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NIPT with microdeletions - high false positives?

1 reply

Soundbathfan · 04/06/2023 09:47

I'm about to book a NIPT and stumbled across offers of including microdeletions in the panel. I'm a medical professional and on seeing this it raised my interest, initially thinking well yes if I'm going for the NIPT I may as well go for the full shebang
One coffee and some critical thinking later and there's me pondering how on earth such tests could provide a decent level of accuracy given the rarity of the conditions and likely high false positive rate.
Then I found this fascinating article www.nytimes.com/2022/01/01/upshot/pregnancy-birth-genetic-testing.html (whilst not from a scientific journal directly it does pull some info together in an accessible and credible way about how there are very high false positive rates on these tests)
I wondered if anyone has had these newer tests as part of the NIPT and what your experience was?

OP posts:
Cherryblossoms85 · 04/06/2023 09:52

I looked into paying the extra for the microdeletions and in the end felt like it was a bit of a con, given how insanely rare they are. I was happy with the main test ruling out trisomies.
I have another child with microdeletions or duplication (can't remember which he had) that have no effect - his issues and the reason for the NHS sequencing were unrelated and after a year of all sorts of awful scenarios they just shrugged and said "one of those things, he'll be fine". Maybe that's why it felt unnecessary to me.

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