孕早期58例绒毛细胞培养及染色体核型分析  

Analysis of fetal chromosomal karyotypes and chorionic villus cultivation in 58 pregnant women during the first trimester of gestation

作　　者：李春艳[1] 张晶[1] 李卫凯[1] 黄胜起[1] LI Chun-yan, ZHANG Jing, LI Wei-kai, HUANG Sheng-qi(Department of Clinical Laboratory, Jiangmen Central Hospital, Jiangmen, Guangdong, 52907)

机构地区：[1]江门市中心医院检验科细胞遗传室,广东江门529070

出　　处：《中国优生与遗传杂志》2018年第3期48-50,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨孕早期绒毛细胞培养染色体核型分析在产前诊断中的应用。方法对2012年3月至2016年12月在我院产科门诊就诊的58例具有产前诊断指征的孕妇,在B超引导下经腹抽取绒毛,用培养法进行绒毛细胞培养及G显带染色体核型分析;结果 58例绒毛标本,培养成功58例,培养成功率100%;共检出染色体异常核型30例,异常率为51.72%;其中11例45,X;6例18三体;4例21三体;1例47,XXX;1例92,XXXX;1例47,XN,+mar嵌合体;1例X染色体部分重复嵌合体;2例染色体缺失;1例平衡易位。结论绒毛细胞培养及染色体核型分析方法简便可靠,成功率高,能在孕早期及时发现胎儿染色体疾病,为产前诊断提供帮助。Objective：To analyze the chromosomal karyotypes and chorionic villus cultivation in early pregnancy women,explore the application of chromosome analysis of chorionic villus cells in prenatal diagnosis. Methods：58 cases pregnant women with the indications for prenatal diagnosis from Mar. 2013 to Dec. 2016 undergo transabodyminal chorionic villus sampling by ultrasound monitoring,villus cell cultur and performed the G-banding staining for karyotype analysis. Results：58 example pregnant woman′s of villus samples were successfully cultured in 58 cases,and the culture success rate was 100%.chromosome inspection result,the unusual nuclear 30 examples,the embryo chromosome rate of abnormality is 51.72%,which includes 11 cases of Turner Syndrome;6 cases of 18-trisomy,4 cases of 21-trisomy;1 case of 47,XXX;1 case of 92,XXXX;1 case of 47,XN,＋mar chimaera;1 case of Partial duplication of X chromosome;2 cases of chromosome deficiency;1 case of balanced translocation. Conclusion：The method of chorionic villus cultivation and chromosomal karyotype analysis is simple,reliable and highly successful. It can detect fetal chromosomal diseases in early pregnancy and provide help for prenatal diagnosis.

关 键 词：绒毛细胞培养 染色体核型分析 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]