孕中期羊水细胞染色体核型分析在产前诊断中的应用

目的利用孕中期羊水细胞染色体核型分析进行产前诊断。方法对孕16-27w孕妇进行羊膜腔穿刺抽取羊水，做羊水细胞培养，制备染色体并分析染色体核型。结果255例孕妇，羊水培养成功247例，成功率为96．9％。可行染色体核型分析的247例中共发现13例染色体异常，占5．3％，其中常染色体数目异常3例，性染色体数目异常2例，嵌合体3例。平衡易位3例。其他结构异常2例。结论孕中期羊水细胞培养，染色体核型分析是产前诊断胎儿染色体疾病的一种安全、有效、可靠的方法。

Application of amniotic cell kargotyping in the prenatal diagnosis

Objective:The aim of this study was to make prenatal diagnosis using amniotic cell.Methods:Amniotic cell gotten by amniocentesis were cultured and kargotyped.Results:Cases were cultured successfully in 255 cases.The successful rate was 96.9%.There were 13 cases with chromosomal abnormality cases in 247.Cases who were kargotyped,which take 5.3% of the total cases.Among 13 cases with kargotype disorder,3 cases were autosomal chromosomal abnormalities,2 cases were sex chromosomal abnormalities,3 cases were mosaics,3 cases were balanced translocations and two cases were other chromosomal abnormalities.Conclusion:Amniocentesis and kargotyping are qualified for prenatal diagnosis of fetal chromosomal disease for its safety efficiency and reliability.