Hartman Robert J, Rasmussen Sonja A, Botto Lorenzo D, Riehle-Colarusso Tiffany, Martin Christa L, Cragan Janet D, Shin Mikyong, 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.
Pediatr Cardiol. 2011 Dec;32(8):1147-57. doi: 10.1007/s00246-011-0034-5. Epub 2011 Jul 5.
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.
我们旨在通过对基于人群的监测数据进行分析，评估先天性心脏病（CHD）婴儿中染色体异常的发生率。我们回顾了来自大亚特兰大先天性缺陷项目的数据，这是一个基于人群的出生缺陷监测系统，以评估1994年1月1日至2005年12月31日期间出生的患有CHD的活产婴儿和死胎中染色体异常的发生率。在4430例患有CHD的婴儿中，547例（12.3%）存在染色体异常。最有可能与染色体异常相关的CHD类型是主动脉弓中断（B型及未另行指定；69.2%）、房室间隔缺损（67.2%）和右心室双出口（33.3%）。观察到的最常见染色体异常是21三体（52.8%）、18三体（12.8%）、22q11.2缺失（12.2%）和13三体（5.7%）。总之，在我们的研究中，每8例患有CHD的婴儿中约有1例存在染色体异常。临床医生在对患有CHD的婴儿，尤其是患有某些类型CHD的婴儿进行染色体异常检测时，应保持较低的阈值。使用最近可用的新技术（如染色体微阵列）可能会进一步增加已确定的染色体异常的比例。
