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目的探讨快速诊断技术联合染色体核型分析在胎儿染色体病产前诊断中的意义。方法利用荧光原位杂交(FISH)和多重连接依赖探针扩增技术(MLPA)对3 812例有产前诊断指征的孕妇羊水细胞进行快速产前诊断,同时对相应标本进行染色体核型分析。结果通过联合检测共发现:染色体多态性改变128例,占总染色体核型的3.36%(128/3 812);异常核型137例,异常检出率为3.59%(137/3 812)。其中:1FISH及MLPA快速诊断可于48 h内快速检出常见染色体非整倍体数目异常94例,占异常核型的68.61%(94/137),与之后的染色体核型分析结果一致;2染色体核型分析:于3周后可检出分别占异常核型的27.74%(38/137)、3.65%(5/137)的染色体结构畸变和标记染色体。结论应用FISH和MLPA快速诊断技术,联合染色体核型分析进行胎儿染色体病的诊断,具有良好的临床应用价值。
Objective To investigate the significance of rapid diagnostic techniques combined with karyotype analysis in prenatal diagnosis of fetal chromosomal diseases. Methods A total of 3812 pregnant women with prenatal diagnosis of prenatal diagnosis of prenatal diagnosis of amniotic fluid cells were analyzed by fluorescence in situ hybridization (FISH) and multiplex-linked probe-based amplification (MLPA). Meanwhile, chromosome karyotype analysis . Results A total of 128 chromosome polymorphisms were detected in 128 cases (128/3 812). There were 137 abnormal karyotypes and the abnormality rate was 3.59% (137/3 812). Among them: 1FISH and MLPA rapid diagnosis can quickly detect the number of common chromosome aneuploidy in 94 cases, accounting for 68.61% (94/137) abnormal chromosomes, consistent with the results of chromosome karyotype analysis; 2 Chromosomal karyotype analysis: 27.74% (38/137) and 3.65% (5/137) of chromosomal structural aberrations and marker chromosomes were detected after 3 weeks. Conclusion FISH and MLPA rapid diagnostic techniques, combined with chromosome karyotype analysis of fetal chromosome disease diagnosis, has good clinical value.