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

A Comparison of Multiplex Ligation-dependent Probe Amplification and Conventional Karyotyping for the Diagnosis of Pregnancy Loss

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。

Objective To establish optimized laboratory testing proposal through comparison of multi-plex 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 sam-ples 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 ana-lyzed only by MLPA.70 samples (37.03%)yielded the same findings with both MLPA and cytogenetic results.42 samples (22.70% in the MLPA alone samples)were not detected because of inability to char-acterize 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 comple-mentary examination of the conventional karyotyping.