Copy number variation analysis of 18,000 fetuses in southern China

ABSTRACT: Chromosomal microarray analysis (CMA) in prenatal diagnosis detects copy number variations (CNVs) in many fetuses; however, the low penetrance and phenotypic diversity of CNVs complicate genetic counseling, resulting in limited understanding of intrauterine ultrasound phenotypes linked to CNVs. In a retrospective analysis of 25,000 cases at Fujian Maternal and Child Health Hospital, 18,000 pregnant women underwent SNP array testing (December 2015 to June 2023).

ORGANISM(S): Homo sapiens

PROVIDER: GSE274505 | GEO | 2024/08/14

REPOSITORIES: GEO