{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T09:12:28Z","timestamp":1792660348064,"version":"4.5.0"},"reference-count":35,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T00:00:00Z","timestamp":1386201600000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Esophageal atresia with\/without trachea\u2010esophageal fistula (EA\/TEF) denotes a spectrum of severe congenital malformations. The aim of this systematic study was to determine both the recurrence risk for EA\/TEF, and the risk for malformations of the VATER\/VACTERL association spectrum, in first\u2010degree relatives of patients with isolated EA\/TEF.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>A total of 108 unrelated patients with isolated EA\/TEF were included. These individuals had 410 first\u2010degree relatives including 194 siblings. The presence of EA\/TEF and malformations of the VATER\/VACTERL association spectrum in relatives was systematically assessed. Data from the EUROCAT network were used for comparison.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>None of the first\u2010degree relatives displayed any form of EA\/TEF. In two families, a first\u2010degree relative presented with malformations from the VATER\/VACTERL association spectrum. However, no increase in the risk for malformations of the VATER\/VACTERL association spectrum was found compared with the control cohort (<jats:italic>p<\/jats:italic>\u2009=\u20090.87). In three families, one more distantly related relative presented with EA\/TEF.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>In contrast to previous studies, our results suggest a very low recurrence risk for isolated EA\/TEF and\/or for malformations of the VATER\/VACTERL association spectrum among first\u2010degree relatives. <jats:italic>Birth Defects Research (Part A), 97:786\u2013791, 2013<\/jats:italic>. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23205","type":"journal-article","created":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T05:31:12Z","timestamp":1386221472000},"page":"786-791","source":"Crossref","is-referenced-by-count":14,"title":["Second study on the recurrence risk of isolated esophageal atresia with or without trachea\u2010esophageal fistula among first\u2010degree relatives: No evidence for increased risk of recurrence of EA\/TEF or for malformations of the VATER\/VACTERL association spectrum"],"prefix":"10.1002","volume":"97","author":[{"given":"Vera","family":"Choinitzki","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Zwink","sequence":"additional","affiliation":[{"name":"Division of Clinical Epidemiology and Aging Research German Cancer Research Center Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrika","family":"Bartels","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friederike","family":"Baudisch","sequence":"additional","affiliation":[{"name":"Division of Clinical Epidemiology and Aging Research German Cancer Research Center Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas M.","family":"Boemers","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery and Urology University Hospital Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"H\u00f6lscher","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery and Urology University Hospital Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salmai","family":"Turial","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery University Hospital Mainz Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haitham","family":"Bachour","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery University Hospital Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Heydweiller","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery University Hospital Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"Kurz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery University Hospital Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bartmann","sequence":"additional","affiliation":[{"name":"Department of Neonatology Children's Hospital, University of Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Pauly","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Asklepios Children's Hospital St. Augustin St. Augustin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Brokmeier","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Asklepios Children's Hospital St. Augustin St. Augustin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Leutner","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Medical Center Dortmund Dortmund Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus M.","family":"N\u00f6then","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life and Brain Center University of Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Schumacher","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life and Brain Center University of Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekkehart","family":"Jenetzky","sequence":"additional","affiliation":[{"name":"Division of Clinical Epidemiology and Aging Research German Cancer Research Center Heidelberg Germany"},{"name":"Department of Child and Adolescent Psychiatry and Psychotherapy Johannes\u2010Gutenberg University Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heiko","family":"Reutter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Neonatology Children's Hospital, University of Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990702)85:1<31::AID-AJMG7>3.0.CO;2-D"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/383407a0"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(99)90231-2"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.1.1"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.2350\/10-02-0797-OA.1"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.68.6.743"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1258\/rsmsmj.54.3.58e"},{"key":"e_1_2_6_9_1","unstructured":"EUROCAT European surveillance of congenital anomalies. EUROCAT. Available at:http:\/\/www.eurocat\u2010network.eu\/. Accessed October 30 2012."},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00798.x"},{"key":"e_1_2_6_11_1","volume-title":"Practical genetic counselling","author":"Harper PS","year":"2004"},{"key":"e_1_2_6_12_1","unstructured":"International Clearinghouse for Birth Defects. Available at:http:\/\/www.icbdsr.org\/page.asp?p=10065&l=1. Accessed December 27 2012."},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11894-010-0108-1"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)91731-5"},{"key":"e_1_2_6_15_1","unstructured":"KEKS e.V. Patienten\u2010 und Selbsthilfeorganisation f\u00fcr Kinder und Erwachsene mit kranker Speiser\u00f6hre. Home. Available at:http:\/\/www.keks.org\/. Accessed October 29 2012."},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(83)80089-X"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/1717"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510206"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990312)83:2<117::AID-AJMG7>3.0.CO;2-4"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960628)63:4<525::AID-AJMG3>3.0.CO;2-N"},{"key":"e_1_2_6_21_1","unstructured":"NBDPN. National Birth Defects Prevention Network. Available at:http:\/\/www.nbdpn.org\/. Accessed December 15 2012."},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003830000435"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390403"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80024-1"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.12.2763"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.10012"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0890-6238(93)90085-L"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.22879"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.038158"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-24"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00389459"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80113-7"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420520408"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286613"},{"key":"e_1_2_6_35_1","first-page":"463","article-title":"Congenital esophageal atresia","volume":"22","author":"Vogt EC","year":"1929","journal-title":"AJR Am J Roentgenol"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.5.338"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.23205","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.23205","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T21:23:13Z","timestamp":1696627393000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.23205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":35,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1002\/bdra.23205"],"URL":"https:\/\/doi.org\/10.1002\/bdra.23205","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}