{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:15:07Z","timestamp":1787015707568,"version":"build-2736575974"},"reference-count":60,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To systematically review clinical and genetic testing approaches to VACTERL association, a non\u2010random co\u2010occurrence of congenital anomalies involving the vertebrae, anus, cardiac system, trachea\u2013oesophagus, renal system, and limbs. The review will examine investigation strategies used in clinical practice and evaluate the diagnostic yield of genetic testing in affected individuals.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A systematic search of PubMed, MEDLINE, EMBASE, Web of Science, and CINAHL was conducted from database inception to 1 December 2024. Eligible studies included English\u2010language human studies reporting genetic testing in individuals with VACTERL association. Grey literature and studies limited to management were excluded. Risk of bias and certainty of evidence were assessed using Joanna Briggs Institute tools and the Grading of Recommendations Assessment, Development, and Evaluation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 65 articles met inclusion criteria\u201432 observational studies, 20 case reports, 9 case series, and 4 expert opinions. Findings were tabulated and narratively synthesised. Reported diagnostic yields were 2%\u201331% for chromosomal microarrays and 5%\u201322% for whole\u2010exome sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Definitions of VACTERL and diagnostic approaches vary widely. Limitations of the evidence base include study heterogeneity, reliance on retrospective designs, outdated technologies, and lack of meta\u2010analyses. Prospective studies are needed to develop protocols. In the interim, imaging, complete blood count and film, chromosomal microarray, chromosomal breakage studies, and exome or genome sequencing should be considered for patients with two or more VACTERL features, or selected individuals with an isolated feature. This recommendation is based on the implications of a molecular diagnosis for management. Key diagnostic elements and differential diagnoses are summarised.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jpc.70278","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T12:18:20Z","timestamp":1767788300000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Systematic Review of Clinical and Genetic Approaches to\u00a0\n                    <scp>VACTERL<\/scp>\n                    Association"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-3905-4147","authenticated-orcid":false,"given":"Rachel","family":"Bowden","sequence":"first","affiliation":[{"name":"Sydney Children's Hospital Network and Royal Prince Alfred Hospital University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noelia Nunez","family":"Martinez","sequence":"additional","affiliation":[{"name":"Royal Prince Alfred Hospital, Westmead Hospital  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,7]]},"reference":[{"issue":"1","key":"e_1_2_12_2_1","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/S0022-3476(73)80024-1","article-title":"The VATER Association:\u2010Vertebral Defects,\u2010Anal Atresia,\u2010T\u2010Efistula With Esophageal Atresia,\u2010Radial And\u2010Renal Dysplasia: A Spectrum of Associated Defects","volume":"82","author":"Quan L.","year":"1973","journal-title":"Journal of Pediatrics"},{"issue":"5","key":"e_1_2_12_3_1","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1542\/peds.71.5.815","article-title":"A Population Study of the VACTERL Association: Evidence for Its Etiologic Heterogeneity","volume":"71","author":"Khoury M. 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