羊水细胞的荧光原位杂交用于胎儿染色体非整倍体的产前诊断

【目的】应用染色体特异性探针对羊水间期细胞进行FISH分析。【方法】对78例有产前诊断指征的孕妇进行羊水间期细胞的FISH分析及细胞核型分析。【结果】71例二倍体羊水样本,FISH诊断与细胞培养核型分析相符;染色体数目异常7例,FISH诊断出其中6例。间期细胞FISH的杂交率与探针类型、靶细胞种类及孕周有关。孕晚期羊水样本、母血污染的样本和快速杂交的样本,以及长时间放置的样本,FISH分析结果与核型分析完全符合。针对特异探针而言,染色体非整倍体的诊断准确率达100%。【结论】应用染色体特异性探针对羊水间期细胞进行FISH分析可用于胎儿染色体非整倍体的产前诊断,该方法简便快速、结论可靠。

Prenatal Diagnosis of Chromosome Aneuploidies Using Fluorescene in Situ Hybridization in Uncultured Amniocytes

[Objective] To make prenatal diagnosis of chromosome aneuploidies by FISH analysis of chromosome-specific probes in interphase amniocytes. [Methods] A total of 78 patients with indications were performed amniocentesis or cordocentesis with karyotyping. Simultaneously, interphase FISH with X, Y, 18, 21 chromosome-specific probes was done on them. [Results] Our FISH results showed 6 out of 7 abnormal aneuploid cases. 71 cases showed normal karyotype, which were consistent with FISH results. Hybridization efficiency of interphase FISH was associated with the type of probes, target cells, and gestational age. Informative FISH results on the trimester samples, the bloody samples, and the stored samples were recorded. The accurate results with ultra-rapid FISH using CEP X/Y and CEP18 were recorded. Compared to G-banding analysis, the accuracy of FISH with specific probes was 100% in this study. [Conclusion] FISH analysis of chromosome-specific probes on interphase amniocytes can be used in the prenatal diagnosis of chromosome aneuploidies. This method is rapid, easy to perform, and credible.