title: Prenatal Array Comparative Genomic Hybridization in Fetuses With Structural Cardiac Anomalies.
abstract: To examine the diagnostic performance of array comparative genomic hybridization (CGH) for fetal cardiac anomalies in two medium-sized Canadian prenatal genetics clinics.
  
  
  
  We prospectively recruited 22 pregnant women with fetal structural cardiac anomalies, normal rapid aneuploidy detection, and FISH for 22q11.2 testing for array CGH analysis.
  
  
  
  One case had an 8p deletion that was also visible on karyotype and included the GATA4 gene, which has been associated with congenital heart disease. Two cases had inherited pathogenic copy number variants (CNVs) of variable expressivity and penetrance: one was a duplication of 16p11.2 and the other a deletion of 15q11.2. One case had the incidental finding of being a carrier of a recessive disease unrelated to the cardiac anomaly.
  
  
  
  Of these prospectively recruited cases of fetal cardiac anomalies, 14% had a pathogenic result on array CGH. Pathogenic CNVs of variable penetrance and expressivity were a significant proportion of the positive results identified. These CNVs are generally associated with neurodevelopmental issues and may or may not have been associated with the fetus' underlying congenital heart disease. Array CGH increases the diagnostic yield in this group of patients; however, certain CNVs remain a challenge for counselling in the prenatal setting.
authors: Department of Medical Genetics, University of Calgary, Calgary AB.
authors: Joanna
authors: J
authors: Lazier
authors: Department of Pediatrics, University of Calgary, Calgary AB; Section of Pediatric Cardiology, University of Calgary, Calgary AB.
authors: Deborah
authors: D
authors: Fruitman
authors: Department of Medical Genetics, University of Calgary, Calgary AB; Department of Pediatrics, University of Calgary, Calgary AB; Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary AB.
authors: Julie
authors: J
authors: Lauzon
authors: Department of Medical Genetics, University of Calgary, Calgary AB; Department of Pediatrics, University of Calgary, Calgary AB; Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary AB.
authors: Francois
authors: F
authors: Bernier
authors: Cytogenetics Laboratory, Alberta Children's Hospital, Calgary AB.
authors: Bob
authors: B
authors: Argiropoulos
authors: Cytogenetics Laboratory, Alberta Children's Hospital, Calgary AB.
authors: Judy
authors: J
authors: Chernos
authors: Department of Medical Genetics, University of Alberta, Edmonton AB.
authors: Oana
authors: O
authors: Caluseriu
authors: Department of Obstetrics and Gynecology, University of Calgary, Calgary AB.
authors: Rebecca
authors: R
authors: Simrose
authors: Department of Medical Genetics, University of Calgary, Calgary AB; Department of Pediatrics, University of Calgary, Calgary AB; Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary AB.
authors: Mary Ann
authors: MA
authors: Thomas
mesh_terms: D002170:Canada; D055028:Comparative Genomic Hybridization; D005333:Fetus; D006801:Humans; D007621:Karyotyping; D011296:Prenatal Diagnosis
keywords: Array comparative genomic hybridization; congenital heart defects; genetic counselling; prenatal diagnosis