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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 value of amniotic fluid cell culture karyotype analysis combined with fluorescence in situ hybridization (FISH) in prenatal diagnosis. METHODS: A total of 369 cases of amniotic fluid specimens from prenatal diagnosis of pregnant women were collected from 16 to 22 gestational weeks for amniotic fluid cells Karyotype analysis and FISH detection of uncultured amniotic fluid with 13/18/21 / X / Y chromosome probe were also performed. Results 369 cases of amniotic fluid cell culture were successfully analyzed by karyotype analysis, 27 cases were abnormal Abnormalities in 9 cases); FISH detection of uncultured amniotic fluid cells were all successful, of which 18 cases were abnormal, which was consistent with the results of routine cell culture karyotype analysis. Conclusion Karyotype analysis was consistent with FISH in the common chromosomal aneuploidy abnormalities The karyotype analysis is more comprehensive and the rate of anomaly detection is higher. The FISH procedure is quick and easy, which is a powerful supplement to karyotype analysis. Combined application of the two techniques can more effectively prenatal diagnosis of fetal chromosomal abnormalities.