Diagnostic Yield of Genome Sequencing for Children with Congenital Anomalies in the Absence of Neurodevelopmental Indications

Introduction

• Genome sequencing (GS) and exome sequencing (ES) have become key clinical diagnostic tools for individuals with congenital anomalies, and the American College of Medical Genetics and Genomics has recommended GS/ES as a first-tier test for children with congenital anomalies since 2021.
• Although the utility of GS/ES have been demonstrated across clinical settings, most of the existing literature involves pediatric cohorts with congenital anomalies that also have some degree of neurodevelopmental phenotype or infants with congenital anomalies in which neurodevelopmental phenotypes may not have been observed at the time of testing.
• Therefore, data regarding the utility of GS for individuals with congenital anomalies in the absence of neurodevelopmental indications is limited.