Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.

ABSTRACT: Congenital diaphragmatic hernia (CDH) is a relatively common major life-threatening birth defect that results in significant mortality and morbidity depending primarily on lung hypoplasia, persistent pulmonary hypertension, and cardiac dysfunction. Despite its clinical relevance, CDH multifactorial etiology is still not completely understood. We reviewed current knowledge on normal diaphragm development and summarized genetic mutations and related pathways as well as cellular mechanisms involved in CDH. Our literature analysis showed that the discovery of harmful de novo variants in the fetus could constitute an important tool for the medical team during pregnancy, counselling, and childbirth. A better insight into the mechanisms regulating diaphragm development and genetic causes leading

SUBMITTER: Cannata G 

PROVIDER: S-EPMC8231903 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature