title: Copy Number Variants and Congenital Anomalies Surveillance: A Suggested Coding Strategy Using the Royal College of Paediatrics and Child Health Version of ICD-10.
abstract: The use of array-based comparative genomic hybridization to assess DNA copy number is increasing in many jurisdictions. Such technology identifies more genetic causes of congenital anomalies; however, the clinical significance of some results may be challenging to interpret. A coding strategy to address cases with copy number variants has recently been implemented by the Alberta Congenital Anomalies Surveillance System and is described.
authors.forename: Tanya
authors.initials: T
authors.lastname: Bedard
authors.forename: R Brian
authors.initials: RB
authors.lastname: Lowry
authors.forename: Barbara
authors.initials: B
authors.lastname: Sibbald
authors.forename: Mary Ann
authors.initials: MA
authors.lastname: Thomas
authors.forename: A Micheil
authors.initials: AM
authors.lastname: Innes
mesh_terms: D000416:Alberta / Q000453:epidemiology; D055028:Comparative Genomic Hybridization; D000013:Congenital Abnormalities / Q000453:epidemiology*; D056915:DNA Copy Number Variations; D006801:Humans; D007231:Infant, Newborn; D038801:International Classification of Diseases; D011159:Population Surveillance; D012042:Registries; D014798:Vital Statistics