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目的探讨羊水染色体分析在产前诊断中的应用。方法对344例2007年6月至2010年8月湖南省湘潭市妇幼保健院遗传咨询高危孕妇,于孕18~28周在B超引导下进行羊膜腔穿刺,抽取羊水20~30ml,羊水细胞培养G显带进行羊水染色体核型分析。结果 344例孕妇羊水羊水细胞培养成功342例,成功率为99.41%(342/344),发现异常核型15例,异常率为4.39%(15/342),其中21-三体3例、18-三体2例、特纳综合征2例、48,XXY,+21 1例、平衡易位4例、倒位1例、部分染色体三体1例、部分染色体单体1例;遗传多态性10例。羊水染色体异常核型分析与随访结果一致。结论说明羊水染色体分析在产前诊断染色体病中起着重要的作用。
Objective To investigate the application of amniotic fluid chromosome analysis in prenatal diagnosis. Methods A total of 344 high risk pregnant women with genetic counseling were recruited from 344 patients from June 2007 to August 2010 in Xiangtan MCH Hospital of Hunan Province. Amniocentesis was performed under the guidance of B ultrasound during the first 18-28 weeks of pregnancy. 20-30 ml of amniotic fluid were drawn, G banding for amniotic fluid karyotype analysis. Results A total of 342 cases of amniotic fluid were successfully cultured in 344 pregnant women, with a success rate of 99.41% (342/344). There were 15 abnormal karyotypes found in this group, the abnormality rate was 4.39% (15/342), including 21 cases of trisomy 21 and 18 cases 2 cases of trisomy, 2 cases of Turner syndrome, 1 case of 48, XXY, + 21 cases, 4 cases of balanced translocation, 1 case of inverted position, 1 case of partial chromosomal trisomy, and 1 case of partial chromosomal abnormality. Sex in 10 cases. Abnormal amniotic fluid chromosome karyotype analysis and follow-up results. Conclusions that amniotic fluid chromosome analysis in prenatal diagnosis of chromosomal disease plays an important role.