{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T21:08:48Z","timestamp":1792012128084,"version":"4.4.0"},"reference-count":29,"publisher":"BMJ","issue":"1","license":[{"start":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T00:00:00Z","timestamp":1675036800000},"content-version":"unspecified","delay-in-days":29,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000865","name":"Bill and Melinda Gates Foundation","doi-asserted-by":"publisher","award":["INV-006966"],"award-info":[{"award-number":["INV-006966"]}],"id":[{"id":"10.13039\/100000865","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2023,1,9]]},"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To examine the potential for bias in the estimate of under-5 mortality due to birth defects recently produced by the WHO and the Maternal and Child Epidemiology Estimation research group.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Systematic analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We examined the estimated number of under-5 deaths due to birth defects, the birth defect specific under-5 mortality rate, and the per cent of under-5 mortality due to birth defects, by geographic region, national income and under-5 mortality rate for three age groups from 2000 to 2019.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The under-5 deaths per 1000 live births from birth defects fell from 3.4 (95% uncertainty interval (UI) 3.1\u20133.8) in 2000 to 2.9 (UI 2.6\u20133.3) in 2019. The per cent of all under-5 mortality attributable to birth defects increased from 4.6% (UI 4.1%\u20135.1%) in 2000 to 7.6% (UI 6.9%\u20138.6%) in 2019. There is significant variability in mortality due to birth defects by national income level. In 2019, the under-5 mortality rate due to birth defects was less in high-income countries than in low-income and middle-income countries, 1.3 (UI 1.2\u20131.3) and 3.0 (UI 2.8\u20133.4) per 1000 live births, respectively. These mortality rates correspond to 27.7% (UI 26.6%\u201328.8%) of all under-5 mortality in high-income countries being due to birth defects, and 7.4% (UI 6.7%\u20138.2%) in low-income and middle-income countries.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>While the under-5 mortality due to birth defects is declining, the per cent of under-5 mortality attributable to birth defects has increased, with significant variability across regions globally. The estimates in low-income and middle-income countries are likely underestimated due to the nature of the WHO estimates, which are based in part on verbal autopsy studies and should be taken as a minimum estimate. Given these limitations, comprehensive and systematic estimates of the mortality burden due to birth defects are needed to estimate the actual burden.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjopen-2022-067033","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T12:09:30Z","timestamp":1675080570000},"page":"e067033","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":48,"title":["Systematic estimates of the global, regional and national under-5 mortality burden attributable to birth defects in 2000\u20132019: a summary of findings from the 2020 WHO estimates"],"prefix":"10.1136","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5482-6620","authenticated-orcid":false,"given":"Jamie","family":"Perin","sequence":"first","affiliation":[{"name":"Department of International Health, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7300-0672","authenticated-orcid":false,"given":"Cara T","family":"Mai","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1869-5990","authenticated-orcid":false,"given":"Ayesha","family":"De Costa","sequence":"additional","affiliation":[{"name":"Department of Maternal, Newborn, Child and Adolescent Health, and Ageing, World Health Organization, Geneve, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8092-1955","authenticated-orcid":false,"given":"Kathleen","family":"Strong","sequence":"additional","affiliation":[{"name":"Department of Maternal, Newborn, Child and Adolescent Health, and Ageing, World Health Organization, Geneve, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5063-8078","authenticated-orcid":false,"given":"Theresa","family":"Diaz","sequence":"additional","affiliation":[{"name":"Department of Maternal, Newborn, Child and Adolescent Health, World Health Organization, Gen\u00e8ve, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1556-3159","authenticated-orcid":false,"given":"Hannah","family":"Blencowe","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Population Health, London School of Hygiene & Tropical Medicine, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7162-5046","authenticated-orcid":false,"given":"Robert J","family":"Berry","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1716-7005","authenticated-orcid":false,"given":"Jennifer L","family":"Williams","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3102-6708","authenticated-orcid":false,"given":"Li","family":"Liu","sequence":"additional","affiliation":[{"name":"Population, Family, and Reproductive Health, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,1,30]]},"reference":[{"key":"2025121515301031000_13.1.e067033.1","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1111\/apa.14566","article-title":"Attention difficulties and physical dysfunction common in children with complex congenital malformations: a study of preschool children with VACTERL association","volume":"109","author":"Kassa","year":"2020","journal-title":"Acta Paediatr"},{"key":"2025121515301031000_13.1.e067033.2","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/S2352-4642(21)00311-4","article-title":"Global, regional, and national causes of under-5 mortality in 2000-19: an updated systematic analysis with implications for the sustainable development goals","volume":"6","author":"Perin","year":"2022","journal-title":"Lancet Child Adolesc Health"},{"key":"2025121515301031000_13.1.e067033.3","unstructured":"World Health Assembly . Sixty-third world health assembly -resolution 63.17. birth defects vol 2014. 2010. Available: https:\/\/apps.who.int\/gb\/ebwha\/pdf_files\/WHA63-REC1\/WHA63_REC1-en.pdf"},{"key":"2025121515301031000_13.1.e067033.4","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1007\/s12687-018-0390-4","article-title":"Congenital disorders: epidemiological methods for answering calls for action","volume":"9","author":"Modell","year":"2018","journal-title":"J Community Genet"},{"key":"2025121515301031000_13.1.e067033.5","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1002\/bdr2.1578","article-title":"The impact of the ICD-9-CM to ICD-10-CM transition on the prevalence of birth defects among infant hospitalizations in the United States","volume":"111","author":"Salemi","year":"2019","journal-title":"Birth Defects Res"},{"key":"2025121515301031000_13.1.e067033.6","unstructured":"Christianson A , Howson CP , Modell B . March of dimes. Global report on birth defect. 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