中山地区羊水细胞培养核型分析联合荧光原位杂交技术在产前诊断中的应用

The combined application of karyotype analysis of chromosome in amniotic fluid cells and fish in prenatal diagnosis in Zhongshan District

目的探索羊水细胞培养核型分析联合荧光原位杂交技术（FISH）在产前诊断中的应用价值;方法采集16～22孕周、有产前诊断指征孕妇的羊水标本369例,进行羊水细胞培养核型分析并同时采用13/18/21/X/Y染色体探针对未培养羊水进行FISH检测;结果 369例羊水细胞培养核型分析成功363例,异常27例（数目异常18例,结构异常9例）;未培养羊水细胞FISH检测全部成功,其中数目异常18例,与常规细胞培养核型分析结果一致,结论核型分析与FISH在常见染色体非整倍体异常方面保持较好的一致性,核型分析比较全面,异常检出率高;FISH操作比较快速、简便,是核型分析的有力补充。两种技术联合应用可以更有效地对胎儿染色体异常进行产前诊断。

Objective： To explore the applications value of karyotype analysis of chromosome in amniotic fluid cells and fluorescence in situ hybridization （FISH） in prenatal diagnosis.Methods： 369 samples of amniotic fluid from women during 16-22th-week gestation and with the indications of prenatal diagnosis were cultured and performed both karyotype analysis of chromosome and FISH using the 13/18/21/X/Y chromosome probe.Results： The success rate of karyotype analysis of chromosome in amniotic fluid cells culture was 98.37% （363 in 369 cases） .336 cases of normal variation of chromosome and 27 cases of abnormal variation of chromosome （numerical abnormalities chromosome in 18 cases, and structural abnormalities chromosome in 9 cases） were detected.The success rate of FISH detection of anmiotic fluid cells culture was 100.00%, which included 351 cases of normal variation of chromosome and 18 cases of numerical abnormal variation of chromosome.However, there were no cases of structural abnormalities chromosome detected in FISH, due to the limited detecting probe.Conclusion： The karyotype analysis and FISH detection showed good consistency in detection of abnormal chromosome numbers （aneuploidy） in amniotic fluid cells culture.Furthermore, the former was more comprehensive with higher detection rate, and the latter was more convenient with shorter operating time and less operating steps.To combined apply karyotype analysis and FISH in amniotic fluid cells can be more effective for fetal chromosome abnormalities in prenatal diagnosis.