Critical reappraisal of the utility of sonographic fetal femur length in the prediction of trisomy 21

Measurement of femur length (FL) has been advocated as part of a genetic so nogram for the prediction of Down syndrome (DS). However its predictive abi lity has been inconsistent. We have studied the diagnostic value of this so nographic parameter in a prospective cohort of women with singleton gestati ons undergoing genetic sonogram between 14 and 22 weeks because of advanced maternal age or family history of aneuploidies. Genetic sonograms were per formed at a mean gestational age of 17.0 weeks (range 14 22). DS was diagno sed in 30 fetuses, while 888 were euploid. Mean+/-SD observed/expected (O/E ) values of FL (1.00 +/- 0.10 versus 0.97 +/- 0.01, p = 0.07) were not sign ificantly different between euploid and DS fetuses. Comparison of the regre ssion equations of FL versus biparietal diameter revealed that while the in tercepts were not significantly different between euploid and DS fetuses, t he difference in slopes reached significance (p = 0.04) suggesting that the predictive ability of FL may increase with advancing gestational age. In a ddition, a MEDLINE search (National Library of Medicine) was conducted for articles published between 1985 and 1998 on fetal femur length in the predi ction of trisomy 21. Review of the published literature on the subject sugg ests that FL is not a consistent or reliable sonographic predictor of DS. p ublished thresholds of FL should not be used outside of the Institution fro m which they originated, and each Institution should establish whether this parameter has predictive ability in its own population. Copyright (C) 2000 John Wiley & Sons, Ltd.