{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T18:43:27Z","timestamp":1781635407554,"version":"3.54.5"},"reference-count":38,"publisher":"Wiley","issue":"18","license":[{"start":{"date-parts":[[2017,9,19]],"date-time":"2017-09-19T00:00:00Z","timestamp":1505779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Health Resources and Services Administration of the U.S. Department of Health and Human Services","award":["B04MC25374"],"award-info":[{"award-number":["B04MC25374"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital diaphragmatic hernia (CDH) is a relatively frequent and severe malformation. Population\u2010based data on clinical presentation and associated mortality are scarce. We examined a state\u2010wide cohort of infants with a clinically validated diagnosis of CDH to assess their clinical profile, sociodemographic patterns, and infant mortality.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We identified CDH cases from Utah's statewide population\u2010based surveillance program among the cohort of all pregnancy outcomes (live births, stillbirths, and pregnancy terminations) delivered from 1999 to 2011. Clinical geneticists reviewed all cases and classified them based on etiology (known, unknown), and whether they were isolated, multiple (additional unrelated major malformations or unique minor malformation), or syndromic (genetic, chromosomal).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>CDH occurred in 1 in 3156 births (227\/718,990, or 3.17 per 10,000), with no time trend during the 13 years (<jats:italic>p<\/jats:italic> = 0.85). CDH was much more common in males (male to female ratio, 1.72:1; <jats:italic>p<\/jats:italic> &lt; 0.01). Clinically, 64% of the cases were isolated, 23% were multiples, and 13% were syndromic. Most cases were live born (90%), with fewer stillbirths (7%) and pregnancy terminations (3%). Overall infant mortality was 32.5%, and varied considerably by underlying etiology (isolated 21%; multiple 44%; syndromic 82%). Prognosis was related to specific clinical findings within each etiologic group (e.g., prematurity, low Apgar score, and intrathoracic liver).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This information on specific clinical and etiologic factors associated with prognosis can help clinicians and parents in the complex discussions about care planning and management that often occur in a crisis situation, following the diagnosis of CDH, whether prior or after delivery. Birth Defects Research 109:1451\u20131459, 2017.\u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1106","type":"journal-article","created":{"date-parts":[[2017,9,19]],"date-time":"2017-09-19T11:10:55Z","timestamp":1505819455000},"page":"1451-1459","source":"Crossref","is-referenced-by-count":82,"title":["Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population\u2010Based Cohort Study in Utah"],"prefix":"10.1002","volume":"109","author":[{"given":"Hari","family":"Shanmugam","sequence":"first","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Brunelli","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics University of Nebraska and Children's Hospital Medical Center Omaha 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