胸苷和脱氧胞苷同步化技术在羊水细胞原位培养中的应用研究

Application of synchronization of thymidine and deoxycytidine in in-situ culture of amniotic fluid cells

目的 探讨改良同步化法羊水细胞原位培养技术在产前诊断中的应用价值。方法 对11294例羊水标本采用原位细胞培养基础上进行改良同步化法制备并G显带,对改良同步化法与常规法进行核型分析。结果 原位培养成功率为99.94%,改良同步化法的G显带分辨率达到500~600条带水平;常规法G显带的分辨率为300~400条带。对11288例培养成功羊水细胞进行染色体核型分析,检出异常核型1137例(10.07%),其中结构异常289例(2.56%)(包括9例复杂结构异常和19例结构异常真性镶嵌体);数目异常832例(7.37%)(包括124例数目异常真性镶嵌体);数目合并结构异常16例(0.14%)。结论 改良同步化法提升了染色体G显带的带纹分辨率,有效提高结构异常染色体的检出率。原位法细胞生长快,耗时少,降低假性镶嵌体。原位法培养与同步化法技术结合,提高染色体异常诊断准确性,在产前诊断中具有重要的临床诊断价值。

Objective To explore the application value of modified synchronous amniotic fluid cells in situ culture technique in prenatal diagnosis.Methods A total of 11294 amniotic fluid specimens were prepared by modified synchronous method and G-banding on the basis of cell culture in situ.Karyotype analysis was compared between the modified synchronous method and the conventional method.Results The success rate of culture in situ was 99.94%,and G-banding resolution of the modified synchronous method reached 500~600 bands.The resolution of the conventional G-banding method was 300~400 bands.Karyotype analysis of 11288 specimens showed that 1137 cases(10.24%) had abnormal chromosome karyotypes.of them,289 cases(2.56%) were structurally abnormal(contained 9 cases of complex structure abnormality and 19cases of true mosaicism);832 cases(7.37%) had abnormalities of chromosome number(contained 124 cases of true mosaicism);16 cases(0.14%) carried structure and number abnormalities of chromosomes.Conclusion The modified synchronous method improved the resolution of chromosomal G-banding,and effectively increased the detection rate of structurally abnormal chromosome.In situ culture method had the advantages of faster cell growth,less time consumption and lower false mosaicism.The combination of in situ culture and synchronization method improved the accuracy of chromosomal abnormality diagnosis,which has important clinicaldiagnostic value in prenatal diagnosis.