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

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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.

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Acknowledgments

We thank Cheryl Broussard, Suzanne Gilboa, Assia Miller, and Sarah Tinker for their assistance with the statistical analyses. The authors acknowledge the dedication and contributions of the abstractors, staff, and scientists who contribute to the MACDP. This research was supported in part by an appointment to the Research Participation Program at the CDC administered by the Oak Ridge Institute for Science and Education through an interagency agreement between the United States Department of Energy and the CDC.

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The findings and conclusions in this article are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention (CDC).

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Correspondence to Sonja A. Rasmussen.

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Hartman, R.J., Rasmussen, S.A., Botto, L.D. et al. The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study. Pediatr Cardiol 32, 1147–1157 (2011). https://doi.org/10.1007/s00246-011-0034-5

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  • DOI: https://doi.org/10.1007/s00246-011-0034-5

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