产前超声诊断胎儿先天性心脏病中染色体核型异常的分析

目的调查分析产前超声筛查后确诊先天性心脏病胎儿中染色体异常的分布,探讨先天性心脏病的病因,提高产前诊断率。方法对2011年1月至2013年6月在本院产前诊断中心产科门诊B超诊断的先天性心脏病胎儿进行羊水或脐带血的染色体核型检查,并综合分析先天性心脏病畸形分类和染色体异常的关系。结果确诊的70例先天性心脏病病例中,伴染色体异常者18例,占25.71%（18/70）,其中21-三体7例,18-三体7例,13-三体2例,X单体2例。先天性心脏病合并心外畸形的胎儿22例,其中有14例（63.64%）染色体检查发现异常,仅有先天性心脏病的胎儿核型分析发现4例染色体异常,占单纯先天性心脏病的8.33%（4/48）。CHD胎儿中,100%的13-三体、85.71%的18-三体、71.43%的21-三体和50%的X单体均不同程度的伴有心外器官的畸形。结论染色体异常是产前B超诊断的先天性心脏病,尤其是复杂型先天性心脏病或有合并其他心外畸形的主要病因。对于B超筛查出的复杂型先天性心脏病或有合并其他心外畸形的胎儿,应重视其染色体的检查。

Chromosome abnormalities in fetal congenital heart diseases diagnosed by prenatal ultrasonic cardiography.

Objective： To investigate the distribution of chromosomal abnormalities in fetal congenital heart diseases （CHD） diagnosed by prenatal ultrasonic cardiography. Methods： Fetuses with CHD diagnosed by prenatal ultrasonic cardiography from Jan 2011 to June 2013 were tested chromosomal karotype by amniocentesis or cordocentesis. The association between chromosome karyotypes and types of congenital heart diseases was analyzed. Results： 18 in all 70 CHD cases had chromosomal abnormalities, including 7 cases of 21-trisomy, 7 cases of 18-trisomy, 2 cases of 13-trisomy and 2 cases of 45, X.14 in 22 （63.64%） cases of CHD accompanied with other malformations had chromosomal abnormalities. Only 4 in 48 （8.33%） cases of simple CHD had chromosomal abnormalities.100% of 13-trisomy, 85.71% of 18-trisomy, 71.43% of 21-trisomy and 50% of 45, X had other malformations in different degree. Conclusion： Chromosomal abnormality is the most reason of complicate CHD. Chromosomal karotype test should be detected in fetus with complicate CHD.