妊娠中晚期羊水细胞核型分析  

Clinical study with 115 cases of amniotic cell karyotyping

作　　者：侯红瑛[1] 李小毛[1] 滕奔琦[1] 尹玉竹[1] 许成芳[1] 易翠兴[2] 

机构地区：[1]中山大学附属第三医院妇产科,广州510630 [2]广州市妇婴医院优生优育研究所,510000

出　　处：《中国优生与遗传杂志》2006年第8期42-44,共3页Chinese Journal of Birth Health & Heredity

基　　金：广东省卫生厅基金资助项目(A2003221);广东省科技厅基金资助项目(2003C3120)

摘　　要：目的 通过分析妊娠中、晚期胎儿羊水细胞染色体核型或白化病基因检查，了解该时期羊膜腔穿刺术的指征和安全性，总结中晚期羊膜腔穿刺价值及可行性。方法 115例有产前诊断指征的孕妇，在妊娠16～34w行羊膜腔穿刺取羊水细胞培养，检查胎儿染色体核型或白化病基因型。结果 羊膜腔穿刺115例，被检的87例妊娠中期羊水细胞培养成功率95．3％；28例晚期妊娠羊水细胞成功率96．4％；总成功率95．6％。无穿刺并发症。产前诊断符合率100％。孕妇中父、母染色体异常组出现胎儿染色体异常率最高（37．5％）。结论 在妊娠中晚期行羊膜腔穿刺取羊水细胞行遗传物质分析对胎儿是否患有染色体病或白化病作出产前诊断是安全可行的。Objective ： To investigate the value and the security of amniocentesis , and research the skill of amniocentesis. Methods： 115 specimens （16 - 34 weeks） of amniotic cell gotten by amniocentesis were cultured and karyotyped or albinism genetic teste. Results： The final successful rate of specimens （16 - 27 weeks） of amniotic cell gotten by amniocentesis was 95. 3%. The final successhd rate of 28 - 34 weeks was 96.4%. The total successful rate was 95. 6%. There was no complication in our study. The conforming rate of amniotic cell intrauterine diagnosis was 100%. The highest rate of fetal abnormal karyotype appeared in the parents whose karyotype were abnormal. Conclusion ： Amniocentesis and karyotyping are qualified for prenatal diagnosis of fetal chromosomal disease or albinism for its reliability and safety.

关 键 词：羊水细胞 产前诊断 染色体分析 基因检查 

分 类 号：R714.55[医药卫生—妇产科学]