采用微阵列-比较基因组杂交进行产前诊断的局限性和困难

应用微阵列-比较基因组杂交(microarray comparative genomic hybridization,aCGH)技术检测基因拷贝数变异(copy Bumber variation,CNV)可对染色体亚微结构异常进行定位,在研究领域和临床实验室中迅速成为一个了解基因和患者遗传病因的有力的工具.由于它在产前诊断上的应用时间较短,目前对aCGH是否可以作为产前诊断工具及其潜在的不确定性存在比较大的争议.此外,对于大多数CNV的表型效应还知之甚少,因此,临床医生向患者进行解释的难度很大,导致许多临床医生拒绝以临床诊断为目的使用aCGH.根据已知的与临床疾病密切相关的一些区域定制的寡核苷酸芯片应运而生,可以降低这种不确定性,在过量信息和信息量不足之间寻求到了一个平衡.本综述的目的是从临床医生的角度探讨aCGH技术用于产前诊断所面临的问题和应用前景.

Abstract：

Subchromosomal abnormalities can be positioned by the detection of copy number variation (CNV) using microarray comparative genomic hybridization (aCGH). aCGH has become a powerful tool in understanding the association between gene and genetic etiology in both research and clinical laboratories.Meanwhile as a new technique, controversies inevitably arose in its clinical application. As for the phenotype of CNV, little has been disclosed. For the clinicians, the difficulty in explanation of the CNV to the patients is obvious, which makes many doctors refuse to use aCGH for clinical diagnosis. Customized arrays have been exploited to decrease the uncertainty and efforts to search for a balance between overloaded information and insufficient information have been made. The purpose of this review is to discuss the current limitations and difficulties on application of aCGH in prenatal diagnosis and its application prospect from the point of a clinician.

Current limitations and difficulties in application of microarray comparative genomic hybridization in prenatal diagnosis

Subchromosomal abnormalities can be positioned by the detection of copy number variation (CNV) using microarray comparative genomic hybridization (aCGH). aCGH has become a powerful tool in understanding the association between gene and genetic etiology in both research and clinical laboratories.Meanwhile as a new technique, controversies inevitably arose in its clinical application. As for the phenotype of CNV, little has been disclosed. For the clinicians, the difficulty in explanation of the CNV to the patients is obvious, which makes many doctors refuse to use aCGH for clinical diagnosis. Customized arrays have been exploited to decrease the uncertainty and efforts to search for a balance between overloaded information and insufficient information have been made. The purpose of this review is to discuss the current limitations and difficulties on application of aCGH in prenatal diagnosis and its application prospect from the point of a clinician.