本研究使用多色FISH技术,选用荧光素标记的双色13/21染色体特异性位点探针和三色18/X/Y染色体着丝粒探针,检测了100例孕妇的胎儿羊水细胞,诊断出2例21-三体综合征胎儿,2例性染色体嵌合体胎儿。FISH实验和常规细胞遗传学实验结果符合率97%,说明FISH技术在快速产前诊断特定染色体数目异常有较高的临床价值,多色FISH技术可以一次性检测多项特定染色体数目异常。 In this study, a multicolor FISH technique was used to detect fetal amniotic fluid cells in 100 pregnant women with fluorescein-labeled two-color 13/21 chromosomally-specific site probes and tricolor 18 / X / Y chromosome centromere probes 2 cases of 21 trisomy syndrome fetus, 2 cases of sex chromosome mosaicism fetus. FISH experiments and conventional cytogenetic experiments with a 97% compliance rate, indicating that FISH technology in rapid prenatal diagnosis of specific chromosome abnormalities have a higher clinical value, multi-color FISH technology can detect a number of specific chromosome abnormalities.