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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。
Objective To investigate the distribution of chromosomal abnormalities in prenatal ultrasound screening of fetuses diagnosed with congenital heart disease, to explore the etiology of congenital heart disease and to improve the rate of prenatal diagnosis. Methods The karyotypes of amniotic fluid or umbilical cord blood were checked in the fetuses with congenital heart disease diagnosed by B-mode ultrasonography from January 2011 to June 2013 in our hospital and comprehensively analyzed the classification of congenital heart disease Chromosomal abnormalities. Results 70 cases of congenital heart disease diagnosed cases, with chromosomal abnormalities in 18 cases, accounting for 25.71% (18/70), including 21 trisomy 7, 18 trisomy 7, trisomy 2, X monomer in 2 cases. Twenty-two fetuses with congenital heart disease complicated by extra-cardiac malformations were found in 14 cases (63.64%), which were abnormal in chromosome examination. Only the karyotype analysis of fetuses with congenital heart disease found 4 cases of chromosomal abnormalities, accounting for simple congenital heart disease 8.33% (4/48). Among CHD fetuses, 100% 13-trisomy, 85.71% 18-trisomy, 71.43% 21-trisomy and 50% X were all associated with extracardiac malformations to varying degrees. Conclusion Chromosomal abnormalities are congenital heart disease diagnosed by prenatal B-ultrasound, especially complicated congenital heart disease or other causes of extra-cardiac deformity. For B-screen complex complex congenital heart disease or fetus with other extra-cardiac malformations, should pay attention to its chromosome examination.