1564例脐血细胞染色体核型分析  

1564 Cases of Chromosomal Karyotype Analysis of Fetal Cord Blood

作　　者：王丹[1] 王华[1] 黄定梅 贾政军[1] 彭向京 周玉春[1] 

机构地区：[1]湖南省妇幼保健院遗传研究室,湖南长沙410018

出　　处：《中国产前诊断杂志（电子版）》2011年第4期18-21,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的 探讨脐带穿刺在产前诊断中的作用,了解染色体异常核型与产前诊断指征的关系,为遗传咨询与产前诊断提供依据。方法 对2001年6月至2011年6月在湖南省妇幼保健院就诊的1564例染色体病高危孕妇进行脐带穿刺,取脐血细胞培养,制备中期染色体,常规G显带,分析胎儿核型,进行产前诊断。结果 在1564例产前诊断对象中,检出胎儿染色体异常核型90例,检出率5.8%,数目异常为主要的染色体异常,以三体型为主,占49.6%,其中21三体占45.8%。结论 在高危孕妇中进行脐血穿刺是产前诊断的重要方法,同时结合孕母血清筛查、B超检查及高龄等是发现染色体病胎儿、预防出生缺陷的重要措施。Objective To analyze the value of chromosomal karyotypes of fetal cord blood for prenatal diagnosis,and to investigate the relationship between the chromosomal abnormalities and the indications of prenatal diagnosis,providing the basis for hereditary consultation and prenatal diagnosis.Methods Cordocenteses were performed in 1564 pregnant women with the indications of prenatal diagnosis during the June 2001 to June 2011,and fetal chromosomal karyotypes were examined.Results 90 chromosoma l abnormalities(5.8%)were checked out.Trisomy,the leading abnormality,consisted of 49.6% of all abnormalities and trisomy 21,which was 45.8%.Conclusion Cordblood for prenatal diagnosis of chromosomal diseases is important;and it is the major step of the diagnosticrate of choromosomal abnormalities and preventing birth defect with the prenatal serum screening,antenatal ultrasound screening and advanced age can increase.

关 键 词：脐带穿刺 产前诊断 染色体核型 

分 类 号：R714.5[医药卫生—妇产科学]