Evaluating the effectiveness of routine noninvasive prenatal screening for CNVs in 22q11.2 region in a cohort of 38,495 pregnancies.

ABSTRACT: 22q11.2 deletion syndrome (22q11.2 DS) is the second most common cause of congenital heart disease. The American College of Medical Genetics and Genomics (ACMG) has recently recommended implementing non-invasive prenatal screening (NIPS) for 22q11.2 DS for all pregnant women. This study aims to assess the effectiveness of routine NIPS for screening 22q11.2 deletion in a cohort of 38,495 pregnancies from the general population. We conducted a retrospective analysis of 38,495 pregnant women who underwent NIPS at Longgang Maternal and Child Health Hospital in Shenzhen from December 2022 to March 2024. Chromosomal microarray analysis (CMA) was performed on fetuses and pregnant women identified as high-risk for 22q11.2 DS by NIPS, using amniotic fluid samples and the leukocyte cells, respective

SUBMITTER: Cong X 

PROVIDER: S-EPMC12856005 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature