胎儿先天性心脏发育异常与染色体核型的相关性分析

Correlation analysis between congenital heart abnormalities and chromosome karyotype in fetus

目的:超声引导下脐静脉穿刺血细胞培养对先天性心脏发育异常胎儿的染色体核型进行分析。方法:对在我院行产前超声检查发现胎儿先天性心脏发育异常及伴或不伴发胎儿其它结构异常的孕妇94例,经腹在超声引导下脐静脉血穿刺取血行染色体核型分析。结果:94例均取血成功,其中92例脐血细胞培养成功,2例培养失败。92例病例中胎儿单纯先天性心脏发育异常者40例,其中染色体核型异常者10例,占25.0%,染色体核型正常者30例,占75.0%;先天性心脏发育异常伴发其他结构异常者52例,其中染色体核型异常者26例,占50.0%,染色体核型正常者26例,占50.0%。92例染色体核型培养成功者中,染色体核型异常者共36例,其中21-三体综合征11例,18-三体综合征10例,13-三体综合征5例,45XO 1例,其他染色体异常者9例;染色体核型正常者共56例。结论:胎儿先天性心脏发育异常伴发其他结构发育异常时染色体异常的发生风险增加。

Objective：To analyse the chromosome karyotype of fetus with congenital heart abnormalities by abdominal ultrasound -guided puncture of the umbilical vein .Methods：94 patients in our hospital were found with fetal congenital heart abnormalities and with or without other fetal structural abnormalities through fetal echocardiography .Get the blood sample by transabdominal ultrasound -guided umbilical cord puncture and then to check the chromosome .Results：94 cases were successfully taken blood , cord blood cells of 92 cases were successfully cultured , two cases of culture failed .40 cases were simple cases with fetal congenital heart abnormalities in the 92 ca-ses, including chromosome abnormalities in 10 case （ 25.0%）, normal karyotype in 30 cases （ 75.0%）;52 cases were congenital heart abnormalities associated with other structural abnormalities in the 92 cases, including chromosome abnormalities in 26 cases （50.0%）, normal karyotype in 26 cases （50.0%）.36 cases were chromosome abnormalities in the 92 cases.In the 36 cases ,with 11 cases of 21 -trisomy syndrome, 10 cases of 18 -trisomy syndrom, 5 cases of 13 -trisomy syndrome and 1 cases of 45XO,other chromosomal abnor-malities were 9 cases.56 cases were normal karyotype in the 92 cases.Conclusions：The risk of chromosomal abnormalities would increase in fetal congenital heart abnormalities associated with the existing of abnormalities in other organs .