Prenatal genetic diagnosis for numerical chromosomal abnormalities(aneuploidy) was once simple. In the 1970s, women who were atleast 35 years of age at delivery were offered an invasive procedure,amniocentesis, and 25 to 30 percent of trisomy 21 pregnancieswere diagnosed. In the 1980s, the approach to screening changedbecause of observations that relatively low levels of alpha-fetoproteinand unconjugated estriol and relatively high levels of humanchorionic gonadotropin and, later, inhibin A in the maternalserum during the second trimester predicted the risk of fetaltrisomy. This information, together with the age-specific riskof trisomy, permitted individual risks . . . [Full Text of this Article]
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From the Departments of Obstetrics and Gynecology and Molecular and Human Genetics, Baylor College of Medicine, Houston.
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