荧光原位杂交技术在诊断胎儿非整倍体疾病中的应用

Prenatal diagnosis of common chromosomal aneuploidies with fluorescence in situ hybridization

目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)诊断未培养羊水细胞非整倍体的临床应用价值。方法采用着丝粒探针、专一序列探针(13、18、21、X、Y)对99例进行产前诊断孕妇的羊水细胞进行FISH检测,并与常规细胞遗传学(CC)相比较。结果进行产前诊断的99例孕妇,CC检测其羊水细胞诊断出两例染色体异常患儿,分别是1例47,XX,+21和1例47,XY,+21,FISH与CC结果一致。结论 FISH对未培养羊水细胞非整倍体的检测有快速、准确、用量少的优势,可达到产前诊断要求,可用于产前诊断的临床应用。

Objective To evaluate the value of fluorescence in situ hybridization technology （FISH） for the diagnosis of chromosome abnormality in genetic diseases and prenatal diagnosis. Methods Appropriate fluorescence labeled probes including a-satellites DNA probe, chromosome sequence specific probe（13, 18, 21, X, Y） were used to hybridize with and amniotic fluid cells from 99 pregnant women with high risk who were suspected having chromosome abnormality by conventional cytogenetics（CC）. Results Among the 99 pregnant women, two fetuses with chromosome abnormality were diagnosed by CC, the karyotypes were 47, XX, ＋21 and 47, XY, ＋21, which were accordant with the results ofFISH. Conclusion Interphase FISH analysis of uncultured amniotic fluid cells with aneuploidy is a rapid, accurate and very sensitive method. It could be used in the prenatal cytogenetic laboratory.