Prevalence and phenotypic findings of pathogenic or likely pathogenic copy number variants in 10,537 pregnancies.

ABSTRACT:

Background

Pathogenic and likely pathogenic copy number variations (p/lpCNVs) detected through chromosomal microarray analysis (CMA) are crucial for understanding the etiology of birth defects. However, due to incomplete penetrance and variable phenotypic expression, the intrauterine phenotypic characteristics and genotype-phenotype correlations of these variations remain unclear. Therefore, this study aims to explore the prevalence and clinical implications of p/lpCNVs in a large cohort of pregnant women.

Methods and findings

This study retrospectively analyzed 10,537 prenatal diagnostic cases from 2013 to 2022 at the Affiliated Hospital of Jining Medical University. All pregnant women underwent amniocentesis and chromosomal microarray analysis (CMA). Cases were divided int

SUBMITTER: Ren S 

PROVIDER: S-EPMC12561929 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature