[High-throughput exome sequencing in prenatal diagnosis : indications, benefits, and limitations]

Whole exome sequencing (WES), used in semi-routine practice, has markedly improved the prenatal molecular diagnosis of fetal anomalies detected by ultrasound. This synthesis outlines the proposed patient management and emphasizes the need for an individualized, multidisciplinary evaluation centered on the couple or pregnant woman. WES interrogates the coding regions of the genome, where most variants responsible for Mendelian disorders are concentrated, but it has technical and interpretive limitations. Its indication should remain targeted and be preceded and followed by rigorous genetic counseling, in order to ensure high-quality clinical and decision-making support and to avoid a medicine of uncertainty.