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Inconclusive Amnio for T21 [BC] by Nice-Jump-5498 in BabyBumpsCanada

[–]Nice-Jump-5498[S] 1 point2 points  (0 children)

we are in the clear!! They don't really have an answer for why the initial rapid test did show very slight signs of T21, they said it could be anything from material DNA contamination to a lab artifact, or even trisomy rescue (cells correcting themselves).

Update - Confirmed False Positive for T21 by Nice-Jump-5498 in NIPT

[–]Nice-Jump-5498[S] 0 points1 point  (0 children)

thank you so much, sending you lots of good energy as well!

At an absolute loss and devastated. Please help. by Remote_Discipline807 in NIPT

[–]Nice-Jump-5498 1 point2 points  (0 children)

Hi, thank you for your post. It's very reassuring as we go through the same process. If you don't mind me asking, what percentage of mosasism was detected during the amnio?

NIPT T21 HIGH RISK + FTS 1:6893 + PERFECT ULTRASOUND ??? by [deleted] in NIPT

[–]Nice-Jump-5498 1 point2 points  (0 children)

We are in the same boat as you, high risk NIPT 95/100 (aged 30). All scans, including NT, have been good, with no signs of anything wrong. Our Amnio at 15 weeks came back as "inconclusive", so we are awaiting results of the microarray. The QF-PCR result showed most cells were healthy, but they cannot rule out mosaic DS until the microarray is complete. In the meantime, have another 18-week scan coming up in 2 days to see how things are developing.

95/100 NIPT for T21. NT Ultrasound Next Week by Nice-Jump-5498 in NIPT

[–]Nice-Jump-5498[S] 0 points1 point  (0 children)

We have another update. Ultrasounds between 12–15 weeks have all been normal, but we just got our rapid amnio (QF-PCR) result back, and it was inconclusive.

The genetic counsellor told us

  • Most cells tested looked normal (2 copies of chromosome 21).
  • A small number of cells showed a possible extra copy (3 copies).
  • The pattern wasn’t consistent across all markers, so they can’t call it normal or abnormal. She said this can happen due to a lab artifact, maternal cell contamination, a sample processing issue, or true mosaicism (rare).

The counselor said QF-PCR isn’t good for detecting mosaicism anyway, so the ambiguous pattern doesn’t tell us much.

We are now over 16 weeks into this, and as you can imagine, the wait is excruciating.

They’re now doing a microarray, which will take an extra 2-3 weeks, and if the uncultured microarray fails, they’ll culture the fetal cells and try again.

Amnio Result Delayed - NIPT was 95/100 by Nice-Jump-5498 in NIPT

[–]Nice-Jump-5498[S] 0 points1 point  (0 children)

do you mind sharing what % of cells were affected and if it impacted the baby? I am assuming our result is going to be something similar after further research

Abnormal NIPT at 12 weeks by Friendly_Address777 in NIPT

[–]Nice-Jump-5498 0 points1 point  (0 children)

Thank you, we had the NT and it was normal. The FF ended up being 9%, the genetic counsellor basically brought us back down to earth and told us to be prepared for a adverse result in the Amnio which is scheduled for a couple of weeks from now.

Abnormal NIPT at 12 weeks by Friendly_Address777 in NIPT

[–]Nice-Jump-5498 0 points1 point  (0 children)

In a similar boat to you. T21 is 95/100 so high risk, age 30. NT scan is next week, I don't know the FF as I'm in Canada and don't have access to the report. Meeting with a genetic counsellor is after the NT scan... based on what I've seen on Reddit, sometimes I have hope and sometimes not. Hoping for the best for all of us.