Congenital Heart Disease, Newborn Screening and Genomics [NEW TOPIC PAGE]

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Last Posted: Dec 07, 2017

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• Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths.  
  Abouk Rahi et al. JAMA 2017 Dec 318(21) 2111-2118
• Key Findings: Study Finds Infant Cardiac Deaths Have Declined in States that Mandate Screening for Critical Congenital Heart Disease 
• The Success of State Newborn Screening Policies for Critical Congenital Heart Disease  
  Kemper Alex R et al. JAMA 2017 Dec 318(21) 2087-2088
• Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths  
  R Abouk et al., JAMA, Dec 5, 2017
• Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.  
  LaHaye Stephanie et al. Circulation. Cardiovascular genetics 2016 Aug 9(4) 320-9
• The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services.  
  Helm Benjamin M et al. Journal of genetic counseling 2017 Oct
• Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns  
  AH Li et al, Genome Medicine, Oct 2017
• Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit.  
  Ahrens-Nicklas Rebecca C et al. American journal of medical genetics. Part A 2016 Dec 170(12) 3090-3097
• Predicted v. real prevalence of the 22q11.2 deletion syndrome in children with congenital heart disease presenting to Red Cross War Memorial Children's Hospital, South Africa: A prospective study.  
  De Decker R et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2016 May 106(6 Suppl 1) S82-6
• Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.  
  Monteiro Rejane A C et al. Molecular syndromology 2017 Aug 8(5) 227-235
• CDC Grand Rounds: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease 
  MMWR Weekly / August 25, 2017 / 66(33);888?890
• CDC Grand Rounds: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease 
  MMWR Weekly / August 25, 2017 / 66(33);888?890
• Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease.  
  Geddes Gabrielle C et al. Pediatric cardiology 2017 Jul
• Outcome after prenatal and postnatal diagnosis of complex congenital heart defects and the influence of genetic anomalies.  
  De Groote Katya et al. Prenatal diagnosis 2017 Jul
• Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.  
  Barry Jessica C et al. Journal of clinical immunology 2017 May
• Genotype Positive Long QT Syndrome in Patients With Coexisting Congenital Heart Disease.  
  Ebrahim Mohammed A et al. The American journal of cardiology 2017 Apr

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