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Fetal Biometry as a Screening Tool for the Detection of Chromosomally Abnormal Pregnancies

From the Genetics Division, Department of Obstetrics and Gynecology, Washington University School of Medicine, Jewish Hospital of St. Louis, St. Louis, Missouri

Abstract

Recent studies suggest that fetal biometry may allow recognition of pregnancies at risk for Down syndrome. Secondtrimester biparietal diameter (BFD)/femur length and observed- to-expected femur length ratios were examined in 48 chromosomally abnormal fetuses and compared with those of a control population composed of both low-risk patients (maternal age less than 35 years) and high-risk patients (maternal age 35 years or more). Biparietal diameter/femur length ratio correctly identified 18% of Down syndrome pregnancies with a positive predictive value of one in 169 and a false-positive rate of only 4%. When trisomies 21,18, and 13 were considered collectively, a sensitivity of 29% and a predictive value of one in 78 were achieved, with no increase in the false-positive rate (4%). Observed-to-expected femur length ratio was less valuable in detecting chromosomally abnormal fetuses. These data suggest that the BPD/femur length ratio holds promise as a screening tool for the antenatal detection of fetal chromosomal abnormalities. Although encouraging, extrapolation of these results to other centers is not recommended without independent verification

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