Comparison of humerus length with femur length in fetuses with Down syndrome

Abstract

A recent report by FitzSimmons et al. demonstrated a greater frequency of upper- versus lower-extremity shortening in autopsies of second-trimester fetuses with trisomy 21. We undertook this study to determine whether this upper-limb shortening could be detected by prenatal ultrasonography in the second trimester and therefore identify fetuses at risk for trisomy 21. A restospective review of all prenatal sonograms preceding genetic amniocentesis was conducted. Between 1987 and 1990 11 consecutive fetuses between 15 and 22 weeks' gestation with trisomy 21 were identified by genetic amniocentesis. Femur and humerus lengths were plotted on growth curves created from 1470 normal patients between 12 and 26 weeks. Gestational age was confirmed by last menstrual period and biparietal diameter. In fetuses with trisomy 21, seven of 11 humeri were \\lt5th percentile, for a sensitivity of 64%, whereas only two of 11 femurs were \\lt5th percentile, for a sensitivity of 18%. Biparietal diameter/femur length and biparietal diameter/humerus length ratios were also tested to predict Down syndrome. In only 2 of 11 cases was the biparietal diameter/femur length ratio τ95th percentile, whereas the biparietal diameter/humerus length ratio was τ95th percentile in 7 of 11. Since all seven were identified by shortened humerus alone, we conclude that humerus length versus gestational age is the simplest and most effective screen. The positive predictive value of an abnormally short humerus length in detecting Down syndrome was 6.8% in our population where the prevalence of Down syndrome was 1 of 173. The present study supports the observations of FitzSimmons et al. that shortened humerus length has a greater sensitivity than femur length in cases of trisomy 21. We conclude that in fetuses at risk for trisomy 21 humerus length should be determined, because it may, if shortened, aid in the prenatal diagnosis.