新疆地区950例荧光原位杂交技术联合羊水培养核型分析产前诊断的应用

Application of 950 amniotic fluid cell culture and fluorescence in situ hybridization in prenatal diagnosis in Xingjiang area

目的探索荧光原位杂交(FISH)检测联合羊水培养核型分析在产前染色体疾病诊断中的应用价值;方法采集妊娠16周-26周、有产前诊断指针孕妇的羊水标本950例,采用13/18/21/X/Y染色体特异探针对未培养羊水进行FISH检测,同时将所有标本进行细胞培养核型分析;结果 FISH检测与细胞培养核型分析报告率均为100%;FISH在常见染色体非整倍体异常方面与核型分析保持高度一致性;FISH的检测结果可以提示部分嵌合体,可以明显提高异常病例核型报告检出的效率及准确度;结论荧光原位杂交(FISH)计数具有较高的细胞遗传检测效率;综合评估两种方法的优缺点及效率,关于我区产前诊断,理想中办法是将FISH检测与细胞培养核型分析联合运用。

Objective：To investigate the value of Fluorescence in situ hybridization（FISH）Combined with karyotype analysis of cultured amniotic fluid cells detection in the diagnosis of prenatal chromosome disease. Methods：Collected Amniotic fluid samples,that were pregnant during 16 weeks-26 weeks,and had the symptom of prenatal diagnosis. Using 13/18/21/X/Y chromosome specific probe to detect on uncultured amniotic fluid,at the same time,all specimens were subjected to karyotype analysis of cell culture. Results：Karyotype analysis and FISH detection report rate was 100%;FISH in common chromosome abnormality and karyotype analysis to maintain a high degree of consistency. Results：of FISH detection can prompt chimera,can significantly improve the efficiency of abnormal karyotype detection case report and accuracy. Conclusions：In Xinjiang area,the ideal way of prenatal diagnosis is to combined FISH detection with cell culture karyotype analysis,considering advantages、disadvantages and the efficiency of the two methods.