Pathologic whole exome sequencing analysis in fetuses with minor sonographic abnormal findings and normal chromosomal microarray analysis: case series.

Background: No current data exists regarding the occurrence of pathological results when using Whole Exome Sequencing (WES) analysis in a subgroup of fetuses with minor abnormalities and normal Chromosomal Microarray Analysis (CMA) results.

Objective: Our study aimed to report our experience with in-utero WES abnormal results, found in fetuses with minor anomalies after a normal CMA result.

Methods: A retrospective study conducted in a single tertiary center, during four years, included collating data regarding fetuses with minor structural abnormalities, normal CMA results, and abnormal triple WES test results.