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目的 探讨羊水细胞遗传学分析在产前诊断中的应用价值.方法 采集孕16～22周并有产前诊断指征孕妇的羊水标本522例,进行羊水细胞培养和染色体核型分析,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 504例羊水细胞培养和核型分析成功,异常54例(数目异常47例,结构异常7例);未培养羊水细胞FISH检测全部成功,其中数目异常48例,与常规细胞培养核型分析结果一致.NIPT技术应用可以进一步提高异常检出率,减少羊水穿刺检查数量.结论 染色体核型分析与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操作具有快速、简便等优点,是核型分析的有力补充.联合核型分析与FISH进行产前细胞遗传学诊断是一种行之有效的方法,但未来应建立以NIPT筛查为基础的产前诊断,并根据筛查结果选择合适的方法进行产前诊断.“,”Objective:To explore the applications value of cytogenetics analysis in prenatal diagnosis.Methods:522 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 96.55％ (504 in 522 cases.451 cases of normal variation of chromosome and 54 cases of abnormal variation of chromosome (numerical abnormalities chromosome in 49 cases,and structural abnormalities chromosome in 5 cases) were detected.The success rate of FISH detection of amniotic fluid cells culture was 100.00％,which included 474 cases of normal variation of chromosome and 48 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.Application of NIPTcould improve the detection rate of abnormal karyotype.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 a proven and effective method for fetal chromosome abnormalities in prenatal diagnosis,in the future,we should build the policy which was based on the result of NIPT and accord to the result,we choice the optimal method to implementprenatal diagnosis.