{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T15:46:38Z","timestamp":1778773598153,"version":"3.51.4"},"reference-count":246,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,6,14]],"date-time":"2021-06-14T00:00:00Z","timestamp":1623628800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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 to CDH appeared essential to the development of new therapeutic strategies and evidence-based genetic counselling to parents. Integrated sequencing, development, and bioinformatics strategies could direct future functional studies on CDH; could be applied to cohorts and consortia for CDH and other birth defects; and could pave the way for potential therapies by providing molecular targets for drug discovery.<\/jats:p>","DOI":"10.3390\/ijms22126353","type":"journal-article","created":{"date-parts":[[2021,6,14]],"date-time":"2021-06-14T10:30:25Z","timestamp":1623666625000},"page":"6353","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics"],"prefix":"10.3390","volume":"22","author":[{"given":"Giulia","family":"Cannata","sequence":"first","affiliation":[{"name":"Pediatric Clinic, Pietro Barilla Children\u2019s Hospital, University of Parma, Via Gramsci 14, 43126 Parma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Caporilli","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Pietro Barilla Children\u2019s Hospital, University of Parma, Via Gramsci 14, 43126 Parma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Grassi","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Pietro Barilla Children\u2019s Hospital, University of Parma, Via Gramsci 14, 43126 Parma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serafina","family":"Perrone","sequence":"additional","affiliation":[{"name":"Neonatology Unit, Pietro Barilla Children\u2019s Hospital, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanna","family":"Esposito","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Pietro Barilla Children\u2019s Hospital, University of Parma, Via Gramsci 14, 43126 Parma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.resp.2013.04.015","article-title":"Current concepts on the pathogenesis and etiology of congenital diaphragmatic hernia","volume":"189","author":"Greer","year":"2013","journal-title":"Respir. 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