Pediatric Cardiology

, Volume 32, Issue 8, pp 1147–1157

The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study

  • Robert J. Hartman
  • Sonja A. Rasmussen
  • Lorenzo D. Botto
  • Tiffany Riehle-Colarusso
  • Christa L. Martin
  • Janet D. Cragan
  • Mikyong Shin
  • Adolfo Correa
Original Article

Abstract

We aimed to assess the frequency of chromosomal abnormalities among infants with congenital heart defects (CHDs) in an analysis of population-based surveillance data. We reviewed data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth-defects surveillance system, to assess the frequency of chromosomal abnormalities among live-born infants and fetal deaths with CHDs delivered from January 1, 1994, to December 31, 2005. Among 4430 infants with CHDs, 547 (12.3%) had a chromosomal abnormality. CHDs most likely to be associated with a chromosomal abnormality were interrupted aortic arch (type B and not otherwise specified; 69.2%), atrioventricular septal defect (67.2%), and double-outlet right ventricle (33.3%). The most common chromosomal abnormalities observed were trisomy 21 (52.8%), trisomy 18 (12.8%), 22q11.2 deletion (12.2%), and trisomy 13 (5.7%). In conclusion, in our study, approximately 1 in 8 infants with a CHD had a chromosomal abnormality. Clinicians should have a low threshold at which to obtain testing for chromosomal abnormalities in infants with CHDs, especially those with certain types of CHDs. Use of new technologies that have become recently available (e.g., chromosomal microarray) may increase the identified contribution of chromosomal abnormalities even further.

Keywords

Chromosomal abnormality Congenital heart defect Congenital heart disease Prevalence Epidemiology 

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Copyright information

© Springer Science+Business Media, LLC (outside the USA)  2011

Authors and Affiliations

  • Robert J. Hartman
    • 1
    • 2
  • Sonja A. Rasmussen
    • 1
  • Lorenzo D. Botto
    • 3
  • Tiffany Riehle-Colarusso
    • 1
  • Christa L. Martin
    • 4
  • Janet D. Cragan
    • 1
  • Mikyong Shin
    • 1
    • 5
  • Adolfo Correa
    • 1
  1. 1.National Center on Birth Defects and Developmental DisabilitiesCenters for Disease Control and PreventionAtlantaUSA
  2. 2.Oak Ridge Institute for Science and EducationOak RidgeUSA
  3. 3.Department of PediatricsUniversity of Utah School of MedicineSalt Lake CityUSA
  4. 4.Department of Human GeneticsEmory UniversityAtlantaUSA
  5. 5.RTI InternationalTriangle Research ParkUSA

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