caa a22 4500 44582543X CHVBK 20180317145257.0 cr unu---uuuuu 170323e20111201xx s 000 0 eng 10.1007/s00246-011-0034-5 doi (NATIONALLICENCE)springer-10.1007/s00246-011-0034-5 The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study [Elektronische Daten] [Robert Hartman, Sonja Rasmussen, Lorenzo Botto, Tiffany Riehle-Colarusso, Christa Martin, Janet Cragan, Mikyong Shin, Adolfo Correa] 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. Springer Science+Business Media, LLC (outside the USA), 2011 Chromosomal abnormality nationallicence Congenital heart defect nationallicence Congenital heart disease nationallicence Prevalence nationallicence Epidemiology nationallicence Hartman Robert National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA aut Rasmussen Sonja National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA aut Botto Lorenzo Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA aut Riehle-Colarusso Tiffany National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA aut Martin Christa Department of Human Genetics, Emory University, Atlanta, GA, USA aut Cragan Janet National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA aut Shin Mikyong National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA aut Correa Adolfo National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA aut Pediatric Cardiology Springer-Verlag 32/8(2011-12-01), 1147-1157 0172-0643 32:8<1147 2011 32 246 https://doi.org/10.1007/s00246-011-0034-5 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00246-011-0034-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hartman Robert National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA aut NATIONALLICENCE 700 1- Rasmussen Sonja National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA aut NATIONALLICENCE 700 1- Botto Lorenzo Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA aut NATIONALLICENCE 700 1- Riehle-Colarusso Tiffany National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA aut NATIONALLICENCE 700 1- Martin Christa Department of Human Genetics, Emory University, Atlanta, GA, USA aut NATIONALLICENCE 700 1- Cragan Janet National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA aut NATIONALLICENCE 700 1- Shin Mikyong National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA aut NATIONALLICENCE 700 1- Correa Adolfo National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA aut NATIONALLICENCE 773 0- Pediatric Cardiology Springer-Verlag 32/8(2011-12-01), 1147-1157 0172-0643 32:8<1147 2011 32 246 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer