【摘要】目的:利用妊娠中期羊水细胞染色体核型分析进行产前诊断。方法:对就诊且符合产前诊断指征的404例孕妇行羊膜腔穿刺羊水细胞培养染色体核型分析。结果:发现染色体异常核型19例(包括多态性变异5例),异常检出率为4.7%。其中数目异常8例,占42.1%;结构异常11例,占57.9%;不同产前诊断指征中的检出率不同,以夫妇一方为染色体异常携带者组最高,为39.1%。结论:对染色体病高危孕妇进行羊水细胞培养染色体核型分析,能有效地对胎儿染色体异常进行产前诊断。

    【关键词】羊水细胞;染色体; 核型; 产前诊断

    404 cases of amniotic fluid cells karyotype analysis

    YE Zi-li Liu Li CUI Wei

    【Abstract】Objective:The use of second trimester amniotic fluid cell karyotype analysis for prenatal diagnosis. Methods:To come to our hospital for treatment and in accordance with the indications for prenatal diagnosis of 404 cases of pregnant women visit puncture amniotic fluid cell culture karyotype analysis. Results:Karyotype chromosomal abnormalities found in 19 patients (including five cases of variant polymorphism), anomaly detection rate of 4.7 percent. Eight cases in which the number of anomalies, accounting for 42.1 percent; structural abnormalities 11 cases, accounting for 57.9 percent; different indications for prenatal diagnosis in the detection rate is different from one side to the couple for chromosomal abnormalities carriers the highest, at 39.1%.Conclusions:Pairs of chromosomes in amniotic fluid of pregnant women in high-risk disease cells Karyotype analysis, can effectively fetus for prenatal diagnosis of chromosomal abnormalities. ......