Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia.

ABSTRACT:

Objective

Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) for genetic diagnosis. The clinical features of the patients were also evaluated.

Methods

We evaluated the genetic and clinical data of 51 prenatally diagnosed fetuses with CDH. CMA was performed for every patient. If CMA did not yield diagnostic results, the samples were subjected to WES.

Results

Compared with fetuses with isolated CDH (n = 42), those with non-isolated CDH (n = 9) presented a higher genetic diagnostic rate (22.2% vs. 2.4%). The overall diagnostic yield was

SUBMITTER: Lu Y 

PROVIDER: S-EPMC12611539 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature