羊水细胞染色体分析在产前诊断中的应用

目的:以改良的羊水细胞培养和染色体制备方法,提高产前诊断的准确性和成功率,探讨羊膜腔穿刺羊水细胞染色体分析对产前诊断胎儿染色体病的意义。方法:从2002年9月～2007年12月选择孕周为15.6～29.0周、产前筛查为高风险的孕妇1788例进行羊水细胞培养和染色体核型分析。结果:1788例羊水细胞培养成功率为99.9%(1786/1788),核型分析的成功率为99.7%(1782/1788),发现异常核型51例(2.9%),其中18-三体9例,占0.5%,21-三体11例,占0.6%。结论:本方法具有高效、简便和成功率高等优点,是一种实用的产前诊断方法。

Applications of the amniotic cell karyotype analysis in pregnant diagnosis

Objective:To improve prenatal diagnose veracity and succeed by improve technique method for the preparation of chromosome from amniotic-fluid cells,to investigate the value of indications for amniocentesis.Methods:From 2002 to 2007,1788 specimens(prenatal-screening high risk women in 15.6-29.0 pregnant weeks) of amniotic cell gotten by amniocentesis were cultured and analyzed.Results:The succeed proportion of 1788 amniotic fluid cells cultivate was 99.9%,the succeed proportion of karyotypes analysis was 99.7%,abnormal chromosomal karyotypes were detected(2.9%),including trisomy-18(0.5%),trisomy-21(0.6%).Conclusion:The method is high effect,simpleness and high succeed,and is practicality in prenatal diagnose.