Eur J Pediatr Surg 2021; 31(06): 472-481
DOI: 10.1055/s-0041-1740337
Review Article

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

1   Department of General, Visceral, Vascular and Thoracic Surgery, Unit of Pediatric Surgery, Universitätsklinikum Bonn, Bonn, Germany
Erwin Brosens
2   Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands
Wendy Kay Chung
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
› Author Affiliations
Funding Rheinische Friedrich-Wilhelms-Universität Bonn. Bonfor grant number O-112.0062


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.

Publication History

Received: 25 October 2021

Accepted: 01 November 2021

Publication Date:
15 December 2021 (online)

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