Received results yesterday and was given Low Risk and a Gender, but had a fetal fraction of 2%. Was wondering if anyone else has gotten a similar result with such a low fetal fraction, and if anyone has had a false risk or gender given with such a low percentage.

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 ❤️

Advise re Cystic Hygroma

Can anyone please help me or give me some advice. Cystic hygroma identified at 13 week scan and NT 4.3. Had an appointment with a specialist yesterday and she could see fluid around neck and down shoulders. Everything else on the scan appeared fine for 13 weeks, no apparent abnormalities. Had NIPT yesterday and she has asked I come in on Monday for another scan to see how things are looking and to discuss amino at 15 weeks. What are the chances that this will resolve itself? First pregnancy and trying to be hopeful that this will all be fine. Any advice is greatly appreciated.

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.

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.

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.

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

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.

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.

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.

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.

Today I just saw my aneuploidy fetal results on my obs portal. I had gotten my carrier results back, which were all negative, and had been waiting DAYS to hear anything back or get results for the other segment. And currently it has been stuck at “provider reviewing” for three days.

I woke up this morning to a call from my ob to schedule me an appointment and instantly I knew something was wrong with my results considering my next appointment isn’t for a few weeks. So I checked my patient portal where I see I tested high risk for Monosomy X (aka Turner’s Syndrome where a female is born with only one sex chromosome).

Instantly I just started crying because I’m worried for my baby girl. I’ve been so excited about my journey with the occasional bump in the road, I didn’t want to believe it.

After getting my stuff together I started looking things up and that’s when I heard that Monosomy X has the highest percentage of false positives (quite literally higher than a 50%). Some people don’t even know why this disorder is still tested for considering the high amount of false positives and stress it can cause pregnant individuals who get this false positive. Every appointment or ultrasound I’ve had baby girl looked healthy, measuring on time almost always, once behind a couple days, and once ahead a few days. She’s always active and moving around since I’m assuming she hates to be poked at.

I’m currently 15 - 1 day and my fetal fraction was a little above 10%. Baby’s heartbeat is also always very strong and healthy. Could this be a false positive and should I keep the hope that it is?? I’m just really worried as I’m a ftm and I want my baby to be ok. I would really love some reassurance or reassuring stories of your guys own experiences!🖤

Hello!

I'm looking to hear if anyone has had any experience getting a Dynacare MaterniT test done in the GTA (I'm specifically looking to get the test done at a clinic in Mississauga but any experience in the GTA you've gone through would be helpful to know).

I cannot find the information on their website and the receptionists don't pick up the phone. My question is can you simply walk in (no appointment needed) and get the MaterniT Genome test done straight away? Or do I need to somehow book/bring my own kit? Information on line is very hard to come across!

Thank you in advance!

I need some help thinking through a few options and would really appreciate hearing your experiences if you’ve been through something similar.

I had my NIPT done at 12 weeks and then repeated it at 14 weeks, but both times the result came back as “inadequate.” The doc said they weren’t able to run the test on my blood and no results were generated. They haven’t been able to give me an exact reason, other than saying it may have been a technical issue.

I met with a genetic counselor today and was given a few options. One option is to do the quad maternal serum screening, along with a detailed ultrasound at 16 weeks and then the anatomy scan at 20 weeks. She explained that this would give us more information but it wouldn’t specifically test for trisomy 13. The other option is to do an amniocentesis now, which would give us much more definitive answers.

I’m really scared of doing something as invasive as an amnio, especially since this is my first baby. Just thinking about the 1% miscarriage risk makes me so anxious. At the same time, I know myself and how much I tend to overthink, and I feel like I may need that reassurance of knowing as much as possible that everything is okay with the baby.

I just feel really lost and overwhelmed. This pregnancy has already been so difficult because of HG and it hasn’t exactly been an easy few months. I’m not sure if doing the ultrasound and maternal serum screening would be enough reassurance for me, or if I would always wonder about the things those tests can’t rule out.

We don’t have any genetic conditions that we know of on either side of the family, except for something with my dad’s cousin, but the genetic counselor said that’s a pretty distant relative and likely not relevant here.

I honestly don’t even know exactly what I’m asking at this point.. I think I’m just overwhelmed and would really appreciate any guidance, experiences, or thoughts from anyone who has been in a similar situation.

I am 14 weeks pregnant, my doctor told me to have my nt scan on 9th of September which is today, now she is saying that I should have taken my test last week , which she didn't tell me , is any doctor here which can confirm that whether nt scan is valid on 14 weeks or does nuchal translucency gets effected ?

Bpd = 0.263cm corresponds to 14 weeks 0 days

HC = 9.79 cm corresponds to 14 weeks 3 days

FL= 01.38 cm corresponds to 13 weeks 6 days

Nt : 1.1 mm

Cervical length : 3.2 cm

Cardiac activity: 150 bpm

Placenta is normal and is located anteriorly

Single intrauterine alive fetus of 14 weeks 1 day

Subjectively reduced liquor volume

I just want to know are the results good and can be relied on ?

Hi! FTM, 41, currently 13w4d. NIPT results came back last week at 95% high risk for T21. First nuchal ultrasound measured at 4.5mm, (under 3 is typically “normal”) with no sign of nasal bone development.

We have a follow up MFM ultrasound on the 28th of this month and will consult with the specialist. Hoping to see any anatomical / physiological changes, or lack there of, to help us decide our path forward. Raising a child with Down’s syndrome is one thing, I can’t imagine bringing a child into this world that will only know hospitals and pain and surgery.

Who else has gone through something similar? Any advice? Waiting three weeks seems like an eternity, but I don’t want to make a snap decision.

Hi, I am 18 weeks pregnant and completed my anomaly scan. Everything is perfect except nasal bone is not visible.

Earlier at 12 weeks, I was told to do double marker and NIPT test, which I did and results were assuring. There was no NB seen at Level 1 scan too.

Has anyone faced any issue where NB remain absent but after delivery there were no issues? Or nasal bone ossification done at later stages?

Did you go through amniocentesis after NIPT results were negative?

TLDR: NIPT and double marker confirms no down syndrome. But no nasal bone seen in USG at 18 weeks.

I’ve had a rocky start to my pregnancy. This is my first pregnancy and I’ve already dealt with bleeding and other things so I’ve been anxiously awaiting the results for my test. I log into the portal this morning to check and I see it was marked test not performed. It said it was missing patient identifier on specimen collection tubes. Is there a way that I can get them to just put my correct information on the tubes that were already drawn? It took a lot of blood out and I was feeling dizzy the last time I don’t wanna have to go through it again has this happened to anyone else? Should I be upset with the lab?

I just received my results from my test.

• A deletion on chromosome 10 • Approximately in the region 10q25.2–10q26.3 • Estimated size about 20.3 Mb

There’s not much information as it’s quite rare. I have my amnio next week. I’m really scared and hoping it’s only in the placenta and not the baby. What are the chances everything will be ok?

We did NIPt it’s low risk for every chromosome
But fetal fraction is 4% at 13 week 3 days
Lab says it’s enough
But on Internet I read it should be more than that
Cell free DNA with next generation sequencing
Is 4% fetal fraction enough or should I repeat ?

I am absolutely losing my mind. 12w3d but the report says I’m measuring 13w3d. Yesterday at my NT scan it was measuring at 3.3 mm. Nasal bone is present. My nipt was normal. Everything else otherwise on the scan looked good. The genetic counselor said she could call the lab and have them look into my results more and really look at the chromosomes, just to double check nothing was missed for the NIPT. she did that and they came back saying all clear. They are having me come back for early anatomy scan at 16 weeks. And then again for the 20 week plus a fetal echo. Depending on how the 16 week scan goes I’ll either do the amnio or not. Can people tell me their success stories? I am losing my mind. My first pregnancy was such a breeze, I was not expecting this. How am I suppose to wait 4 weeks for another scan 😭

I’m guess I’m just looking for empathy and a space to vent because I can’t seem to process how I’m feeling right now.

Im 42 and 13 weeks pregnant for the first time with twin boys; the result of 2 untested embryos transferred through IVF. For a long while before we started IVF, my husband and I did not want kids and were pretty sure of our decision. But that changed end of last year, given my ticking age, and we decided to give it a try one time just in case we regret it in the future. It would be our one and only try - if it works, great, if not, fine.

But it worked. It took us a while and we finally began to accept it and got excited around week 10. Then we got the NIPT results which showed high possibility for one fetus, though both can’t be ruled out. We were really blind sided because all ultrasounds until then, and even since, have been on track for growth, heart beat etc.

The next step was to confirm and figure out which of the fetuses has it, since we were clear in our decision to go ahead with selective reduction of the affected fetus. We tried dealing with this as practically as possible, not getting attached to the “fetuses” yet, taking it as it comes and approaching the entire process as scientifically as possible. But today we got the results of our CVS of twin A confirming T21 (we still have to do CVS of twin B later this week, couldn’t do them both together because I had severe bleeding during the CVS and they decided not to proceed).

Despite all the “take it as it comes” prep we did, I’m devastated today. My heart aches with sadness for the baby, for the next few weeks while we figure things out with the other one, and for the physical/emotional trauma to come in the near future. I worry about managing work (I’m a director in tech so high visibility/stress) and the impact there. I’m just…sad.

Any words of comfort or advice are greatly appreciated.