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在过去的10年中,临床细胞遗传学有了显著的进步,分子生物技术被应用到了常规染色体分析。这些新技术的应用解决了传统核型显带分析在准确诊断和解释某些染色体的技术上的缺陷,这些新技术包了荧光原位杂交(fluorescence in situ hybridization,FISH)、多色荧光原位杂交(Multicolor-fluorescence in situ hybridization,M-FISH)、光谱核型分析(Spectral karyotyping,SKY)、比较基因组杂交(comparative genomic hybridization,CGH)和微阵列基因组杂交(array comparative genomic hybridization,aCGH)。每1种技术都有特定的检测范围与限制。本文对这些技术的特点及它们的在产前诊断的应用综述。
In the past 10 years, clinical cytogenetics has made significant progress, molecular biotechnology has been applied to conventional chromosome analysis. The application of these new technologies solves the technical defects of traditional karyotype analysis in the accurate diagnosis and interpretation of certain chromosomes. These new technologies include fluorescence in situ hybridization (FISH), multi-color fluorescence in situ (M-FISH), Spectral karyotyping (SKY), comparative genomic hybridization (CGH) and array comparative genomic hybridization (aCGH). Each type of technology has a specific detection range and limit. This article reviews the characteristics of these technologies and their applications in prenatal diagnosis.