{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T13:27:13Z","timestamp":1772198833314,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,6,21]],"date-time":"2016-06-21T00:00:00Z","timestamp":1466467200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>The South Australian Birth Defects Register (SABDR) has collected the date of diagnosis of notified birth defects since the 2005 birth year cohort. This study aims to document the age at diagnosis for each of the main diagnostic categories of birth defects, to produce a profile of when defects are diagnosed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Deidentified data were extracted from the SABDR for birth years 2005 to 2007. Each birth defect was assigned to a mutually exclusive date of diagnosis category (termination\/stillbirth; neonatal [birth\u201328 days]; 1 month\u20131 year; 1\u20132 years; 2\u20133 years; 3\u20134 years; 4\u20135 years; unspecified). Each defect was also grouped according to the International Classification of Diseases Ninth edition\u2013British Paediatric Association major diagnostic categories (nervous, cardiovascular, respiratory, gastrointestinal, urogenital, musculoskeletal, chromosomal, metabolic, hematological\/immune, other).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>There were 6419 defects identified in 3676 individuals, and 98.6% of defects had a diagnosis date recorded. Terminations of pregnancy\/stillbirths accounted for 20.3% of defects notified, and a further 46.7% of defects were diagnosed within the neonatal period. A total of 81.5% of defects were diagnosed by 1 year of age. An additional 17.2% of defects were diagnosed between the ages of 1 and 5 years. There were wide differences in age at diagnosis between the major diagnostic categories.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study highlights the value of birth defect registers collecting information about birth defects from terminations of pregnancy, stillbirths, and live births up to a child's fifth birthday. Reviewing diagnosis date provides insight into the pattern of diagnosis of different birth defects. This provides valuable information to medical specialists and researchers regarding the interpretation of information from birth defect data collections. Birth Defects Research (Part A) 106:761\u2013766, 2016. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23534","type":"journal-article","created":{"date-parts":[[2016,6,21]],"date-time":"2016-06-21T08:42:58Z","timestamp":1466498578000},"page":"761-766","source":"Crossref","is-referenced-by-count":8,"title":["Age range for inclusion affects ascertainment by birth defects registers"],"prefix":"10.1002","volume":"106","author":[{"given":"Catherine S.","family":"Gibson","sequence":"first","affiliation":[{"name":"South Australian Birth Defects Register Women's and Children's Hospital Adelaide Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather","family":"Scott","sequence":"additional","affiliation":[{"name":"South Australian Birth Defects Register Women's and Children's Hospital Adelaide Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Haan","sequence":"additional","affiliation":[{"name":"South Australian Clinical Genetics Service SA Pathology Adelaide Australia"},{"name":"School of Paediatrics and Reproductive Health University of Adelaide  Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy","family":"Scheil","sequence":"additional","affiliation":[{"name":"School of Paediatrics and Reproductive Health University of Adelaide  Australia"},{"name":"Pregnancy Outcome Unit, Epidemiology Branch SA Health Adelaide Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,6,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20658"},{"key":"e_1_2_6_3_1","first-page":"220","volume-title":"British Paediatric Association Classification of Diseases (in two volumes)"},{"key":"e_1_2_6_4_1","first-page":"CD007950","article-title":"Effects and safety of periconceptional folate supplementation for preventing birth defects","volume":"10","author":"De\u2010Regil LM","year":"2010","journal-title":"Cochrane Database Syst Rev"},{"key":"e_1_2_6_5_1","volume-title":"Prenatal screening for congenital anomalies in South Australia, 2011","author":"Gibson CS","year":"2014"},{"key":"e_1_2_6_6_1","volume-title":"Birth defects in South Australia 2011","author":"Gibson CS","year":"2015"},{"key":"e_1_2_6_7_1","unstructured":"International Clearinghouse for Birth Defects Surveillance and Research Annual Report 2012.2014. Published by the Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Rome: International Clearinghouse for Birth Defects Surveillance and Research."},{"key":"e_1_2_6_8_1","first-page":"CD001056","article-title":"Periconceptional supplementation with folate and\/or multivitamins for preventing neural tube defects","volume":"3","author":"Lumley J","year":"2001","journal-title":"Cochrane Database Syst Rev"},{"key":"e_1_2_6_9_1","volume-title":"Neural tube defects in Australia: prevalence before mandatory folic acid fortification. Cat. no. PER 53","author":"Macaldowie A","year":"2011"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.annepidem.2009.01.016"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)90133-A"}],"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.23534","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.23534","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T04:18:21Z","timestamp":1696652301000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.23534"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,21]]},"references-count":10,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1002\/bdra.23534"],"URL":"https:\/\/doi.org\/10.1002\/bdra.23534","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,21]]}}}