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An index case of “undetectable” maternal serum α-fetoprotein at 16 weeks in the first pregnancy of a 28-year-old woman was associated with birth of an infant with trisomy 18. This fortuitous finding stimulated a retrospective study of prenatally diagnosed chromosomal abnormalities. From among a series of 3,862 genetic amniocenteses, 32 cases of fetal autosomal trisomy were diagnosed for which corresponding maternal serum and amniotic fluid α-fetoprotein data could be retrieved. From a second laboratory, nine additional cases were added. The maternal serum α-fetoprotein levels expressed as multiples of the median were significantly lower in distribution for these 41 women than those from a group of normal matched control subjects (p < 0.001). Since maternal age is shown to be a less than adequate predictor of autosomal trisomic birth, we proposed that a low level of maternal serum α-fetoprotein obtained through routine screening may prove to be valuable in improving the prenatal detection of these serious anomalies.
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☆Presented by invitation at the Second Annual Meeting of the American Gynecological and Obstetrical Society, Phoenix, Arizona, September 7–10, 1983.
© 1984 Published by Elsevier Inc.