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Published in:

01-12-2011 | Original Article

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

Authors: Robert J. Hartman, Sonja A. Rasmussen, Lorenzo D. Botto, Tiffany Riehle-Colarusso, Christa L. Martin, Janet D. Cragan, Mikyong Shin, Adolfo Correa

Published in: Pediatric Cardiology | Issue 8/2011

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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Title: The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study
Authors: Robert J. Hartman
Sonja A. Rasmussen
Lorenzo D. Botto
Tiffany Riehle-Colarusso
Christa L. Martin
Janet D. Cragan
Mikyong Shin
Adolfo Correa
Publication date: 01-12-2011
Publisher: Springer-Verlag
Published in: Pediatric Cardiology / Issue 8/2011
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-011-0034-5

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

Abstract

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