Has anyone had the cell-free DNA test (aka MaternT21) and tested for xy chromosomal abnormalities?

Question

I had this test primarily to find out chances of Down syndrome and trisomy 13/18 abnormalities.  My test came back positive for XXY which the genetic counselor said only means I have a higher risk of the baby having that. The only way to tell for sure is to do amnio.

Has anyone else had an experience like this? Did u do amnio to confirm? The XXY syndrome is not life threatening but the syndrome causes infertility and lower bone density/ muscle mass.

We're waiting for our doctor to get back from vacation to get her input but any advice is appreciated!!

Answer

How much does it matter to you to know before birth? Amnio is very low risk with today's technology. If you need to know for sure, I would do it. If it doesn't matter to you regardless, you could skip it and go with what happens.

Answer

I'm sorry to say this, but I'm confused by what your doctor told you about the test. My doctor told us that cell free DNA is 99% accurate for Down's syndrome and Trisomy 21. We worked with the practice genetic counselor who explained that the test looks at the baby's actual genetic material through cells circulating in your blood stream. This also matches what I've read on my own. You might want to clarify.

Has anyone had the cell-free DNA test (aka MaternT21) and tested for xy chromosomal abnormalities?

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