Author

Yan-Ru Huang

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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. · Journal of clinical laborato... · 0 citations

Open access Sep 2026

Preimplantation genetic testing for concurrent Meckel Syndrome and hereditary breast cancer in a Chinese family harboring a novel NPHP3 pathogenic variant and a canonical BRCA2 frameshift variant

This case indicates that PGT-M is a viable option for NPHP3-related MKS and BRCA-positive patients to avoid transmission while maintaining their families, and successful application of PGT-M provides a potential approach for treating other monogenic diseases.

Yi-Yuan Zhang, Xian-Jing Huang, Ping-Ping Qiu et al. · Genetics and Molecular Biolo... · 0 citations