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

Autor:	Charlotte Bendixen, Erwin Brosens, Wendy Kay Chung
Rok vydání:	2021
Předmět:	Counseling Karyotyping Pediatrics Perinatology and Child Health Humans Surgery Child Hernias Diaphragmatic Congenital
Zdroj:	European Journal of Pediatric Surgery. 31:472-481
ISSN:	1439-359X 0939-7248
DOI:	10.1055/s-0041-1740337
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd4cd3e9d918ab0a6e12a505da98712 https://doi.org/10.1055/s-0041-1740337 Zobrazit plný text záznamu