{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T03:50:52Z","timestamp":1787197852074,"version":"build-2736575974"},"reference-count":40,"publisher":"Wiley","issue":"18","license":[{"start":{"date-parts":[[2020,7,22]],"date-time":"2020-07-22T00:00:00Z","timestamp":1595376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The VACTERL association (VACTERL) includes at least three of these congenital anomalies: vertebral, anal, cardiac, trachea\u2010esophageal, renal, and limb anomalies. Assisted reproductive techniques (ART), pregestational diabetes mellitus, and chronic lower obstructive pulmonary disorders (CLOPD) have been associated with VACTERL. We aimed to replicate these findings and were interested in additional maternal risk factors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A case\u2013control study using self\u2010administered questionnaires was performed including 142 VACTERL cases and 2,135 population\u2010based healthy controls. Multivariable logistic regression analyses were performed to estimate confounder adjusted odds ratios (aOR) and 95% confidence intervals (95%CI).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Parents who used invasive ART had an increased risk of VACTERL in offspring (aOR 4.4 [95%CI 2.1\u20138.8]), whereas the increased risk for mothers with CLOPD could not be replicated. None of the case mothers had pregestational diabetes mellitus. Primiparity (1.5 [1.1\u20132.1]) and maternal pregestational overweight and obesity (1.8 [1.2\u20132.8] and 1.8 [1.0\u20133.4]) were associated with VACTERL. Consistent folic acid supplement use during the advised periconceptional period may reduce the risk of VACTERL (0.5 [0.3\u20131.0]). Maternal smoking resulted in an almost twofold increased risk of VACTERL.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We identified invasive ART, primiparity, pregestational overweight and obesity, lack of folic acid supplement use, and smoking as risk factors for VACTERL.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1773","type":"journal-article","created":{"date-parts":[[2020,7,23]],"date-time":"2020-07-23T06:09:00Z","timestamp":1595484540000},"page":"1495-1504","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Maternal risk associated with the<scp>VACTERL<\/scp>association: A case\u2013control study"],"prefix":"10.1002","volume":"112","author":[{"given":"Romy","family":"van de Putte","sequence":"first","affiliation":[{"name":"Department for Health Evidence, Radboud Institute for Health Sciences Radboud university medical center (Radboudumc) Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermien E. K.","family":"de Walle","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Groningen University of Groningen Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten J. M.","family":"van Hooijdonk","sequence":"additional","affiliation":[{"name":"Department for Health Evidence, Radboud Institute for Health Sciences Radboud university medical center (Radboudumc) Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivo","family":"de Blaauw","sequence":"additional","affiliation":[{"name":"Department for Pediatric Surgery Radboudumc Amalia Children's Hospital Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo L. M.","family":"Marcelis","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud Institute for Molecular Life Sciences Radboudumc Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arno","family":"van Heijst","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2013 Neonatology Radboudumc Amalia Children's Hospital Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques C.","family":"Giltay","sequence":"additional","affiliation":[{"name":"Division Laboratories, Pharmacy and Biomedical Genetics University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten Y.","family":"Renkema","sequence":"additional","affiliation":[{"name":"Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht Utrecht University Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul M. A.","family":"Broens","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Pediatric Surgery, University Medical Center Groningen University of Groningen Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8235-4010","authenticated-orcid":false,"given":"Erwin","family":"Brosens","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Centre Rotterdam the Netherlands"},{"name":"Department of Pediatric Surgery Erasmus Medical Centre Sophia Children's Hospital Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelius E. J.","family":"Sloots","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Erasmus Medical Centre Sophia Children's Hospital Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3929-3619","authenticated-orcid":false,"given":"Jorieke E. H.","family":"Bergman","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Groningen University of Groningen Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nel","family":"Roeleveld","sequence":"additional","affiliation":[{"name":"Department for Health Evidence, Radboud Institute for Health Sciences Radboud university medical center (Radboudumc) Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris A. L. M.","family":"van Rooij","sequence":"additional","affiliation":[{"name":"Department for Health Evidence, Radboud Institute for Health Sciences Radboud university medical center (Radboudumc) Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30004"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441773"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-2115(98)00061-X"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20563"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1008095"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00228-007-0446-6"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.22889"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23550"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-012-3073-y"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23500"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.03.008"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-016-3543-x"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1989.03430200091032"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)90133-A"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1590\/0102-311X00115813"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2007.11.021"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.j2563"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.09.007"},{"issue":"1","key":"e_1_2_9_20_1","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1159\/000345300","article-title":"VATER\/VACTERL association: Evidence for the role of genetic factors","volume":"4","author":"Reutter H.","year":"2013","journal-title":"Mol Syndromol"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.2857"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-014-1493-5"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-56"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35638"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0814-7"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2009.113"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2018.04.021"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1159\/000360602"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80113-7"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1686"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41390-019-0561-y"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dew327"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23512"},{"issue":"3","key":"e_1_2_9_34_1","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1002\/bdra.20649","article-title":"Maternal and paternal risk factors for anorectal malformations: A Dutch case\u2013control study","volume":"88","author":"Rooij I. A.","year":"2010","journal-title":"Birth Defects Research. Part A, Clinical and Molecular Teratology"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2458-7-81"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30938"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471-0528.12235"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdrc.21068"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20529"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2016.1183640"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2018.09.116"}],"container-title":["Birth Defects Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdr2.1773","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.1773","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/bdr2.1773","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.1773","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T16:44:34Z","timestamp":1723308274000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdr2.1773"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,22]]},"references-count":40,"journal-issue":{"issue":"18","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1002\/bdr2.1773"],"URL":"https:\/\/doi.org\/10.1002\/bdr2.1773","archive":["Portico"],"relation":{},"ISSN":["2472-1727","2472-1727"],"issn-type":[{"value":"2472-1727","type":"print"},{"value":"2472-1727","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,22]]},"assertion":[{"value":"2020-05-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}