Microarray for SCA?

At 11w5d, my NIPT results came back ‘increased risk’ for sex chromosome aneuploidy (suggestive of XXY). I was referred to a MFM, who set up the genetic counseling appt. My partner and I met with a wonderful GC who was very compassionate yet also matter of fact.

We decided to proceed with amniocentesis, and after 4.5 agonizing weeks, it’s finally happening this Monday as I’ll be 16w1d. The GC recommended both FISH and karyotype testing but not microarray as she said microdeletion came back ‘not detected’ on my NIPT. Since the procedure is nearing, I feel like I want to push for the microarray. I guess I want to know any possible outcome. I’m planning to ask the MFM doctor who is performing my amnio their opinion on microarray in my case.

If you’ve had a sex chromosome aneuploidy flagged on NIPT and proceeded with an amnio, did you also do microarray? Would you if you were in this position?

Posted Dec 7, 2025, 12:55 PM UTC

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