Indication-specific accuracy of second-trimester genetic ultrasonography for the detection of trisomy 21

OBJECTIVE: The object of this study was to determine whether there are any clinically significant indication-specific variations in the accuracy of second-trimester genetic ultrasonography and to provide a risk adjustment for fetal trisomy 21 according to the results of genetic ultrasonography. STUDY DESIGN: From November 1, 1992, to September 30, 1998, a second-trimester genetic sonogram was offered to all pregnant women who were at an increased risk for fetal trisomy 21 (greater than or equal to 1:274) because of either advanced maternal age (greater than or equal to 35 years) or abnormal serum biochemical profile or both of these. Outcome information included the results of genetic amniocentesis if performed and the results of pediatric assessment and follow-up after birth. In determining diagnostic accuracy of the genetic sonogram the presence of greater than or equal to 1 abnormal ultrasonographic marker was considered an abnormal test result. RESULTS: A total of 1835 fetuses with known outcomes underwent genetic ultrasonography between 15 and 24 weeks' gestation; of these 1792 had normal results, 34 had trisomy 21, and 9 had other chromosomal abnormalities. The likelihood of fetal trisomy 21 was reduced by 80% after a normal result of genetic ultrasonography. The overall sensitivity, specificity, and positive and negative predictive values of genetic ultrasonography for the detection of trisomy 21 were 82%, 91%, 15%, and 99.6%, respectively. There were no significant indication-specific variations in the accuracy of second-trimester ultrasonography. The sensitivity for the detection of fetal trisomy 21 ranged from 80% among women with advanced maternal age to 100% among women with both an abnormal biochemical profile and advanced maternal age. CONCLUSIONS: The likelihood of fetal trisomy 21 risk was reduced 80% after a normal result of genetic ultrasonography. In addition there were no significant indication-specific variations in the detection rate of genetic ultrasonography.