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The aim of the present study was to establish the prevalence of the 22q11.2 deletion in an unselected population\u2010based cohort of children with various cardiovascular malformations. The study population was defined as children born in 2000\u20132008 who were registered in the Danish National Patient Registry with a diagnosis of cardiovascular malformation from one of the two national departments of pediatric cardiology. Sensitive multiplex ligation\u2010dependent probe amplification was performed on dried blood spot samples from each individual's neonatal screening test. Of 2,952 children with cardiovascular malformations, 2,478 were eligible for genetic testing. A total of 46 individuals (1.9% [1.4\u20132.5%]) carried the deletion, with the highest prevalence among individuals registered with interrupted aortic arch (22% [11\u201340]). The most frequent diagnoses among individuals carrying the deletion were tetralogy of Fallot (n\u2009=\u200915) and ventricular septal defect (n\u2009=\u200915). One in four cases had not been diagnosed in the usual clinical setting. The prevalence of 22q11.2 deletions in an unselected population\u2010based cohort of children with cardiac malformations was 1.9% [1.4\u20132.5%]. Genetic testing of every individual registered with a conotruncal malformation would have achieved a diagnostic sensitivity of 70% in the present cohort. Prospective studies outlining testing recommendations in children with ventricular septal defect are warranted. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34250","type":"journal-article","created":{"date-parts":[[2011,12,21]],"date-time":"2011-12-21T16:56:08Z","timestamp":1324486568000},"page":"498-508","source":"Crossref","is-referenced-by-count":41,"title":["The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. 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