Clinical utility of prenatal exome sequencing: Insights from a 10-year cohort

Presenting Author: Brooklynn Gasser, MS

Take home points: 

1. The study demonstrates the clinical utility of prenatal exome sequencing (ES) in diagnosing genetic disorders in fetuses and products of conception, achieving an overall diagnostic rate of 29%, consistent with rates seen in postnatal cases.
2. Prenatal ES emerges as a valuable diagnostic tool for diverse genetic diagnoses even with the limitations of prenatal phenotyping.