
A study investigates the genetic origins of fetuses with single atria and/or ventricles (SA or/and SV) in a Chinese prenatal cohort. Examining 44 cases through chromosomal microarray analysis (CMA), karyotyping, and whole exome sequencing (WES), the study reveals a 20.5% overall detection rate for pathogenic genetic results. CMA demonstrates a 13.6% detection rate for chromosomal abnormalities, with WES contributing an incremental diagnostic yield of 4.5%. The findings suggest WES is valuable for fetal prognosis assessment, offering diagnostic value in cases where CMA is negative, making it a valuable technique in prenatal cohort analysis.
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