3537例高危孕妇羊水细胞染色体核型分析结果报道  

A report about the karyotype analysis of amniotic fluid cells during 3537 cases of high-risk pregnant women

作　　者：李雪齐[1] 文建庆[1] 韩树彪 

机构地区：[1]重庆市妇幼保健院遗传与生殖研究所,重庆400013

出　　处：《中文科技期刊数据库（文摘版）医药卫生》2015年第4期167-168,170,共3页

摘　　要：通过对3537例高危孕妇羊水穿刺标本进行羊水细胞染色体核型分析,探讨孕妇不同高危因素与羊水细胞染色体异常的关系,为临床上产前诊断咨询提供参考。方法:对2010年1月~2014年8月之间于我院行羊膜腔穿刺检查的3537例高危孕妇的羊水穿刺标本进行G显带染色体核型分析。结果:3537例羊水细胞核型分析结果中,共检出异常核型144例,总异常率为4.07%。异常核型中染色体数目异常最常见,检出率高迭45.83%(66/144)。孕妇仅有一项高危因素时,双方之一或双方均有染色体异常的发生核型异常的可能最大,核型异常率为78.95%。与单纯的高龄或者唐筛高危组比较,两者分别合并其他高危因素时核型异常率明显增加,分别达11.04%和10%,差异均有统计学意义(P值分别为0.0077和0.0086)。结论:合并多项高危因素的孕妇羊水细胞核型异常的发生率显著增加。羊水细胞核型分析是产前诊断不可缺少的检测方法之一,其安全,可靠,能有效减少新生儿的出生缺陷。Objective Through karyotype analysis of amniotic fluid cells with amniocentesis samples on 3537 cases of high-risk pregnancy women, to explore the relationship between the risk factors of pregnant women and the incidence of chromosome abnormality in amniotic fluid cells, provides clinical recommendations for the prenatal diagnosis and counseling. Methods Collected 3537 amniocentesis samples of high-risk pregnancy women in our hospital during 2010.01 - 2014.08, and analyzed with G-banding karyotype analysis. Results Among all of the 3537 cases of amniotic fluid cells karyotype results, 144 cases were found with abnormal karyotype, total abnormal rate was 4.07%. Abnormal karyotype of chromosome number abnormality is the most common ; the detection rate was 45.83% (66/144) . Pregnant women with only one high risk factor, amniotic fluid cells showed abnormal karyotype when parents of chromosomal abnormalities, abnormal rate in this study was 78.95%. Compared with pregnant women showed pure elder or high-risk of Down' s screening, combined with other high-risk factors would increase amniotic fluid cells karyotype abnormalities significantly. In this study up to 11.04% and 10% respectively, and the difference was statistically significant (P =0.0077and 0.0086) . Conclusions The abnormal amniotic fluid cells karyotypc rate of pregnant women with multiple risk factors increased significantly. Karyotype analysis of anmiotic fluid cells is safe and reliable, could well predict fetal chromosomal abnormalities, and is a good indicator for prenatal diagnosis of guide prepotency.

关 键 词：高危指证 核型分析 

分 类 号：R174.2[医药卫生—妇幼卫生保健]