荧光原位杂交技术产前诊断常见染色体非整倍体

Prenatal Diagnosis of Common Chromosomal Aneuploidies by Fluorescence in Situ Hybridization

目的：探讨荧光原位杂交（FISH）技术产前诊断常见染色体非整倍体的应用价值。方法：采用13、18、21、X和Y染色体特异性DNA探针对108例孕20～25周孕妇的未培养羊水细胞进行FISH检测，同时行羊水细胞染色体核型分析。结果：FISH检测108例成功104例（96．3％），其中染色体数目正常100例（58例为46，XX；42例为46，XY），染色体数目异常4例（3例47，XX，＋21；1例45，X／46，XX）。正常染色体数目中99例与传统核型分析结果一致，而另1例FISH结果为46，XX者传统核型分析显示为47，XX，＋mar。染色体数目异常的4例与传统核型分析结果完全一致。核型分析为47，XX，＋mar者因标记染色体来源不是13、18、21、X和Y染色体故FISH未能诊断。对于13、18、21、X和Y特异性探针来说，敏感性、特异性及与核型分析的符合率均为100％。结论：FISH技术用于产前诊断常见染色体非整倍体，具有简便、快速、特异性强、敏感性高、所用样本量少等优点。

Objective： To evaluate the possibility of using fluorescence in situ hybridization （FISH） for the detection of a few common chromosome aneuploidies in interphase nuclei of uncultured amniotie fluid cells. Methods： The interphase nuclei of amniotic fluid from 108 women at 20-25 weeks of pregnancy were detected by chromose-specifie DNA probes of 13,18,21, X and Y chromosomes. The routine analysis of amniotic cell karyotypes was also performed at the same time. Results： There were 104 having results in the 108 samples. One hundred normal karyotypes and 4 aneuploidies were detected by FISH. The chromosome karyotype of 47, XX,＋mar was found in one case, whose FISH signal showed normal. But as for 13,18,21,X and Y chromosome-specific probes, the sensitivity, specificity and accuracy of FISH were 100%. Conclusion： For prenatal diagnosis, FISH technique provided simple, fast, specific, sensitive and less sample methods.