3812份羊水细胞的快速诊断与染色体核型分析的联合产前检测结果分析

Analysis on joint prenatal detection results of rapid diagnosis of amniotic fluid cells and chromosomal karyotyping: 3 812 cases

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 explore the significance of rapid prenatal diagnosis combined with chromosomal karyotyping in prenatal diagnosis of fetal chromosomal diseases. Methods Fluorescence in situ hybridization （FISH） and multiplex ligation-dependent probe am- plification technology （MLPA） were used for rapid prenatal diagnosis of amniotie fluid cells among 3 812 pregnant women with prenatal diag- nosis indications, chromosomal karyotyping of corresponding specimens was conducted. Results Joint detection found that 128 patients were found with changes of chromosomal polymorphism, accounting for 3.36% of all the chromosomal karyotypes （ 128/3 812） ; 137 patients were found with abnormal karyotypes, the detection rate was 3.59% （137/3 812） . FISH and MLPA found 94 patients with common chromo- somal aneuploidy numerical abnormality within 48 hours, accounting for 68.61% （94/137） , which was coincidence with the results of chro- mosomal karyotyping; chromosomal karyotyping found 38 patients with chromosomal structural abnormalities （27.74%） and 5 patients with marker chromosomes （3.65 % ） after three weeks. Conclusion FISH and MLPA combined with chromosomal karyotyping have high clinical application value in diagnosis of fetal chromosomal diseases.