Isolated fetal pyelectasis and chromosomal abnormalities

The primary objective of this study was to determine if isolated pyelectasis is a risk factor for trisomy 21. Twelve thousand, six hundred and seventy-two unselected singleton fetuses were examined by prenatal ultrasound during the second trimester at a single institution. The sensitivity, specificity, positive predictive value, negative predictive value, and likelihood ratio of pyelectasis (either isolated or in association with other soft markers/structural anomalies) to detect trisomy 21 were calculated. Pyelectasis (anteroposterior pelvic diameter ≥4 mm) was detected in 2.9% (366/12,672) of the fetuses. Among these, 83.3% (305/366) were isolated, and 16.7% (61/366) were associated with other markers/structural anomalies. The prevalence of trisomy 21 was 0.087% (11/12,672) and, among these fetuses, 2 (18.1%) had pyelectasis, 1 isolated, and 1 associated with other markers/structural anomalies. The presence of isolated pyelectasis had 9.09% sensitivity, 97.6% specificity, 0.33% positive predictive value, and 99.9% negative predictive value to detect fetuses with trisomy 21. The likelihood ratio of trisomy 21 in this group of fetuses was 3.79 (95% CI 0.582–24.616). Among fetuses with pyelectasis and other associated markers/structural anomalies, the sensitivity, specificity, positive predictive value, negative predictive value, and likelihood ratio for trisomy 21 were 9.09%, 99.5%, 1.64%, 99.9%, and 19.2 (95% CI 2.91–126.44). In the absence of other findings, isolated pyelectasis is not a justification for the performance of an amniocentesis.