Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases.

ABSTRACT: Low-penetrance pathogenic copy number variations (CNVs), variation of uncertain significance (VUS) CNVs and likely pathogenic CNVs present a challenge for prenatal diagnosis. Previous studies have clarified the influence of a parent-of-origin test on the prenatal VUS CNVs. However, the influence of parent-of-origin tests on prenatal likely pathogenic (LP) or low-penetrance pathogenic CNVs (pCNVs) have not been evaluated. Here, among 2273 pregnant women undergoing prenatal diagnosis, 236 CNVs were reported by chromosomal microarray analysis (CMA) including 69 full-penetrance pCNVs, 44 low-penetrance pCNVs, 113 VUS CNVs and 10 LP CNVs. Based on the subsequent parent-of-origin tests, CNVs were classified as de novo, inherited and unknown group. Firstly, a total of 112 couple (62 VUS CNVs, two

SUBMITTER: Liu Y 

PROVIDER: S-EPMC11836297 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature