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Xing-Mei Yao

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Open access Oct 2026

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations

ABSTRACT Objective This study aimed to assess the value of genetic testing in the prenatal congenital heart disease (CHD) diagnosis and evaluate the relationship between genetic variants and prenatal phenotypes. Methods A total of 235 fetuses with CHD were classified into three groups: A: isolated simple CHD, B: isolat...

Jie-Qiong Xie, Yan-Ru Huang, Xing-Mei Yao et al. · 0 citations

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