Contribution of single‐gene defects to congenital cardiac left‐sided lesions in the prenatal setting

Abstract excerpt

OBJECTIVES: To explore the contribution of single-gene defects to the genetic cause of cardiac left-sided lesions (LSLs), and to evaluate the incremental diagnostic yield of whole-exome sequencing (WES) for single-gene defects in fetuses with LSLs without aneuploidy or a pathogenic copy-number variant (pCNV). METHODS: Between 10 April 2015 and 30 October 2018, we recruited 80 pregnant women diagnosed with a LSL...

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