122份稽留流产绒毛的FISH检测与染色体核型分析结果的对比

Comparison of FISH and chromosome karyotype analysis in 122 missed abortion villi

目的探讨FISH和核型分析在遗传检测稽留流产绒毛组织中的优势与不足。方法应用13、16、18、21、22、X、Y七条染色体特异性FISH探针对122例稽留流产绒毛进行杂交检测,同时进行细胞培养和核型分析。结果122例标本中,绒毛细胞核型分析98例,成功率80.3%,发现异常核型49例,阳性率达50.0%;FISH检测成功率100%,数目异常35例,阳性率为28.7%。结论FISH可以快速、准确地诊断染色体数目异常,成功率高,但无法检测结构异常,易受母体血和胎盘组织污染,核型分析可以检测所用染色体的数目和结构异常,但需要培养细胞,时间长,成功率不及FISH,但准确性高。

Objective:To investigate the advantages and disadvantages of FISH and karyotype analysis in genetic detection of missed abortion villi.Methods:A total of 7 chromosomal specific FISH probes were used to detect 122 missed abortive villi by hybridization,cell culture and karyotype analysis.Results:Among 122 specimens,98 cases were analyzed by nuclear type analysis of villi,the success rate was 80.3%,49 cases were found abnormal karyotype,the positive rate was 50.0%,the positive rate of fish detection was 100%,the number of abnormal cases was 35 cases,the positive rate was 28.7%.Conclusion:FISH can quickly and accurately diagnose the abnormal chromosome number,and the success rate is high,but it can not detect the abnormal structure.It is easy to be contaminated by maternal blood and placenta tissue.Karyotype analysis can detect the number and structure of the chromosomes used.But the cells need to be cultured,the time is long,the success rate is not as good as FISH,but the accuracy is high.