Comprehensive evaluation of genetic variants in fetuses with congenital heart defect using chromosomal microarray analysis and exome sequencing.
F QiaoY WangC ZhangR ZhouY WuC WangL MengP MaoQ ChengC LuoP HuZhengfeng XuPublished in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2020)
Our study shows that CNVs and sequence variants are identified in 16.7% of cases and 6.7% of cases respectively. ES should be offered to all CHD fetuses without chromosomal abnormalities and pathogenic CNVs, regardless of whether it is isolated or combined with other ultrasound anomalies. This article is protected by copyright. All rights reserved.
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