妊娠中晚期119例胎儿脐血染色体核型分析  

Analysis of chromosomal karyotypes in 119 fetal blood cases during the second and third trimesters of gestation

作　　者：宋桂宁[1] 梁梅英[1] 

机构地区：[1]北京大学人民医院产前诊断中心,北京100044

出　　处：《中国优生与遗传杂志》2010年第2期34-35,38,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析妊娠中晚期胎儿脐血染色体核型,了解该时期异常核型出现的频率、种类及与主要产前诊断指征的关系。方法对119例有产前诊断指征的孕妇,在妊娠20-38周时穿刺胎儿脐血静脉血管,抽取脐血进行染色体检查。结果发现异常核型16例,占13.5%(16/119),其中妊娠中期异常核型检出率12.0%(9/75),妊娠晚期异常核型检出率15.9%(7/44),P=0.546。三体征为主要染色体异常,占异常核型的81.3%(13/16),其中21-三体占50.0%(8/16),依次为13-三体,占18.8%(3/16)和18-三体占12.5%(2/16)。结论在有产前诊断指征的孕妇中,胎儿染色体异常的发生率为13.5%,染色体三体,尤其是21-三体是妊娠中、晚期主要的异常核型。Objective：To analyze the fetal chromosomal karyotypes from the cases obtained by cordocenteses during the second and third trimesters,and to investigate the types of chromosomal abnormalities,as well as the relationship between the abnormal karyotypes and the indications of prenatal diagnosis.Methods：Cordocenteses were performed in 119 pergnant womem with different indications for prenatal diagnosis during the 20 to 38 gestational weeks,and fetal chromosomal karyotypes were examined.Results：16chromosomal abnormalities （13.5%） were checked out.In the second trimester ,there were 9 abnormalities in 75 cases（12.0%）;whereas in the third trimester,it was 7 out of 44（15.9%）,Trisomy,the leading abnormality,consisted of 81.3%（13/16） of all abnormalities and 8 out of 16 were trisomy 21,which was 50.0%（8/16）.trisomy 13 is second,which was 18.8%（3/16）,tyisomy 18 is third,which was 12.5%（2/16）.Conclusion：During the second and third trimesters,the rate of chromosomal abnormality is 13.5% in those fetuses who have matermal indications for prenatal diagnosis. Trisomy,especially trisomy 21,is the most common abnomal karyotype found in these periods.

关 键 词：脐血 染色体异常 TORCH感染 脐带穿刺 

分 类 号：R714.55[医药卫生—妇产科学]