Copy Number Variants in Prenatal Diagnosis: A Study on Genetic Origins, Follow-up, and Dynamic Clinical Interpretation

OBJECTIVE: To explore the role of pathogenicity classification, genetic origin, and clinical decision-making in pregnancy outcomes for copy number variations (CNVs) detected by prenatal chromosome microarray analysis (CMA), and to assess the value of CNV reclassification in dynamic interpretation. METHODS: literature and database review. RESULTS: Among 43 CNVs, 15 were pathogenic (P)/likely pathogenic (LP) (53.3% de novo) and 28 were variants of uncertain significance (VUS) (71.4% inherited). Reclassification updated 2 to P, 2 to VUS, and 23 to likely benign (LB). Incomplete penetrance and fetal sex influenced interpretation. CONCLUSION: CNV interpretation is dynamic; regular review incorporating updated data improves prenatal counseling accuracy.