237例孕妇羊水细胞染色体遗传分析  

作　　者：周伟[1] 李新伟[1] 许世敏 

机构地区：[1]漯河医学高等专科学校,河南462002 [2]漯河市郾城区人民医院

出　　处：《当代医学》2016年第10期3-4,共2页Contemporary Medicine

基　　金：河南省科技厅年度计划项目(132300410471)

摘　　要：目的分析孕妇羊水细胞染色体异常情况及其与产前诊断各指征之间的联系,探讨羊水细胞染色体核型检查在产前诊断中的作用。方法通过细胞遗传学方法,对237例具有产前诊断指征的孕妇进行羊水细胞培养,并分析其染色体核型。结果 237例孕妇羊水培养成功率98.73%(234例)。检出异常核型11例(4.7%),其中数目异常占异常核型的54.55%(6例),以三体型为主,结构异常占异常核型的36.36%(4例)。在各项产前指征中,B超检查异常和高龄孕妇受检人数最多,超声指标异常的染色体核型异常检出率最高(8.06%),与其他组比较差异有统计学意义(P<0.05)。结论羊水细胞的染色体核型分析能够有效地对胎儿染色异常进行诊断,是进行产前遗传诊断的有效手段。Objective To analyze the relationship of the chromosomal karyotypes in amntotic fluid cell with the prenatal diagnosis indications, and investigate the significance in prenatal diagnosis indications. Methods Amniotic fluid cell culture and karyotypes analysis were carried out in the 237 cases of pregnancy women for prenatal diagnosis. Results 234 cases were cultured successfully in 237 pregnancy women, the successful rate was 98.73%. 11 fetuses（4.7% ）were found with abnormal karyotypes which incluted 6 cases of numerical abnormalities chromosomes（54.55% in abnormal chromosome） and 4 cases of tructural abnormality chromosomes（36.36% in abnormal chromosome）. Detection rate of abnormal karyotype on ultrasound was highest（8.06%）, there was significantly difference compared with the other groups（P〈0,05）. Conclusion Amniocentesis and chromosomal karyotyping in amniotic fluid cells which carrying out in the high risk pregnancy women is the effective prenatal diagnosis methods.

关 键 词：产前诊断 羊膜腔穿刺 羊水细胞培养 染色体核型分析 

分 类 号：R714.5[医药卫生—妇产科学]