Guidelines for Prenatal Genetic Screening

Jane Chueh, MD


February 10, 2022

For every 150 babies born, one has a chromosomal abnormality. The most common chromosomal disorder is Down syndrome (trisomy 21). Advances in obstetric technology allow parents to identify abnormalities more accurately prior to birth.

Noninvasive prenatal screening using cell-free DNA in the maternal plasma has demonstrated high sensitivity for detecting trisomy 21 (99%), as well as trisomies 18 and 13. Because of its accuracy, the number of diagnostic tests that are performed on expectant mothers has been substantially reduced.

Dr Jane Chueh of Stanford University discusses the optimal approach to prenatal genetic screening, including the benefits, limitations, and risks involved.


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