The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study
The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study
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DOI：
10.1007/s00246-011-0034-5
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发表时间：
2011-12-01
影响因子：
1.6
通讯作者：
Correa, Adolfo
中科院分区：
文献类型：
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作者：
Hartman, Robert J.;Rasmussen, Sonja A.;Correa, Adolfo
我们的目的是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) 婴儿染色体异常的频率。我们回顾了亚特兰大大都会先天缺陷计划（一个基于人群的出生缺陷监测系统）的数据，以评估 1994 年 1 月 1 日至 2005 年 12 月 31 日期间出生的先天性心脏病活产婴儿和胎儿死亡的染色体异常频率。在 4430 名患有先天性心脏病的婴儿中，547 名（12.3%）存在染色体异常。最有可能与染色体异常相关的先心病是主动脉弓中断（B 型，未另有说明；69.2%）、房室间隔缺损（67.2%）和右心室双出口（33.3%）。最常见的染色体异常是 21 三体性 (52.8%)、18 三体性 (12.8%)、22q11.2 缺失 (12.2%) 和 13 三体性 (5.7%)。总之，在我们的研究中，大约八分之一的先心病婴儿患有染色体异常。临床医生对患有先心病的婴儿（尤其是患有某些类型先心病的婴儿）进行染色体异常检测的门槛应较低。使用最近出现的新技术（例如染色体微阵列）可能会进一步增加染色体异常的影响。
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.