Genetic Diagnostic Strategies and Counseling for Families Affected by Congenital Diaphragmatic Hernia

Charlotte Bendixen*, Erwin Brosens, Wendy Kay Chung

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

2 Citations (Scopus)

Abstract

Congenital diaphragmatic hernia (CDH) is a relatively common and severe birth defect with variable clinical outcome and associated malformations in up to 60% of patients. Mortality and morbidity remain high despite advances in pre-, intra-, and postnatal management. We review the current literature and give an overview about the genetics of CDH to provide guidelines for clinicians with respect to genetic diagnostics and counseling for families. Until recently, the common practice was (molecular) karyotyping or chromosome microarray if the CDH diagnosis is made prenatally with a 10% diagnostic yield. Undiagnosed patients can be reflexed to trio exome/genome sequencing with an additional diagnostic yield of 10 to 20%. Even with a genetic diagnosis, there can be a range of clinical outcomes. All families with a child with CDH with or without additional malformations should be offered genetic counseling and testing in a family-based trio approach.

Original languageEnglish
Pages (from-to)472-481
Number of pages10
JournalEuropean Journal of Pediatric Surgery
Volume31
Issue number6
DOIs
Publication statusPublished - 1 Dec 2021

Bibliographical note

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© 2021 American Institute of Physics Inc.. All rights reserved.

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