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Clinical and pre\u2010clinical studies suggest that genetic factors, in the mother or fetus, influence the phenotypic outcomes following PAE. The objectives of this study were to evaluate the prevalence and types of DNA copy number variants (CNVs) in children (0\u201318\u2009years) diagnosed with FASD and to identify genes known to be associated with neurodevelopmental disorders.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Chromosomal microarray (CMA) was performed in children diagnosed with FASD in the NSW CICADA FASD Service\u2014a state\u2010wide multidisciplinary diagnostic clinic in Australia. We performed a retrospective chart review of 175 patients diagnosed with FASD between 2015 and 2022 to obtain data on medical and family history, phenotype, and genotype. All CMA results were reviewed by a clinical geneticist.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A rare CNV was identified in 38 of 157 (24.2%) patients who had CMA testing and 40 unique CNVs were identified. In four patients, a neurodevelopmental susceptibility syndrome was identified including Xq28 microduplication syndrome, 16p12.2 microdeletion syndrome, 17q11.2 microduplication syndrome, and an atypical variant of 22q11.2 deletion syndrome. Two children had incidental pathogenic variants. In 32 of 38 (84.2%) cases with a rare CNV, 34 variants of unknown significance (VOUS) were identified, of which 13 encoded a total of 14 genes associated with common neurodevelopmental disorders. Three variants of uncertain significance (VOUS) encoded different subunits of the voltage\u2010dependent calcium channel complex protein (CACNB2, CACNA1A, CACNA2D3).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These novel results suggest that approximately one in four children diagnosed with FASD may harbor a rare CNV, of which 85.0% are currently of uncertain clinical significance. Genetic testing can support the FASD diagnostic process and may reveal additional diagnoses or sources of genetic vulnerability to FASD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/acer.70352","type":"journal-article","created":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T14:02:56Z","timestamp":1785765776000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State\u2010Wide Diagnostic Service"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-0092-605X","authenticated-orcid":false,"given":"Suzy","family":"Byrnes","sequence":"first","affiliation":[{"name":"Faculty of Medicine and Health, Specialty of Child and Adolescent Health The University of Sydney  Sydney New South Wales Australia"},{"name":"New South Wales (NSW) FASD Diagnostic Assessment Service, Centre for Care and Intervention for Children and Adolescents Affected by Drugs and Alcohol (CICADA) Sydney Children's Hospital Network (Westmead)  Westmead New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felicity","family":"Collins","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, Specialty of Child and Adolescent Health The University of Sydney  Sydney New South Wales Australia"},{"name":"Clinical Genetics Service, Clinical Genetics Department Royal Prince Alfred Hospital  Camperdown New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6501-5487","authenticated-orcid":false,"given":"Elizabeth","family":"Elliott","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, Specialty of Child and Adolescent Health The University of Sydney  Sydney New South Wales Australia"},{"name":"New South Wales (NSW) FASD Diagnostic Assessment Service, Centre for Care and Intervention for Children and Adolescents Affected by Drugs and Alcohol (CICADA) Sydney Children's Hospital Network (Westmead)  Westmead New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,3]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35672"},{"key":"e_1_2_9_3_1","first-page":"44","article-title":"High Facial Specificity and Positive Predictive Value Are Required to Diagnose Fetal Alcohol Syndrome When Prenatal Alcohol Exposure Is Unknown","volume":"7","author":"Astley Hemingway S. 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