Choosing the Best Prenatal Screening Protocol

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Abstract
Prenatal genetic diagnosis for numerical chromosomal abnormalities (aneuploidy) was once simple. In the 1970s, women who were at least 35 years of age at delivery were offered an invasive procedure, amniocentesis, and 25 to 30 percent of trisomy 21 pregnancies were diagnosed. In the 1980s, the approach to screening changed because of observations that relatively low levels of alpha-fetoprotein and unconjugated estriol and relatively high levels of human chorionic gonadotropin and, later, inhibin A in the maternal serum during the second trimester predicted the risk of fetal trisomy. This information, together with the age-specific risk of trisomy, permitted individual risks . . .

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