Fetal and pediatric pathology · 2026
Copy Number Variants in Prenatal Diagnosis: A Study on Genetic Origins, Follow-up, and Dynamic Clinical Interpretation.
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Tian Tian, Huang Zhi, Li Yuquan, Zheng Huiling, Ding Kaize
Аннотация
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: This retrospective study analyzed 43 fetuses with confirmed CNVs from 3,726 amniocenteses (2023-2025). CNVs were reclassified via 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.
METHODS: This retrospective study analyzed 43 fetuses with confirmed CNVs from 3,726 amniocenteses (2023-2025). CNVs were reclassified via 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.