论文部分内容阅读
目的 探讨流产病因及评估荧光原位杂交 (FISH)技术在检测流产绒毛染色体非整倍体畸变中的价值。方法 采用18、X和Y染色体着丝粒探针及 13、2 1染色体单一序列探针 ,对 5 8例自然流产绒毛标本同时进行FISH检测和常规染色体核型分析。结果 FISH技术异常核型检出率 2 4 1± 0 12 % ,高于常规染色体核型分析 (15 5 % ) ;常规染色体核型分析检出 2例FISH探针计划检测外的异常核型 4 6 ,XX ,del(2 ) (q2 1)和 4 7,XX ,+16。结论 FISH技术能快速、准确地诊断流产绒毛染色体非整倍体畸变 ,与常规染色体核型分析结合运用 ,可为临床流产病因的探讨提供更为准确的依据
Objective To investigate the etiology of abortion and evaluate the value of fluorescence in situ hybridization (FISH) in the detection of aneuploidy abortion. Methods Fifty-eight cases of spontaneous abortion samples were detected by FISH and routine chromosome karyotype analysis using 18, X and Y chromosome centromere probes and 13,21 chromosome single sequence probes. Results The detection rate of abnormal Karyotype in FISH was 214 ± 0 12%, which was higher than that of conventional karyotype analysis (15 5%). Two abnormal FISH probes were detected by conventional karyotype analysis. 6, XX, del (2) (q2 1) and 4 7, XX, + 16. Conclusion FISH can quickly and accurately diagnose aneuploidy chromosome aberrations in abortion, combined with conventional karyotype analysis can provide a more accurate basis for the discussion of the etiology of abortion