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

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). Overall design: The highest detection rates were found for 22q11.21 (9.9%, 62/629), 15q11.2 (7.8%, 49/629), 16p11.2 (5.7%, 36/629), and 16p13.11 (5.1%, 32/629) microdeletion/microduplication