分类号：R394.2
出版年·卷·期（页码）：2014·6·第1期（5-8）
DOI:
20140102
-----摘要：-------------------------------------------------------------------------------------------
目的 对比多重连接探针扩增（Multiplex ligation-dependent probe amplification，MLPA）与染色体核型分析技术，明确两种技术在流产绒毛样本检测中的效能，以期建立最优化的实验室检测方案。方法 采集189例稽留流产绒毛样本，同步行MLPA (SALSA P290-B1)和常规染色体核型分析检测，并对检测结果进行统计分析。结果 两种方法综合分析成功187例，占98.94%。其中核型分析成功117例，占61.90%；MLPA能够检测185例，占97.88%。核型分析与MLPA结论一致70例，占37.04%；42例多倍体或非探针目标区染色体异常，MLPA未能检出，占其独立检测样本的22.70%（42/185）；72例因培养失败等因素未能成功核型分析，占38.10%。结论 ①独立采用核型分析或MLPA技术均不能有效实现流产绒毛染色体异常的检测分析。②综合考虑检测成本和效能，先行染色体核型分析并同时留取流产绒毛样本，应用MLPA作为核型分析失败的补充方案具有临床可行性。
-----英文摘要：---------------------------------------------------------------------------------------
Objective To establish optimized laboratory testing proposal through comparison of multiplex ligation-dependent probe amplification (MLPA) and conventional karyotyping for the diagnosis of pregnancy loss. Method A cohort of 189 patients underwent side-by-side analysis of chorionic villi samples by both conventional karyotyping and MLPA (SALSA P290-B1) with direct comparison of results. Results 187 samples(98.94%) were analyzed successfully by conventional karyotyping and MLPA. 117 samples (61.90%) were analyzed successfully only by karyotyping and 185 samples (97.88%) were analyzed only by MLPA. 70 samples (37.03%) yielded the same ?ndings with both MLPA and cytogenetic results . 42 samples (22.70% in the MLPA alone samples) were not detected because of inability to characterize structural rearrangements or ploidy changes. 72 samples (38.10%) had no cytogenetic results due to culture failures where MLPA results were available. Conclusions ①Chromosomal abnormalities can’t be detected effectively in single method whether MLPA or conventional karyotyping .②Considering the cost and efficiency, the optimal situation would be to have MLPA available in the laboratory as the complementary examination of the conventional karyotyping.
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王玮,李海波,刘敏娟,段程颖,毛君,孙健,丁杨,陈瑛,李红.比较MLPA与细胞遗传学技术在流产绒毛染色体分析中的应用.中国产前诊断杂志,2014,6(1):5-8.
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