荧光原位杂交产前诊断羊水间期细胞非整倍体的临床应用价值

Prenatal Diagnosis of Chromosomal Aneuploidies on Uncultured Amniotic Fluid Cells by Fluorescence in situ Hybridization

目的探讨荧光原位杂交(fluorescenceinsituhybridization,FISH)诊断羊水间期细胞非整倍体的临床应用价值。方法收集547例孕妇中唐氏综合征筛查阳性者28例及3例具有其他产前诊断指征的孕妇,共计31例患者的羊水,应用13/21号染色体特异性双色探针对羊水间期细胞进行FISH检测,以羊水培养细胞常规G显带核型分析作为FISH检测结果对照。结果31例标本中1例发生母血严重污染,其余30份标本均杂交成功(包括1例混浊羊水)。FISH检测结果发现典型21三体1例,未发现13三体。FISH诊断结果与核型分析结果一致。结论FISH产前诊断羊水间期细胞非整倍体准确率与核型分析一致,与核型分析相比,FISH具有快速、所需样本量少且结果直观易辨的优势,有较高的临床应用价值。

Objective To evaluate the feasibility of using fluorescence in situ hybridization（FISH） for the detection of some common chromosome aneuploidies on interphase nuclei of uncultured amniotic fluid cells. Methods Using screening on Down＇ s syndrome,28 positive cases were found in 547 pregnancy serum samples. A total of 31 patients received amniocentesis,inclu- ding the 28 cases and other 3 cases with indications of prenatal diagnosis. Simultaneously,interphase FISH with 13,21 chromosome-specific probes was done on them. The G banding karyotypes from standard cytogenetic analysis after cultured amniotie fluid cells were compared to the FISH results. Results Except a sample polluted by maternal blood,the remaining 30 samples were succeeded in testing,including a cloudy sample. FISH results showed a case of trisomy 21, which was consistent with that by karyotype analysis. In addition,a case of 47,XXX was found by karyotype analysis. Conclusion Interphase FISH analysis of uncultured amniotie fluid cells is a reliable,rapid and accurate method.