Objective: To establish the efficacy of second-trimester fetal long-bone biometry (femur, humerus, tibia, and fibula length) in detecting trisomy 21 and to generate tables for adjusting the risk of trisomy 21 according to long-bone biometry.
Methods: Four long-bones--femur, humerus, tibia, and fibula--were measured ultrasonically in singleton fetuses before genetic amniocentesis. Fetuses with normal karyotypes were used to derive regression equations describing predicted lengths on the basis of the biparietal diameter measurement. The efficacy of each abnormally short bone, alone and in combination, was determined in 22 fetuses with trisomy 21 encountered during the study period. After the sensitivity and specificity of long-bone biometry were established, appropriate tables were generated by Bayes' theorem to adjust the risk of trisomy 21 in the second trimester depending on long-bone biometry.
Results: Of 515 patients between 14 and 23 weeks' gestation, 493 had normal fetal karyotypes and 22 had trisomy 21. The sensitivity of an abnormal ultrasound, as defined by the presence of one or more short bones, was 63.6% and the specificity was 78.5%. According to Bayes' theorem, genetic amniocentesis may not be recommended for women less than 40 years old in the presence of normal long-bone biometry (ie, all four bones normal).
Conclusion: Second-trimester fetal long-bone biometry is useful in detecting trisomy 21 and may be used to adjust the a priori risk of both high- and low-risk women for trisomy 21 and, therefore, the need for genetic amniocentesis.