Exome & General Genetics

Session # P768

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

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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.

  • Authors: Brooklynn Gasser; Meghan C. Towne; Adelina Batcheva; Melissa Holman; Christina Alamillo
  • Conference: ACMG 2024
  • Date: Friday, Mar 15, 2024 10:30am - 12:00pm
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