孕中期羊水染色体细胞遗传学分析  

Cytogenetic Analysis of Amniotic Fluid During Second-trimester of Pregnancy

作　　者：段程颖[1] 偶健[1] 刘一琳[1] 傅文宇[1] 孙健姜[1] 东李红 

机构地区：[1]南京医科大学附属苏州医院苏州市立医院生殖与遗传中心,江苏苏州215002

出　　处：《中国产前诊断杂志（电子版）》2013年第2期22-25,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的通过胎儿的羊水染色体进行临床分析,探讨胎儿染色体异常与产前诊断指征的关系。方法 2012年1月至12月在本中心行产前诊断的1668例孕妇进行羊膜腔的穿刺,羊水细胞培养后进行染色体核型分析。结果羊水细胞培养成功1668例,检出染色体异常68例,异常率4.08%。最常见的染色体异常核型类型是数目异常,异常率达到72.06%。在产前诊断指征中,筛查高风险异常核型30例(3.21%);在临界高风险及伴有其他异常指标者120例孕妇中,染色体异常者占11例,异常率9.17%。结论筛查高风险、临界高风险伴其他指标异常和高龄是产前诊断的主要指征,临床医生应加深对染色体病的认识,综合各种筛查、诊断方法,提高染色体病的诊断水平,降低染色体病患儿的出生。Objective To investigate the relationship between fetal abnormal chromosome and prenatal diagnosis indications through to analyze fetal amniotic chromosome. Method 1668cases of pregnant women for prenataldiagnosiswho had received amniocentesisduring January to December 2012,then amniotic cell culture andkaryotype analysis. Results Amniotic cell culture was successful in 1668 women. Sixty-eight casesabnormal chromosome karyotype was detected and the abnormal rate was 4.08%.The most common type of karyotype was numerical abnormality,the rate of abnormality was 72.06%. According to the indicationsof prenatal diagnosis, the abnormal chromosome cases of high-risk on screening were detected in 30 cases, the frequency of abnormality was 3.21%. Among the 120 cases in the critical value of high-risk and other anomaly index ,the abnormal chromosomekaryotype to reach 11cases, the frequency of abnormality was9.17%. Conclusions The high-risk on screening and critical-risk on screeningand other anomaly index and age were the main indicatorsfor prenatal diagnosis,clinician should understand well the chromosome disorder and apply all kinds of methods on screening and diagnosis to increase its diagnosis level, and reduce the birth of infants suffered from chromosome abnormalities.

关 键 词：产前筛查 羊水细胞培养 核型分析 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]