A retrospective analysis of prenatal genetic results in fetal hydronephrosis.

ABSTRACT:

Objective

To discuss the application value of technologies such as chromosome microarray analysis (CMA) in fetuses with hydronephrosis and pyelectasis.

Methods

Retrospectively collected the prenatal diagnostic data of 83 fetuses with hydronephrosis from January 2020 to July 2024. The positive rate of chromosomal abnormalities detected by different ultrasound abnormalities was statistically analyzed.

Results

Among the 83 pregnant women, 10 cases of abnormal karyotypes were detected by invasive prenatal diagnosis, with an abnormality rate of 12.05%. Numerical chromosomal abnormalities accounted for 90%, mainly trisomy 21 and 13. In the fetuses with normal karyotype/no abnormality, CMA additionally detected 15 copy number variations (CNVs) in 12 cases. Divided into isola

SUBMITTER: Jin K 

PROVIDER: S-EPMC12097554 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature