Bedard Tanya, Lowry R Brian, Sibbald Barbara, Thomas Mary Ann, Innes A Micheil
J Registry Manag. 2016 Spring;43(1):6-9.
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.