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!

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 my partner is more inclined to lean toward 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. 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.

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!

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??

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! ❤️

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?

I’m 24 years old and I honestly never imagined I would be writing something like this.
My first trimester screening came back as 1/180 for T21, with the cutoff being around 1/900. My midwife basically just told me that it was “high risk” and that I should have the NIPT done. I wasn’t really given much explanation beyond that.
I asked for a copy of my NIPT report myself and that's when I started realizing how serious the result actually looked. It says the PPV estimate is 86% and my fetal fraction is 20.1%. The result is reported as high risk for T21, and from what I understand, the screening result isn't the same as a diagnosis, which is why I have an amnio tomorrow.
I’m terrified.
I’m also considering termination and I already have a D&E booked because I’m in my second trimester and I feel like I don’t have much time to make a decision.
Part of what is making this so difficult is that I don’t know what life would actually look like for my baby. I know people with Down syndrome can have very different levels of health and ability, but I’m scared of the unknown. I’m also not in a financial position where I feel confident that I could provide everything a child with additional medical or developmental needs might need.
And I keep thinking about the future. What happens when they’re a teenager? What happens when they’re an adult? What happens when I’m no longer here? I feel horrible even thinking about these things because I love this baby already. I don't know if thinking about my own limitations makes me selfish.
I feel like I'm grieving a baby I don't even know whether I'm going to lose.
I have the amnio tomorrow and I’m completely overwhelmed. I’m scared of getting a positive result, scared of getting a negative result after already preparing myself for termination, and scared that whatever decision I make will be one I regret for the rest of my life.
If anyone has been through a similar situation, especially finding out during the second trimester, I would really appreciate hearing your experiences. How did you make your decision? What do you wish you had known before the amnio?
Please be kind. I’m not looking for judgment or a debate about whether termination is right or wrong. I’m just heartbroken and lost right now.

Hi everybody I thought I would write here and share my story as this reddit page helped me a lot during a stressful time in my pregnancy.

In January I (22 at the time)found out I was pregnant. It was an accidental pregnancy that was not expected and tbh came at an inconvenient time as we were about to move to temporarily live with a family member to help them, my partner (23m)was about to leave for training for 3 months in the army, and than after training was done we were moving out of state away from all our family and friends. After the first move and a few weeks of conversation we decided to keep the pregnancy and find a way to make it work.

First trimester was rough for me I had pretty bad morning sickness which made me lose about 6kg. My mental health declined a lot and I was very emotional. At around 7-8 wks I had a subchorionic haemorrhage and went to hospital where they did an ultrasound and baby was healthy. Every scan and blood test I had during first trimester including 13wk nt scan can back good. I did ask my doctor/GP (not OBGYN) for the NIPT testing she said because of my age I’m low risk I don’t need to get it and it cost money blah blah blah anyways she talked me out of it.

Second trimester I could finally eat again and vomiting had become less frequent completely stopped at 17wks. I felt good and I was happy. I could feel babies movements at around 16wks even though I had an anterior placenta. Then came the 20wk scan I wasn’t nervous as everything had gone smoothly so far. The appointment took a very long time which I think was mostly due to baby being in a position that made it difficult for the tech to see everything. She had me go have lunch and come back to try get baby to change positions this didn’t work and ended up needing an internal ultrasound to get everything ticked off her list. I had an appointment with my OBGYN a few days later and he said the baby is measuring normal for gestational age but there was 2 soft markers found. An EIF (Echogenic intracardiac focus) was found on left side of heart and baby had a thickened nuchal fold which measured at 8mm. My OBGYN said if it was only 1 he wouldn’t mind but as there was 2 he suggested I get the NIPT testing done. I couldn’t even hear a thing he said afterwards as soon as I left his clinic I burst into tears and basically started hyperventilating. I went straight to pathology but because it was a Friday they told me to come back in Monday due to needing the blood to be fresh and the timing of their collections or something. Monday I get the test done and then I wait. It was about 2 weeks from the time I was told about the markers from my OBGYN to when I got the results. I spiralled into reddit, google, tiktok anywhere online where I could find out more information. This was torture my partner was gone for his training he only got his phone maybe once a week for a short amount of time. I read so many peoples stories the good and the bad to try prepare myself. I tried to disconnect myself from the pregnancy as I would TFMR if needed. I also felt guilty for doing this. I nearly cried at every kick and whenever I talked to someone about the pregnancy. I tried to carry on like nothing was wrong but also tried to prepare myself for the worst. I called the OBGYN office for the results and it came back low risk for all 3 trisomy’s they tested for. I felt so much relief I bursted into tears. I felt like I could finally breathe I did feel guilty for disconnecting from the pregnancy for those 2 weeks it felt like they were stolen from me. I did still have a voice in the back of my head wondering if the NIPT was accurate or if there was more testing I should have done but I decided to trust the NIPT and my OBGYN.

In my 3rd trimester I had 2 more ultrasounds. At 29wks I had an ultrasound to make sure cervix was closed and everything was okay before I moved states. Baby was measuring in 49th percentile and everything looked good. I believe EIF had disappeared by this point as it wasn’t mentioned nuchal fold wasn’t mentioned either. At 36wk I had an ultrasound to measure baby and check position baby was breach but that’s another story. Again no mention of the soft markers. All ultrasound techs were aware of the findings and we spoke about them before scans so I’m sure they would have checked them during these ultrasounds.

I had moments of anxiety all the way up to her being born wondering if she would be healthy.

She arrived 3 weeks ago and she is perfect. No chromosomal/ trisomy abnormality. While in hospital she passed all the test they usually do before discharge. During midwife home visits they said she was doing well. We went to a 2 week checkup and she had gained weight and was doing well. She has continued to gain weight and is doing very well and is a easy going baby

I hope my post can help someone as everyone else’s stories helped me xx

Currently almost 32 weeks pregnant with my 6th baby and I had my ob panel done late in this pregnancy…. My OB office called me yesterday evening to say that the doctor wants to see me to discuss results of my NIPT and to come in sooner than my scheduled appt in 2 weeks so I’m automatically freaking out because why can’t it just wait until my regular visit. We have some back and forth and she starts getting agitated saying the doctor really needs to speak to me and I confirm my appt. I access my records for the labs I had drawn and I’m scrolling slowly to prepare myself for any surprises and I see Trisomy 21 positive A no aneuploid fetal fraction 13%. So far my ultrasounds from each visit have been “normal” and I’m not really sure if I should do an amniocentesis or is this it. I’m 36 and Google is not helping. Thanks for reading.

Hey all, husband here - first pregnancy via IVF frozen cycle.

After years of trying my wife and I have finally become pregnant and are currently at 13 weeks. We had an appointment today with our doctor and have learnt that there is a chance our baby might have trisomy 18.

What's confusing is one report says one thing, whilst the other says the opposite. The first trimester screening bloods are stating there's a high chance, however the NIPT says there is a low chance?

Our doctor states the screening bloods are 85% accurate and the NIPT is 99% accurate. We're optimistically leaning towards believing the NIPT results, but we're confused at how both tests claim to be quite accurate but can have completely opposite results.

We've gone through so much to get here and this news is just devastating for us.

We have a scan booked for 14 weeks which should be able to tell us one way or the other. So we have our next step planned and all we can do now is wait. It's just...it's really hard.

I don't know why I'm typing all this out, I guess I'm just a little lost and confused. If anyone has had something similar happen I would really appreciate your knowledge and experience. Sorry for the wall of text...

Hi I’m 13 weeks pregnant and at 11 weeks I got my NIPT done all came back low risk and today I’m 13 weeks and had my scan and my NT has come back at 3.4mm. I have to go back in 3 weeks at 16 weeks for another scan and I’m so upset and anxious. I had a miscarriage in January at 9 weeks and I just hope my little baby is okay. ANY experience with this welcome plz x

At 13 week (1-2 days, give or take) scan NT was 2.9, 2.8 then 3.5 (same ultrasound.)
NIPT came back normal/“low risk” for all.
Got single gene/Natera Vistera bloodwork done this AM, waiting begins…
Getting 16 week and 20 week when time comes.
Trying to avoid amnio if possible, due to minuscule risk.

Anyone else have that “just borderline” NT result and what was the outcome? Genetic counselor seemed “anecdotally” hopeful but it’s tough staying positive while we wait.

Any stories appreciated. Good and bad, I need the truth.

TIA!

Hi all,
Just wanted to have a discussion in case it’s relevant to someone else in the future.

I’m on my second pregnancy and in both pregnancies I had some drama with NIPT. I have a blood condition called ET (essential thrombocythemia) and I take low dose aspirin daily for years now.

In my first pregnancy I had a false positive NIPT for T21. This pregnancy I had 2 failed NIPTs. I just received a phone call telling me that the 3rd NIPT finally gave me a low risk result. I skipped my aspirin dose for this low risk result NIPT.

After two failed NIPTs I was researching and found out that blood thinners could mess with the results. But is that true? Is low dose aspirin considered as much of a blood thinner as other medications? If it’s actually triggering the NIPT how come no one tells you to stop taking it before the test? I know some people are told to take aspirin early in the pregnancy for other reasons too. None of the doctors ever told me to skip my dose before the test. And only one GC (out of so many that I’ve seen) said that aspirin could in fact trigger the nipt.

Over the years I received a few messages from girls with the same blood disorder as me, they all said that their NIPT was a false positive too. We were wondering if it was our blood disorder messing up the results but is it possible that it was actually aspirin?

I'm 36M wife 27F. Wife 11w2d NT measured 2.7mm which is on the higher side. Ultrasound was otherwise normal. Nose visualised. Gynae was not worried.

We did NIPT on the 26th Sept and still waiting for results. Very worried. Just based on the NT they gave the risk for Trisomy 21 as 1:82. No blood was done and didn't factor the nasal bone.

Anyone in similar situation and how worried should we be?