{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:11:28Z","timestamp":1790806288622,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,7,14]],"date-time":"2023-07-14T00:00:00Z","timestamp":1689292800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The aim of this study was to describe the incidence of Congenital Diaphragmatic Hernia, CDH, associated with known or clinically suspected syndromes, and the postnatal outcomes from a large database for CDH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Data from the multicenter, multinational database on infants with CDH (Congenital Diaphragmatic Hernia Study Group Registry) born from 1996 to 2020 were analyzed. Patients with known or suspected syndromes were grouped and outcome data were analyzed and compared to those without syndromic features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 12,553 patients were entered in the registry during the study period, and 421 had reported known syndromes, representing 3.4% of all CDH cases in the registry. A total of 50 different associated syndromes were reported. In addition to those with clinically suspected genetic conditions, a total rate of genetic syndromes with CDH was 8.2%. The overall survival to discharge for syndromic CDH was 34% and for non\u2010syndromic CDH was 76.7%. The most common were syndromes Fryns syndrome (19.7% of all syndromes, 17% survival), trisomy 18 or Edward syndrome (17.5%, 9% survival), trisomy 21 or Down syndrome (9%, 47% survival), trisomy 13 or Patau syndrome (6.7%, 14% survival), Cornelia de Lange syndrome (6.4% of all syndromes, 22% survival) and Pallister\u2010Killian syndrome (5.5% of all syndromes, 39.1% survival). In addition, 379 cases had reported chromosomal anomalies and 233 cases had clinically suspected syndromes, based on two more dysmorphic features or malformations in addition to CDH, but without molecular diagnosis.<\/jats:p><jats:p>The syndromic CDH group had lower birth weight and gestational age at birth and increased incidence of bilateral CDH (2.9%) and rates of non\u2010repair (53%). The length of hospital stay was longer, and larger number of patients needed O<jats:sub>2<\/jats:sub> at 30\u00a0days. Extracorporeal life support was used only in 15% of the cases. Those who underwent surgical repair had survival to discharge rates of 73%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Syndromic CDH is rare and only 3.4% of the reported cases of CDH have a known syndrome or association, but, if including patients with two dysmorphic features malformations, in addition to CDH, altogether as many as 8.2% have a diagnosed or suspected genetic condition. These children have with lower survival rates. Given higher rates of non\u2010repair and decreased extracorporeal life support use, along with a high early mortality, decision\u2010making regarding goals of care clearly influences outcomes. Survival varies depending on the genetic cause. Early genetic diagnosis is important and may influence the decision\u2010making.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6407","type":"journal-article","created":{"date-parts":[[2023,7,7]],"date-time":"2023-07-07T15:33:55Z","timestamp":1688744035000},"page":"1265-1273","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5223-1909","authenticated-orcid":false,"given":"Carmen Mesas","family":"Burgos","sequence":"first","affiliation":[{"name":"Department of Pediatric Surgery Karolinska University Hospital  Stockholm Sweden"},{"name":"Department of Women's and Children's Health Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikas S.","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery McGovern Medical School at UT Health and Children's Memorial Hermann Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Conner","sequence":"additional","affiliation":[{"name":"Department of Women's and Children's Health Karolinska Institutet  Stockholm Sweden"},{"name":"Center for Fetal Medicine Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bj\u00f6rn","family":"Frenckner","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Karolinska University Hospital  Stockholm Sweden"},{"name":"Department of Women's and Children's Health Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin P.","family":"Lally","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery McGovern Medical School at UT Health and Children's Memorial Hermann Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley H.","family":"Ebanks","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery McGovern Medical School at UT Health and Children's Memorial Hermann Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew T.","family":"Harting","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery McGovern Medical School at UT Health and Children's Memorial Hermann Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"For The Congenital Diaphragmatic Hernia Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,14]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"BielinskaM JayPY ErlichJM et\u00a0al.Pediatric 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