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目的羊水细胞培养染色体核型分析在产前诊断中的重要性,防止染色体病缺陷患儿的出生,提高我市出生人口素质。方法 2012年6月—2013年4月在我院产前诊断中心遗传咨询符合介入性产前诊断条件的孕16-24周301例孕妇在B超引导下行羊膜腔穿刺,抽取羊水15-20ml进行培养,通过制片、显带、进行染色体核型分析。结果 301例羊水培养成功299例,成功率为99.34%,检出数目及结构异常11例,阳性率为3.65%。其中,21-三体7例,18-三体2例,罗伯逊易位1例,5号短臂缺失1例,其它多态性13例。结论产前诊断是优生工作的重要组成部分,对有指征的孕妇进行羊膜腔穿刺行羊水细胞培养及核型分析,可有效防止染色体病患儿的出生,羊水细胞培养染色体核型分析在目前仍然是产前诊断中安全、可靠的方法。
Objective The importance of amniotic fluid cell culture chromosome karyotype analysis in prenatal diagnosis to prevent the birth of children with chromosomal defect and to improve the quality of birth population in our city. Methods From June 2012 to April 2013, 301 pregnant women with gestational age 16-24 weeks undergoing genetic counseling at the prenatal diagnosis center of our hospital underwent amniocentesis guided by B-ultrasound and 15-20ml of amniotic fluid was drawn Culture, through the production, banding, chromosome karyotype analysis. Results A total of 301 cases of amniotic fluid were successfully cultured in 299 cases, with a success rate of 99.34%. The number and structure of 11 cases were detected, the positive rate was 3.65%. Among them, 21 cases of trisomy in 7 cases, 18 cases of trisomy in 2 cases, 1 case of Robertson’s translocation, 5 cases of missing one arm, 13 cases of other polymorphisms. Conclusion Prenatal diagnosis is an important part of eugenics work. Amniotic fluid cell culture and karyotype analysis of amniotic fluid in pregnant women with indications can effectively prevent the birth of children with chromosomal disease. The karyotype analysis of amniotic fluid cell culture in the present It is still a safe and reliable method for prenatal diagnosis.