Combining humerus and femur length for improved ultrasonographic identification of pregnancies at increased risk for trisomy 21.

Abstract

Our purpose was to evaluate the value of the combination of femur and humerus length measurements in ultrasonographic screening for trisomy 21. Direct necropsy measurements were analyzed on 703 midgestational fetuses (641 normal, 62 with trisomy 21). The (leg+arm length)/foot length ratio was found to be significantly shortened for fetuses with trisomy 21. On the basis of necropsy data 576 midgestational pregnancies were evaluated ultrasonographically for (femur+humerus length)/foot length ratio to identify fetuses at increased risk for trisomy 21. An ultrasonographic (femur+humerus length)/foot length ratio < or = 1.75 gave a 15.3 odds ratio risk for trisomy 21 in our high-risk population and correctly identified 53% of fetuses with trisomy 21, with a false-positive rate of 7%. In addition, the use of this ratio eliminates the need for gestational age-corrected nomograms and complicated calculations in ultrasonographic screening. The (femur+humerus length)/foot length ratio may be an additional effective ultrasonographic marker for identification of fetuses at increased risk for trisomy 21.