Prevalence and phenotypic findings of pathogenic or likely pathogenic copy number variants in 10,537 pregnancies

This study demonstrates for the first time that chromosomal microarray analysis (CMA) is superior to traditional karyotype analysis in high-risk pregnancies, especially in those with a single clinical indication, by more effectively detecting small copy number variations. Pathogenic CNVs are more likely to cause structural abnormalities, highlighting the stronger association between pathogenic variations and significant phenotypic consequences. Our data also suggest that factors such as assisted reproductive technology (ART) and polyhydramnios may be associated with the occurrence of p/lpCNVs. Future research should focus on clarifying the genotype-phenotype correlations of p/lpCNVs and exploring the potential impact of ART on genetic variations. Long-term longitudinal studies will help deepen the understanding of these variations' long-term effects on maternal and fetal health, ultimately improving prenatal diagnostics and genetic counseling.