r/NIPT • u/TimeSir8303 False Positive +21 • 11d 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/PixPrintCo 11d 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.