r/NIPT•
Wren_23

NIPT high risk for XXY- awaiting amnio at 17 weeks - vanishing twin

Hi all, this is my first time posting so I may get the flags wrong.

I’m mid 30s and have a living toddler.

We had a TFMR in early 2023 due to a major structural defect identified at the 20 week scan. I also had an amnio and there were no chromosomal abnormalities, it was just bad luck.

I am now 16 weeks pregnant again. Had the NIPT done with panorama at just over 10 weeks and it came back as high risk for XXY.

Subsequently went for various scans and the hospital have identified a vanishing twin, demised around 6/7 weeks and are wondering if that led to the result, however the NIPT, which was input as a singleton pregnancy, didn’t pick up the twin. Had I known, I would not have done the NIPT but here we are.

I tried to have an amnio done yesterday but my membranes aren’t fused enough so I have to go back next week. It is so disappointing as we have had to wait for the amnio over the Christmas period and I was really relieved and ready for it to finally happen yesterday, thinking next week we would finally have answers. My scans are all showing fine- no structural issues like last time so it seems if there is an issue, it will just be chromosomal. Baby also confirmed as a boy, so that makes me think the result is probably a true positive.

I don’t really know the purpose of my post, save to ask if anyone else has had NIPT results skewed by a vanishing twin that wasn’t identified by the NIPT? And if anyone else has had their membranes fuse between 16 and 17 weeks? I am terrified that when I go back next week, they will still say it is too risky to do the amnio.

I have done a lot of research on XXY and so please no posts about living with it, I feel like I’m up to speed.

Thanks all for reading ❤️

Posted Jan 12, 2024, 7:38 AM UTC

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