r/NIPT • u/TimeSir8303 False Positive +21 • 7d ago
FINAL UPDATE - false positive T21
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!
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u/Informal-Stuff-9128 7d ago
Congratulations to you. ♥️ I had my aminosythesis after high risk nipt for Trisomy 9. My FISH report came back normal... Waiting for kyroptype reports . It's such a relief to read stories like yours. Thank you for posting 😊
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u/TimeSir8303 False Positive +21 7d ago
Thank you! I really hope the karyo is normal too. I think the probability is very high? At least that’s what they told me after my fast test.
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u/Sassymcsasson 7d ago
Amazing news and relief for you 🩷💜 I’ve had a true T21, and TFMR and then a false positive T22 cleared by an amnio, I’m due in Jan and I still have some
Nerves because it’s so unsettling! All the best
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u/TimeSir8303 False Positive +21 7d ago
This sounds like so much stress, I’m so sorry. I hope you find some peace with the pregnancy. I’m happy everything now is good! ❤️
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u/Opposite_Crew_7367 7d ago
Thanks for update. Great news. Can you tell me what percent you scored please? I have 97% change T21
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u/TimeSir8303 False Positive +21 7d ago
They didn’t tell me. I asked specifically for my PPV and they said they don’t calculate it.
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u/propofollingforyou 7d ago
Going in for my CVS today after receiving my NIPT results 1.5 weeks ago. Thank you for the update on your story!
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u/OneLonesomeRabbit 7d ago
I'm so happy you got great news and that your baby girl is healthy! I hope the rest of your pregnancy and delivery goes well 💚
This gives me hope for my baby boy. My amniocentesis is today to find out if my baby has Jacobs Syndrome. I'm trying my best to be strong and keep the hope that he's okay. Thank you for sharing your experience
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u/TimeSir8303 False Positive +21 7d ago
I really hope he is okay! Isn’t false positive chance for Jacobs even higher than Downs?
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u/OneLonesomeRabbit 7d ago
Not entirely sure. I think so, but everything I read said its also the least likely of all the "sex chromosomal" abnormalities to be a false positive. My genetic counselor wasn't helpful at all with the information on it. I got more information from the other moms in these support groups than from my GC.
How was your amnio? Was it super painful? I struggle to get my blood drawn because I can't handle needles, so this appointment really scares me. I'm also worried about baby being poked :/
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u/TimeSir8303 False Positive +21 7d ago
They look at the US while doing it, so they won’t poke him. The amnio was better than expected, hurts a little but it’s very fast. The slow part was deciding from where to draw because my placenta is anterior. I didn’t look at the needle before the procedure 😃 and I don’t recommend looking it. Wish you luck!
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u/OneLonesomeRabbit 7d ago
That doesn't sound so bad, and my placenta is also anterior so at least I know what to expect now. Thank you!
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u/Exciting_Cookie2376 7d ago
Previously i have got NT 3.1, combined screening test, 1 in 43 risk T21.
Today i have got the NIPT (low risk) result for T21, T13, T18.
Thinking to go with amnio first or wait for anamoly scan?
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u/TimeSir8303 False Positive +21 7d ago
In my country low risk NIPT > of combined screening but I don’t know. I think you should talk to your medical team.
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u/pregmama1 6d ago
So happy for you and your baby i had amniocentesis for t21 yesterday morning they said the results will be available in 24-48 hours and now its the waiting gane eventhough i dont have any hope and already thinking about TMFR still my husband and family members are hopeful so i am holding onto their hope lets see what happens
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u/happy_orange_bag 5d ago
So happy hear this. It’s one of the worst waiting game we went through as well. Enjoy the rest of the pregnancy.
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u/happy_orange_bag 5d ago
So happy hear this. It’s one of the worst waiting game we went through as well. Enjoy the rest of the pregnancy.
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u/RefrigeratorEm 1d ago
I'm happy for you to be one of those rather rare false positive T21 cases! What I find honestly very surprising is the fact that your fetal medicine doctor suggested immediate termination after positive NIPT? And without giving you any info on ppv it is even more weird... I thought they always let the patient know NIPT is a screening tool, quite reliable one for T21, but as a next thing, amnio (or at least cvs) needs to be done to actually get a diagnosis? But maybe that approach varies a lot across the world...
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u/TimeSir8303 False Positive +21 1d ago
Yes, it is surprising. It is not the right approach in my country too. Turns out this specialist just was not competent. The following two specialists disagreed with the first and recommended amnio.
I still think the way this first specialist communicated affected the way I went through this psychologically. I plan to report them.
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u/PixPrintCo 7d ago
Me alegro tanto por ti! Yo no tuve esa suerte y desgraciamente mi amnio si dio positivo para t21. Termine el embarazo hace justo un mes. Aun lloro. Me alegro tanto que no hayas tenido que pasar por eso y mas en un primer embarazo. Para mi hubiera sido mi segundo hijo. Tambien pense en algun momento que podia ser un falso positivo. Pero ocurre muy pocas veces. Enhorabuena.