fbpx
You Are Reading

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

0
Uncategorized

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

Eur J Pediatr Surg

. 2021 Dec;31(6):472-481. doi: 10.1055/s-0041-1740337. Epub 2021 Dec 15. https://pubmed.ncbi.nlm.nih.gov/34911129/

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

Charlotte Bendixen 1Erwin Brosens 2Wendy Kay Chung 3 4Affiliations expand

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.

cuevana 3

Follow @ Instagram

Translate »

TasteKid.com provides Menu of different Restaurant. Now get all Restaurant Menu, Prices, Catering, Near Me locations, Open Hours. You can quickly find Near me Restaurants around your place.

123 movies soap2day