Review of Diagnostic Yields Obtained on Clinical Prenatal WES Cases

BACKGROUND

• The American College of Medical Genetics and Genomics (ACMG) recommends whole exome sequencing (WES) as a first-tier test for pediatric findings with a suspected genetic bases
• Prenatal WES captures variants that standard-of-care prenatal testing methods, such as karyotype and chromosomal microarray, would miss
• Information on the diagnostic yield of prenatal WES is more limited, and provider familiarity with prenatal WES varies considerably
• We describe a review of the diagnostic yield for a prenatal WES cohort tested through our laboratory