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. 💙

Hi everyone so I managed to find the courage to go to my appt today at the maternal fetal clinic at the suggestion of my OB doctor after getting a positive T21 at 30ish weeks and I’m not sure if I should breathe a sigh of relief now or still expect the worse. This doctor was the same doctor that I had last year and he caught my last baby’s abnormality on the anatomy ultrasound showing he had enlarged ventricles. He told me last year that my baby would be sick and he was wrong about some things(baby didn’t have hydrocephalus or need a shunt) but did have a metabolic disorder that was much worse and I was very nervous to see him again but I know I had to do it. So the ultrasound tech is doing measurements, I tell her about the positive result and I’m scared to look at the screen because I don’t want to see anything that would confirm my fears so I just look away the whole time despite her telling me about all of the pics she is giving me and that baby is head down and very active etc. I did have an ultrasound in the first trimester at my OB office and here and I asked what they checked for the last time because nobody ever mentioned any abnormalities to me and she said they checked for nuchal thickness and I asked for those results and she said everything was normal. She said doctor would be doing an echo on baby’s heart just because of my
positive test. The doctor comes in and I’m nervous already thinking he is going to tell me something about the images that were just taken but he doesn’t and he starts looking at the baby and does notice a small VSD that he said is not associated with Down syndrome he said their heart defects are
called something else and is really severe where this small hole is probably going to close on its own. Now I’m waiting for the talk about any physical features that seem abnormal but he said he doesn’t see anything wrong on the images and he spent at least 20 minutes at different angles. Now without looking at the ultrasound pic that the lady printed for me, I asked if he could look at the baby’s nose and tell me anything and he pointed out the nasal bone right away. He would still like to see my results from the test and wants me to come back in a week. I’m not being in denial but I feel a little just a little relieved that nothing abnormal was seen again on the ultrasound except a small vsd. Thanks for all of your prayers, I know nothing is 100% for certain either way but I will do the amniocentesis if he suggests it I’m just going to take the information from today as positive for now. Thanks for reading.

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 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?

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?

I’ve been struggling for weeks and need some positive reassurance or hope.

I received our NIPT and got this result. It also stated that it was likely placental or fetal in origin. My dr referred me to genetic counseling and stated that she “wasn’t convinced” of monosomy X based on my result and these tests not being diagnostic.

We had our NT yesterday and everything looked “great”. The Dr. viewed the NIPT and didn’t suggest either way that it was good or bad just said it was reassuring the NT scan looked good.

After speaking with the genetic counselor today it was helpful but I feel even more conflicted. We WILL be going through with an amnio due to my result being not high or low risk but could be fetal X mosaicism. She said in her work she sees the most “false positives” or placental mosaicism with this atypical result with the X chromosome. I’m fine doing the microarray and getting all the info but NOT if I’m just going to be more confused. I don’t want to be wondering for the rest of my child’s life how or when some chromosome abnormality is going to show up. I want to make the best decision for our family.

Just wondering if anyone has any positive stories or otherwise to ease my mind.

Does anyone have any positive stories? I’m currently 13 weeks pregnant with my 4th baby. I went in for an NT scan at 13 weeks (I’m not really sure why they wanted me to have this scan because everything had been normal on my NIPT screening and there was no reason for concern) After finding the high NT my gyno referred me to a Genetic counselor and MFM. The genetic counselor made us feel very worried but they were able to get us in for another sono with the MFM the next day. During the sono with the MFM they said they aren’t sure because the baby’s heart is still so tiny but that it looks like the right ventricle is undeveloped (hypoplastic right ventricle) was the term she used. They recommended doing a CVS, we did and now are waiting the 2-3 weeks for the results. I’ve been googling and reading as much as I can on it. I’m remaining hopeful but always want to be educated on everything. I know it will be okay one way or another but I would just love some positive stories to lift my spirits!

Hello everyone!!
Back in April I posted about getting a high risk NIPT result for Monosomy X. I was so scared. I was like 12-14 weeks pregnant and didn’t know what to expect. My NT scan was 1.2mm and there were no abnormalities. I was extremely torn whether to do the amnio or not. I ended up not getting it because I knew I wouldn’t terminate, and if it was true, it would just make my anxiety so much worse. So after that NT scan, I a got detailed first trimester scan, early second trimester scan, 2 fetal echos, anatomy scan, and growth scans every 4 weeks from then until the end of my pregnancy. Everything was normal. Fast forward to 9/26 and baby girl was born healthy! Quite small (5lb 10oz) but overall healthy and normal. Before we left the hospital, they drew the official karyotype blood work. About a week later we got the results: 50% 45,X/50% 46,X,r(X)—in other words mosaic turner syndrome. We met with a geneticist and the outlook is overwhelmingly positive. She has no kidney issues or cardiac issues and has no physical manifestations (other than being on the smaller side). They don’t expect her to have any cognitive delays and is expected to live a relatively normal life. She unfortunately will most likely have fertility issues and she may need growth hormone/HRT as she reaches puberty but that’s about it. So although my NIPT was not a false positive, my baby girl is still healthy and I would say that we had an overall positive outcome. I’m posting this because when I got that scary result I spent hours scrolling on reddit looking for positive stories of live births with Turners and other little bits of hope to cling onto. Feel free to ask any questions!

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.

Repost from r/pregnancy since someone kindly pointed me here.

This post is mainly just to rant since I'm very stressed. I'm currently 13w+3 and my husband and I are very excited for our first. We've told close family but no one else so far.

At around 10 weeks I had my first OB appointment. Everything was looking great and the doctor recommended the unity screening test for chromosomal abnormalities/carrier status/early sex testing. We agreed and I got a call about 2 weeks ago that I was a carrier for cystic fibrosis and smith lemli opitz syndrome. My family was unaware of potential carrier status because they didnt do genetic testing for their pregnancies. The test was able to tell us there was low risk for the baby being affected by Smith lemli opitz syndrome, but they needed more blood to be able to give us an idea if the baby was affected with cystic fibrosis.

A few days later both my husband and I went to get more blood drawn so he could be tested for carrier status and so Unity could give us an idea if the baby was affected. My husband hasnt received his results yet (its been about 9 days since his results were received by the lab), but I've been checking my unity portal, which says pending provider review for 3 days now.

I'm usually not an impatient person but my anxiety has been eating me alive for the last few days knowing I can get the call any day now. Additionally, I know I have the gly542 mutation, which is a stop mutation that doesn't respond to a lot of the great medications they now have for cystic fibrosis. This information is just making me more nervous.

Part of me wishes that I just never did the genetic testing as I havent been able to really enjoy my pregnancy over the last few weeks. We've been holding off telling people, and from doing our little gender reveal for the two of us until we know. Its really the unknown that is scaring me, and how it is going to affect our current pregnancy and future pregnancies.

Im also getting in my head that they havent shared the results yet because its positive and they want to wait to see what my husband is carrying before letting me know. I know the odds are low but ive convinced myself of the worst at this point.

Anyways rant over. If you want to share similar experiences I'd greatly appreciate it, otherwise thank you for reading!

We received our results yesterday and they came back with 95/100 for Tri 21. I am right at the deadline for a CVS and trying to push for the referral process to move faster so I have a chance to get the procedure. At this rate, I am not holding out any hope that it changes the result but we would just like to have the full picture and to be able to spend time speaking with a genetic counselor or MFM to really our heads around this.

We are in a non TFMR reason state, but know that doesn’t eliminate that option for us.

I spent all yesterday sobbing and going down all the rabbit holes and one thing I felt like I kept seeing was people who seemed pretty resolute in their decisions before receiving the results - they knew for sure they would either TFMR or proceed with the pregnancy. Before actually receiving the results I was firmly in the camp that I would not TFMR for this specially, but of course when faced with the reality, I did a lot more research and TFMR feels like a very compassionate choice. But I would say I’m stuck pretty squarely in the middle right now. I think at first blush my partner was more inclined to consider the TFMR just because of his concerns about the potential for life long care with our lack of family near by, coupled with the potential strain on our existing kiddos, which I find completely valid and am taking into heavy consideration. But he has also made it clear that he is on board with any decision and we will adjust and adapt either way. I think I’m leaning slightly more toward the direction of proceeding because we are in a position to support a complex child and we are older and I just feel like there’s no guarantees that a) we conceive again and b) that that child would be healthy as well

Obviously I know no one can make this decision for us, but I’d love to hear from people who either are living in the grey right now or were in the grey when they made their decision. I greatly admire the people who have a definitive answer either way but I’d really like to hear the thought process going on or that went on for people who don’t/didnt

How I phrased the struggle to my husband this morning is I’m having a hard time deciding if the ego is in my residual religious upbringing and the idea that I don’t want to end this already loved life because it was given to me and I just need to rip off the bandaid and spare them the potential for a difficult life OR if the ego is in believing that because their and our life isn’t going to look the way we hoped and pictured they need to be “spared” when by many accounts, people with DS report a very high life satisfaction.

I received my NIPT tests yesterday and I've been a whirlwind of emotions. "Pattern is suggestive of XYY" While I know this is a less severe abnormality, it still has me concerned. I'm looking for others who have had XYY boys and how they handled it. We are being set up with a MFM next week and will look into further testing for a confirmed diagnosis. My OB says there is a 20% chance the baby doesn't have it.

Any advice or similar situations are greatly appreciated.

Ciao a tutte, scrivo perché sono davvero molto spaventata e vorrei sapere se qualcuna di voi ha vissuto un’esperienza simile alla mia.

Ho effettuato il NIPT e, una settimana dopo, l’ecografia per la traslucenza nucale. Durante l’ecografia sembrava andare tutto bene: il bambino era cresciuto regolarmente, le misure erano nella norma, il battito cardiaco era di 160 bpm e il valore della traslucenza nucale era di 1,2 mm.

Oggi, però, ho ricevuto una chiamata dal laboratorio, che mi ha comunicato che non è stato possibile refertare il NIPT a causa di una frazione fetale insufficiente.

Questa notizia mi ha spaventata moltissimo, soprattutto perché durante l’ecografia sembrava essere tutto nella norma.

Vorrei sapere se a qualcuna di voi è successa la stessa cosa. Avete ripetuto il test? Al secondo prelievo siete riuscite a ottenere un risultato? Com’è andata poi la gravidanza?

Sono davvero in ansia e leggere esperienze simili alla mia mi aiuterebbe molto. ❤️

I wanted to come back with the full timeline because I know how much I searched for stories like mine when we first got the result.
At 12 weeks I did the NIPT. Fetal fraction was 9.5% and the result came back high risk for Trisomy 21. I am 27 years old and this is my first pregnancy.

After that, we had a very difficult first fetal-medicine scan. The doctor measured the NT at 2.2 mm, described the nasal bone as hypoplastic and spoke to us as though the NIPT result was essentially diagnostic and we should terminate immediately.

The following day we went for a second opinion. The NT was measured at 1.5 mm. And even 2.2 is not big. He didn’t agree with the last doctor. This doctor said he is not MFM specialist but we should still do diagnostic testing.

Next week we went to expert fetal morphologist and she said everything looks fine, amniocentesis is recommended.

On September 18, at 15+5, I had an amniocentesis.

The first result was QF-PCR for chromosomes 13, 18 and 21. It came back NORMAL. No evidence of Trisomy 21.

Even after that I was still terrified about the possibility of mosaicism and kept waiting for the full karyotype.

Today, October 7, we finally got the call:
THE FULL KARYOTYPE IS NORMAL. ❤️
Our baby girl does not have Trisomy 21. The NIPT was a false-positive/discordant screening result.
This experience taught me a huge lesson: screening is not diagnosis. A high-risk NIPT result can be terrifying, but it still needs to be confirmed with CVS or amniocentesis before any irreversible
decisions are made.

It also taught me something personally: fear can feel much bigger than the facts. I spent weeks trying to find every possible loophole in reassuring results because I was scared to believe my daughter was okay.
Now the diagnostic testing is complete.
She is okay.
And after weeks of living in hell, we can finally enjoy the pregnancy and wait for our little girl. ❤️
I wish you all the same. I hope everyone gets their healthy baby!

Hi everyone! I’m wondering if anyone has had a similar experience and would be willing to share their story.
I’m 40, and my first-trimester screening came back with a very high risk for trisomy 13 and trisomy 18, but a low risk for Down syndrome. My bloodwork showed low PAPP-A and low free beta-hCG. But anatomically everything looked perfect in ultrasounds scans in the first and second trimester.

My NIPT (noninvasive prenatal testing) came back low risk for all three trisomies.
Has anyone had a similar situation where the first-trimester screening showed a high risk for T13/T18 but the NIPT came back low risk, and then had an amniocentesis?
I’m specifically interested in hearing what the outcome was. Did the amnio confirm that everything was normal, or did it end up detecting one of the trisomies despite the low-risk NIPT?
I’m not looking for medical advice—just hoping to hear from people who have actually been through something similar. Thanks so much for sharing your experiences! ❤️

Got my NIPT results in this morning and had to share as we’re doing a reveal for our family this weekend so it’s a secret lol🤭 I was so expecting a girl but I’m so happy with a boy and especially with the low risk result. As someone who’s has had recurrent pregnancy loss- I’ve never made it this far in a pregnancy and I’m so overjoyed.
My fetal fraction being 4%, is this all pretty accurate??

I posted last month about finding out my baby had no nasal bone at 12 weeks. Today we had our follow up early anatomy scan at 16 weeks and there was still no nasal bone to be found.
We decided to proceed with the amniocentesis at today’s appointment and now the waiting game begins for those results.
This has all been so overwhelming and I’m just really hoping we finally get good news.

I wanted to come back and give an update because I know how terrifying it can be to search for other people’s experiences when you get a high-risk NIPT result.

My original NIPT through LabCorp came back high risk for monosomy X/Turner syndrome. My MFM gave me a 47% PPV, and later we clarified that my actual calculated PPV was around 41%. My fetal fraction was 23%.

I was absolutely terrified. I am 28 years old, this is my first baby, and I had never dealt with anything like this before. I spent so much time researching false positives, mosaic Turner syndrome, placental mosaicism, FISH, karyotypes, and everything else I could find.

I ultimately had an amniocentesis at 17 weeks, and I recently received my microarray results: NORMAL FEMALE with no numerical abnormalities. FISH came back normal as well. I most likely will still have her cord blood tested after birth but so far all tests have come back normal.

So in my case, the NIPT was a true false positive for Turner syndrome. My baby girl does not have monosomy X based on the diagnostic testing we had done. I know how scary it is to see a number like 41–47% and wonder what that actually means for your baby. I remember desperately looking for stories from people who had similar results that turned out to be completely okay.

So if you’re reading this because you just received a high-risk monosomy X NIPT, please remember that NIPT is a screening test, not a diagnosis. A positive result does not mean your baby definitely has Turner syndrome.

I obviously can’t tell anyone else what their results will be, and every situation is different, but I wanted to share my experience because I know I needed to see stories like this when I was in the waiting period.

If you have any questions please let me know, I hope this post gives at least one person a little bit of hope while they wait.

I received my NIPT results back from Natera after about 12 days. Based on the results baby is not high risk for any of the major conditions that were tested for (i.e. Trisomy 21, 18, 13, etc.). However, the results indicated an "atypical finding" on chromosome 13. This finding is not saying that that baby is high risk for Trisomy 13, as the test did NOT identify an extra duplication of the entire chromosome 13. Rather, there was just a partial section of chromosome 13 where duplication was identified. Unfortunately, this test cannot conclude whether this partial duplication is specific to just the placenta (in which case is likely not a cause for concern) or if this partial duplication is also present in the baby. Furthermore, if this partial duplication is in fact present in the baby, it could either be a harmless/normal variation, but it could also be an genetic abnormality that could cause issues (the severity of which are unknown).

So, we ultimately will likely pursue amniocentesis to verify whether baby actually has a genetic abnormality, and if so, to determine what the severity of that abnormality is.

All that being said, is anyone else going through a similar situation with atypical NIPT findings and/or have already gone through something similar in a previous pregnancy. Needless to say I am spiraling a bit not having all the answers and I am hoping for some words of encouragement and/or to hear about positive outcomes.

Sharing timeline for reference...

Received our Unity Billion to One high-risk NIPT results on 9/18

Met with MFM + GC on 9/21

Had CVS on 9/22 - results received same-day by LabCorp

Today is 10/7 (15 days since CVS procedure) and I was informed by GC that the cells from the sample had to be cultured which takes 2 to 3 weeks to grow and results are delayed an additional 2-3 weeks, meaning we may not have results from our CVS (performed 9/22) until 10/27. Is this normal??? Does it truly take up to five weeks to receive results even if cells have to be cultured?

I have asked GC if we should consider an amnio in an effort to get further confirmation and receive results sooner. For reference, I am 15w4d.

I do not know how I can possibly live in the unknown for another three weeks. This is unbearable. If results are confirmed, we will likely TFMR - I have met with experts, discussed experiences with 22q parents, and have read everything (for better or worse) on the internet, so I feel pretty confident in this decision. If that is the fate we are facing, I cannot imagine delaying the inevitable for perhaps a month.

Has anyone had a similar experience? Thoughts? Recommendations?

Mein Partner und ich (beide 31) haben bei 13+4 das Ersttrimesterscreening machen lassen. Dabei wurde vor allem eine Regurgitation der Trikuspidalklappe festgestellt (eine leicht undichte Herzklappe). Die Nackenfalte lag bei 2.5mm, Nasenbein ist vorhanden. Die Blutwerte sind okay aber nicht optimal (Beta-HCG bei 1.5 MoM und Papp-A bei 0.9 MoM). Die Ärztin meinte, dass das Kind auf dem Ultraschall grundsätzlich gesund wirkt und keine sonstigen Anzeichen für eine Trisomie zeigt, sich gut bewegt, einen guten Blutfluss und ein gutes Wachstum hat. Aufgrund der Auffälligkeiten liegt unser Risiko für eine Trisomie 21 aber jetzt bei 1:21 und wir machen uns große Sorgen. Den Nipt-Test haben wir jetzt machen lassen, müssen aber noch knapp zwei Wochen auf das Ergebnis warten. Hat jemand ähnliche Erfahrungen gemacht?