K Taylor Wild, Laura Conlin, Justin Blair, Michael Manfredi, Thomas E Hamilton, Amanda Muir, Elaine H Zackai, Gary Nace, Emily A Partridge, Matt Devine, Tom Reynolds, Natalie E Rintoul, Holly L Hedrick, Nancy Spinner, Ian D Krantz
OBJECTIVE: To evaluate genetic testing utilization and diagnostic yield in infants with esophageal atresia (EA)/tracheoesophageal fistula (TEF) over the past 12 years to inform future practices and individualize prognostication and management. STUDY DESIGN: A retrospective cohort study was performed for all infants with EA or EA/TEF hospitalized between January 2011 and January 2023 at a quaternary children's hospital. For each infant, demographic information, prenatal and postnatal history, and genetic testing were reviewed...
April 17, 2024: Journal of Pediatrics