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

Abstract

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. 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 (>/=1:274) because of either advanced maternal age (>/=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 >/=1 abnormal ultrasonographic marker was considered an abnormal test result. 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. 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.