MLPA技术联合染色体核型分析在胎儿非整倍体异常检测中的研究与应用

Research and application of combined multiplex ligation-dependent probe amplification (MLPA) and chromosome karyotype analysis for the prenatal diagnosis of fetal chromosomes aneuploid abnormalities

目的探讨多重连接依赖探针扩增技术(multiplex ligation—dependent probe amplification,MLPA)联合染色体核型分析在染色体非整倍体异常诊断中的应用价值。方法收集290例符合产前诊断指征孕妇的羊水标本,同时采用MLPA技术和核型分析技术对这些标本进行染色体非整倍体产前诊断。结果两种方法联合检测共发现:21-三体3例,嵌合体3例,染色体结构异常13例。290例MLPA方法检测的结果均在核型分析之前得出,其中289例结果与核型分析结果完全一致,1例45,X嵌合体未能检测出,符合率为99.6%。结论 MLPA快速诊断技术与核型分析联合应用,可以实现优势互补,在产前诊断染色体病方面具有良好的应用价值。

Objective：To explore the application value of combined multiplex ligation-dependent probe amplification（MLPA）and chromosome karyotype analysis for the prenatal diagnosis of chromosomes aneuploid abnormalities. Methods：A total of 290 prenatal samples of amniotic fluids were collected from pregnant women with indications of prenatal diagnosis. All prenatal samples were analyzed using MLPA technology and karyotype for prenatal diagnosis. Results：Three cases of trisomy 21,three cases of chimerism and thirteen cases of structural chromosomal abnormalities were found by two methods Joint detection. The MLPA detection results of 290 samples were all finished before karyotyping′s. The results of 289 by MLPA method were consistent with that by karyotype analysis.Only one case with 45,X chimerism was failed to detected by MLPA.The accurate rate was 99.6%. Conclusion：MLPA combined with chromosomal karyotyping could complement each other to achieve a high application value in prenatal diagnosis of chromosomal diseases.