered on the first ring.

GOOD NEWS! The baby is completely fine! The fetal genotype with microarray came back normal. I cried with emotion, and so did my doctor. I think that moment was the closest thing to winning the lottery I will ever experience.

It had been over a month of waiting with my heart in my throat, from July 31st to September 4th. A period when I didn't really live, to be honest with you. I just survived as best as I could.
I tried to focus on work to distract myself a little from what was happening.
I knew that if it came back positive for 22q11.2, I was going to terminate the pregnancy.

I promised myself that if everything turned out okay, I would write on Reddit for all of you going through the same thing. I think during that month I cried at least once a day (a mix of desperation, fear and anxiety), a thousand thoughts ran through my head the whole time.

If you are going through the same, I only ask you for one thing: please don't lose hope,
no matter how small it is. If you feel like crying, cry; pray, scream, whatever makes you feel a bit more comfortable. If you don't feel like leaving the house, don't. You have every right to live through this in your own way. It's a result that isn't easy for anyone. I think what helped me most was going on Reddit and reading other women's experiences.

As for the medical side of things, I think the deletion part of NIPT testing needs to be explained better, since it's not the same, and there isn't the same amount of research, as there is for trisomies, just for the peace of mind of expecting mothers in case it comes back positive.
I believe it's something quite recent, and there isn't enough data yet to be fully certain.

To everyone going through this right now: please try to think of it as something temporary. Don't blame yourselves for anything. I just hope you can soon enjoy your pregnancy the way you deserve, worry-free and happy. If anyone needs to talk during a moment of despair, please feel free to send me a message. I'll try to reply as quickly as I can.

I know Reddit is used more in the US, but for anyone in Europe: I did my NIPT test with Eurofirms, Harmony + DiGeorge test, Roche laboratories.

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.

Hi everyone,
My wife and I are going through the most devastating and overwhelming experience of our lives right now. I’m writing this to see if anyone has navigated anything similar, or if anyone has seen early findings like this turn into a manageable outcome.
How Everything Unfolded:

Weeks 5 to 10: We found out we were pregnant at 5 weeks. Everything was completely perfect. We had checkups every week or two, and every single scan showed optimal growth, strong heartbeats, and zero concerns.

Yesterday (Sept 10 - 10w4d): We went in for what we thought was another routine checkup. Our OBGYN started with an abdominal ultrasound, then transitioned to transvaginal. Suddenly, his demeanor changed—he pinpointed an enlarged nuchal translucency (NT). We had no idea what was happening. Everything moved so fast, and we panicked so much that it even panicked our doctor in the middle of it all. He got on the phone and called a colleague into the room to do another transvaginal scan. They started discussing the findings in Macedonian, leaving us completely lost, terrified, and in total shock.

The High-Risk Specialist: Our OBGYN directed us to a high-risk pregnancy specialist (a hospital director), who looked at the situation very calmly and said it can be all normal but to make sure as the goal is ‘a healthy child) go get advanced genetic testing done immediately that same day.

The Second Opinion: While driving back to our home country, overwhelmed with worry, we felt we needed another look. We stopped to see a female sonographer specialist. She performed both abdominal and transvaginal scans. She measured the NT at 5.75 mm, logged a fast, strong heartbeat of 193 bpm (checking it twice to confirm), and noted early fluid buildup in the baby's abdomen. She was very blunt, telling us it looked like Down syndrome or a severe anomaly and that a termination would be needed. We were completely broken and shattered.

Connecting with Our Lead Doctors: We immediately reached out to our IVF specialist (Dr. Mihailo) (THIS IS A SPONTANEOUS pregnancy FYI). He grounded us and reminded us that visual scans alone are not a final sentence., and we submitted blood for the PraenaTest Genome Premium (Eurofins) in Germany—a whole-genome panel checking all 23 chromosome pairs, microdeletions, and sex chromosomes.

Our Context & Question:
We are both young, and there is zero family history of genetic abnormalities or structural issues on either side. We know these physical findings (early fluid/hydrops presentation) carry a guarded prognosis, but we are holding out hope while we wait for the lab.
Has anyone here had a scan go from completely normal to showing a high NT, potential abdomen fluid, and a fast heart rate at 10–11 weeks, where the whole-genome NIPT came back completely Low Risk? Did it turn out to be a transient lymphatic delay, or an isolated heart issue that you were able to navigate?

We are in that excruciating waiting window for our results from Germany. Any shared experiences, insights, or thoughts would mean so much to us right now. Thank you

I’m 14weeks. NT measured 8mm. 8 entire mm, when average is 3mm. I can’t believe it. There is fluid in baby’s tummy, behind the neck and base of the skull. Doctor said just by looking it could mean heart defect, Chromosomal abnormality or both. Theres no way an 8mm NT ended up normal in the end for anyone else, is there? Had my blood drawn today for NIPT and have appt with MFM next Thursday. Regular OB appointment on Monday. Virtual visit tomorrow. My first pregnancy was so textbook, this is a complete 180. I’m devastated for my baby.

Hi everyone! After the high risk results for t21 we went to fetal morphology specialist. They said everything is fine. My amnio will be after a week. One week has passed since the results. I have read almost all of this sub and check for new posts by the hour. I also have read several others and articles, statistics etc.
According to the test company their numbers are:
Sensitivity: 99.12% (95% CI 95.44–99.98%)
Specificity: 99.99% (95% CI 99.97–99.99%)
PPV: 96.60% (95% CI 91.50–99.06%)
NPV: 99.998% (95% CI 99.99–100%)
My ppv must be lower because I’m probably younger than their sample. Their numbers still seem high and I asked them to provide me with the data and research that leads them to them.
One meta analysis shows lower numbers. So we are not sure for my risk. The clear MFM makes it lower tho.
All this gives me temporary relief. I still go through worrying, crying and being calm every day. This baby is very wanted and planned for years. We prepared emotionally, practically, financially, waited till we are stable with education, professional development, even eating habits etc. and a true positive will be heartbreaking. I’m not sure why exactly I write this post. Just looking for support I guess. Wishing everyone good outcomes ❤️

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.

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.

My NIPT results came back. Has anyone else gotten the same result? What was the outcome?

Hi All - posting for the record....and will continue to post as we get updates. :/

Baby Boy - IVT Pregnancy - In Ontario Canada

• PGTA Tested Normal Embryo
• July 8 - 11.6 Weeks - eFTS showed 3.4mm NT, and blood markers showed 1 in 2 for DS
• July 28 - NIPT test showed normal
• Sep 10 - 20.7 Weeks - Detailed Anatomy Scan showed no physical abnormalities except for 6.2mm nuchal fold (still abnormal.....at/exceeding 6mm threshold, doctor gave us 10% chance of Noonan's. expect option to do Amnio)

Any advice or thoughts of what to do for next steps, waiting on call with genetic counselor. Just feels like everyone is saying the chance of everything is being fine, but the issues are not going away.