目的 探讨荧光原位杂交(FISH)技术在快速产前诊断胎儿染色体非整倍体异常中的价值.方法 使用荧光原位杂交技术,选用荧光素标记的双色13/21染色体位点特异性探针和三色18/X/Y染色体着丝粒探针,检测760例胎儿羊水细胞.结果 采用双色13/21号和三色18/X/Y染色体荧光探针检测间期未培养羊水细胞,发现8例21三体综合征,1例13三体综合征,1例45,XO,1例47,XXX,3例性染色体嵌合体.荧光原位杂交检测结果 和常规细胞遗传学检测结果 相比,两者符合率为99%.结论 荧光原位杂交技术在产前快速诊断胎儿染色体非整倍体异常有很高的临床价值.%Objective To investgate clinical value of fluorescence in situ hybridization (FISH) in rapid prenatal diagnosis of chromosome aneuploidy of the fetus. Methods Fluorescein-labeled bicolor 13th/21th chromosomal loci specificity probe and triad colour 18th/X/Y kinomere probe were used to detect cells in uncultured amniotic fluid samples of 760 pregnact women. Results 8 fetuses with trisomy 21 syndrome, I fetus with trisomy 13 syndrome, I fetus with with 45 ,XO, 1 fetus with 47,XXX and 5 fetuses with sex chromosome mosaic syndrome were identified. The coincidence rate of diagnosis between FISH and conventional cytogenetics was 99％. Conclusion FISH technique has a high clinic value in rapid diagnosis of chromosome aneuploidy.
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