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目的探讨FISH技术在检测自然流产绒毛组织染色体异常中的应用价值。方法采用FISH技术对100例早期妊娠自然流产绒毛进行染色体数目检测,部分病例同时行常规细胞培养核型分析,分析两种方法的诊断结果。结果 100例绒毛标本FISH检测成功率100%,染色体数目异常42例,检出率42.00%。23例标本同时细胞培养,培养成功率91.30%(21/23),核型分析异常染色体比率61.91%(13/21),其中非整倍体占84.61%(11/13)。FISH检测结果与染色体核型分析吻合率100%,漏诊率23.08%(3/13)。结论 FISH技术具有敏感性高、特异性强、诊断快速、对标本要求低等优势,但漏诊率较高,建议条件许可者核型分析和FISH检测同时进行。
Objective To investigate the value of FISH in the detection of chromosomal abnormalities in villus tissue of spontaneous abortion. Methods FISH was used to detect the number of chromosomes of 100 cases of spontaneous abortion in early pregnancy. In some cases, the karyotype analysis of conventional cell culture was conducted at the same time, and the diagnostic results of the two methods were analyzed. Results 100 cases of villi specimens FISH detection success rate of 100%, the number of chromosome abnormalities in 42 cases, the detection rate of 42.00%. Twenty-three specimens were cultured at the same time. The successful rate of culture was 91.30% (21/23). The abnormal chromosome ratio of karyotype analysis was 61.91% (13/21), of which aneuploidy accounted for 84.61% (11/13). The coincidence rate between FISH test and karyotype analysis was 100%, and the misdiagnosis rate was 23.08% (3/13). Conclusion FISH has the advantages of high sensitivity, specificity, rapid diagnosis and low requirements for specimens, but the rate of misdiagnosis is high. The karyotype analysis and FISH detection of the proposed conditions permit simultaneously.