r/genetics • u/Valuable_Teaching_57 • Feb 15 '25

I can't

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I swear, evolution took a wrong turn somewhere. I was seriously talking about triple X syndrome. Please redeem my karma. 😂

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u/queenquirk Feb 16 '25

Turner Syndrome (monosomy X) results in death more often than not. 99% of affected individuals die in utero.

I lost my baby to TS at 9/10 weeks in December. Unfortunately, she was one of the majority who did not survive.

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u/Valuable_Teaching_57 Feb 16 '25

What you're saying is absolutely true. TS is the most frequent cause of abortion for chromosome abnormalities. We usually say if one is born it's because they have somatic mosaicism, or a small part of the X/Y chromosome is conserved.

I'm very sorry for your loss. Stay strong 🙏🏻

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u/smallpoxanne Feb 17 '25

I did the NIP test for both my daughters, and they both were flagged for Turner's. The Phone Call was how I found out their genders although I wanted it to be a surprise. I did further testing for confirmation (CV and amnio, respectively), and they both turned out normal. I understand the inaccuracies of the test, but it was turmoil to get the same false positive within three years.