产前诊断是预防遗传病患儿出生的主要途径。随着分子生物学的进展,新的产前诊断技术与方法不断涌现出来,从经典的荧光原位杂交(FISH)、聚合酶链反应(PCR)到基因芯片及多重连接依赖式探针扩增技术(MLPA)、比较基因组杂交(CGH)等分子生物学技术,使产前诊断技术不断趋于完善、准确和简便。文章就各种分子生物学技术在产前诊断中的应用作一简单介绍。 Prenatal diagnosis is the main way to prevent the birth of children with genetic diseases. With the progress of molecular biology, new prenatal diagnostic techniques and methods are emerging. From classical fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR) to gene chip and multiplex ligation-dependent probe amplification Technology (MLPA), comparative genomic hybridization (CGH) and other molecular biology techniques to make prenatal diagnostic techniques continue to improve, accurate and easy. The article gives a brief introduction of the application of various molecular biology techniques in prenatal diagnosis.