孕早期绒毛染色体培养应用于产前诊断69例  

69 cases prenatal diagnosis using Chorionic villus sampling and chromosome karyotyping in the first trimester pregnancy.

作　　者：干志峰[1] 肖英[1] 方小武[1] 梁少霞[1] 赵婧[1] 

机构地区：[1]中山市博爱医院,广东528403

出　　处：《中国优生与遗传杂志》2011年第7期44-45,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的建立绒毛染色体培养分析方法用于孕早期产前诊断并进行有效性评估。方法 2007年10月至2010年2月共69例孕早期具有相应的产前诊断适应症孕妇,于孕7-13周经腹抽取绒毛样本,用培养法进行染色体培养、分析。结果 69例绒毛样本全部培养成功,检出染色体异常5例,其中21-三体1例,18三体1例,不平衡易位1例,平衡易位1例,9号染色体臂间倒位1例,异常核型携带者进行相应的临床处置。结论绒毛染色体培养分析是孕早期产前诊断的有效方法,绒毛活检术在产前诊断领域应用前景广泛,与羊膜腔、脐带血穿刺术相比较有一定优势,在条件许可的实验室应尽可能开展。Objective： To establish the method about villus tissue cell culture for chromosome karyotypig and evaluate it＇s accuracy and feasibility.Methods：69 pregnacies with high risk were sampled in 7-13 gestation weeks with TA-CVS from October 2007 to February 2010,villus tissue cell culture and karotype were followed.Results： All cases were successfully diagnosed,5 abnormalities were deteced,among which trisomy 21 1 case,trisomy 18 1 case,non-balance translocation 1 case,balance translocation 1 cases,pericentric inversion 9 1 case,clinical treatments were performed accordingly.Conclusions：TA-CVS and chromosome karyotyping is an effective way and can be offered for prenatal diagnosis in the first trimester pregnancy.

关 键 词：孕早期 绒毛活检 染色体分析 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]