OC06.01: Single gene, gene panel and exome sequencing applied in structurally abnormal fetuses with a normal chromosomal microarray analysis.

To assess the diagnostic yield of different next generation sequencing (NGS) studies, single gene, gene panel or clinical exome sequencing in fetuses with structural anomalies and normal chromosomal microarray analysis (CMA). While single gene studies appear to have few indications, gene panels are useful in specific situations such as large echogenic kidneys (CAKUT panel) and persistent nuchal fold +/- hydrops (Noonan panel). [Extracted from the article]