胎儿染色体异常与不同先天性心脏病的关系研究

Chromosome Abnormalities and Congenital Heart Diseases:A Retrospective Study on 49 Cases

目的通过分析产前诊断中确诊的染色体异常并伴有先天性心脏病畸形患儿相关资料,总结心脏畸形不同分类和染色体异常的关系及比率,为探讨先天性心脏病病因、提高先天性心脏病产前诊断率提供理论依据。方法回顾性分析2006年1月至2009年12月间北京大学人民医院产前诊断中心确诊的染色体异常并伴有先天性心脏畸形病例资料,综合分析先天性心脏病畸形分类和染色体异常的关系及比率。结果49例染色体异常伴先天性心脏畸形患儿中,21-三体11例,18-三体6例,13-三体6例,14-三体1例,16-三体3例,8-三体1例,22-三体1例,46,XY/XX,5p-2例,易位型部分三体8例,性染色体异常8例,三倍体2例。相同的染色体异常可伴有不同的心脏畸形及心外畸形,同样的心脏畸形可存在不同的染色体异常。结论染色体异常可伴有众多基因的增加或减少,可同时伴有多种心脏或心外畸形,不同染色体异常伴发心脏畸形的类型及比率也各不同。超声提示胎儿心脏畸形者,应进一步行产前细胞遗传学诊断以排除染色体异常,避免染色体异常综合征患儿出生。

Objective To investigate the association between congenital heart diseases and chromosome abnormalities.Methods Patients with congenital heart diseases who underwent chromosome examinations during Jan 2006 and Dec 2009 in the Center of Prenatal Diagnosis of Beijing University People＇s Hospital were recruited in the study.The association between chromosome karyotypes and types of congenital heart diseases was analyzed.Results Among the 49 patients with congenital heart diseases,trisomy 21 was established in 11 cases,trisomy 18 in 6 cases,trisomy 13 in 6 cases,trisomy 14 in 1 cases,trisomy 16 in 3 cases,trisomy 8 in 1 cases,trisomy 22 in 1 cases,sex chromosomal abnormalities in 8 cases,triploid in 2 cases,partial chromosomal trisomy in 8 cases,and 46,XX/XY,5p-in 2 cases.Conclusion Chromosome abnormalities are associated with congenital heart diseases.Different abnormal chromosome karyotypes contribute to different types of congenital heart diseases.Prenatal chromosome examinations could be undertaken to detect congenital heart diseases.