asked

My wife is pregnant (first time) at 36 years old, and we are first cousins with no known history of inbreeding. The combined test (nuchal scan + blood work) returned very low risk for trisomies 21, 13, and 18. We are in the 16th week and considering amniocentesis. We are offered a basic amniocentesis (results in 1 week), can it discover birth defects other than the above trisomies? Should we ask for an extended test? Are we as relatives at a significantly higher risk for sex chromosome disorders? Are the low risk results of the combined test indicative of a generally healthy chromosomal structure, or do they only relate to the 3 trisomies checked?

May 1st, 2024

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