应用荧光原位杂交产前诊断未培养羊水细胞非整倍体

目的探讨荧光原位杂交(fluorescenceinsituhybridization,FISH)诊断未培养羊水细胞非整倍体的临床应用价值。方法对55例孕16～32周未培养羊水细胞进行FISH快速产前诊断,应用多色FISH对另4条染色体(X、Y、13号和18号)进行检测。以经母腹穿刺取胎血常规核型分析作为FISH检测结果对照。结果被检55例羊水未培养细胞均获得诊断结果,发现两例异常胎儿。1例为标准型21三体;另1例为21三体嵌合体。FISH检测与常规核型分析结果一致。结论FISH检测未培养羊水细胞非整倍体具有快速、简便、所用样本量少的优势,结果准确可靠,可达到产前诊断要求,有较大临床应用价值。

Prenatal diagnosis of common chromosomal aneuploidies on uncultured amniotic fluid cells by fluorescence in situ hybridization

Objective To evaluate the feasibility of using fluorescence in situ hybridization(FISH) for the detection of a few common chromosome aneuploidies on interphase nuclei of uncultured amniotic fluid cells. Methods Amniotic fluid samples were taken from 55 women at 16 32 weeks of pregnancy; interphase FISH was performed for diagnosing Down syndrome and aneuploidies of other four chromosomes 13,18, X and Y. Then the karyotypes from standard cytogenetic analysis after percutaneous umbilical blood sampling(PUBS) were compared to the FISH results. Results Each of the 55 uncultured amniotic fluid samples tested with FISH was enumerated 200 nuclei. Fifty three samples were normal. Two samples were found to have trisomy 21(one is a case of standard trisomy 21 with three signals in all 200 nuclei, the other is a mosaic trisomy 21). Conclusion Interphase FISH analysis of uncultured amniotic fluid cells is a rapid, accurate and very sensitive method. It could be used in the prenatal cytogenetic laboratory.