P250: Survey of perinatal genetic testing perspectives for congenital diaphragmatic hernia amongst Children's Neonatal Hospital Consortium

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Zachary Whitt, DonnaMaria E. Cortezzo, Sarah D. Keene, Katherine Taylor Wild, Michelle Yang, Katrin C. Lichtsinn, Syed Zaryab Ahmed, Mihai Puia‐Dumitrescu, Kelsey Montgomery, Sharada Hiranya Gowda, David J. McCulley, Sandy Johng
DOI: 10.1016/j.gimo.2026.103744
Cited by: 0

Abstract

Congenital diaphragmatic hernia (CDH) is diagnosed prenatally in up to 70% of cases. Current literature suggests that 20–32% of individuals with CDH have an identifiable genetic diagnosis. There is still significant variation in genetic testing utilization without generalized consensus on this specific major congenital defect. This project aims to determine the current practices regarding genetic testing for fetuses and neonates with CDH amongst level IV Neonatal Intensive Care Units (NICUs) in the Children's Hospital Neonatal Consortium (CHNC).

Fields of Study & Subjects

Congenital Diaphragmatic Hernia Studies Prenatal Screening and Diagnostics Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103744–103744
Publication date
1 January 2026
Language
EN