The correlations of prenatal renal ultrasound abnormalities with pathogenic CNVs in a large Chinese cohort.

We retrospectively reviewed the CMA findings for a large cohort of fetus with different types of renal ultrasound abnormalities. The CNV detection rate varied significantly (3.03%-39.58%) among groups. The most consistent ultrasound indication for CMA test would be hyperechogenic kidney. Our data provided specific guidance for ordering prenatal genetic testing for fetus with renal ultrasound findings. Specifically it is more appropriate to perform CMA test for isolated fetal pyelectasis postnatally rather than prenatally via cordocentesis at the third trimester. This article is protected by copyright. All rights reserved.