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

Author:

Bendixen Charlotte1ORCID,Brosens Erwin2,Chung Wendy Kay34

Affiliation:

1. Department of General, Visceral, Vascular and Thoracic Surgery, Unit of Pediatric Surgery, Universitätsklinikum Bonn, Bonn, Germany

2. Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands

3. Department of Medicine, Columbia University Irving Medical Center, New York, United States

4. Department of Pediatrics, Columbia University Irving Medical Center, New York, United States

Abstract

AbstractCongenital 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.

Funder

Rheinische Friedrich-Wilhelms-Universität Bonn

Publisher

Georg Thieme Verlag KG

Subject

Surgery,Pediatrics, Perinatology and Child Health

Reference187 articles.

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3. Congenital diaphragmatic hernias: from genes to mechanisms to therapies;G Kardon;Dis Model Mech,2017

4. Associated malformations in cases with congenital diaphragmatic hernia;C Stoll;Genet Couns,2008

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