染色体嵌合现象一直是产前诊断中的难点之一,受到标本来源、实验室体外培养等因素影响,且临床结局多样,给遗传咨询带来困难。针对这些问题,本文将对产前诊断中嵌合体的类型、机制、实验室评估方法、侵入性诊断技术,在遇到嵌合体时的处理方式以及嵌合体现象对无创产前检测与核型诊断不一致的影响作一综述。 Chromosome chimerism has been one of the difficulties in prenatal diagnosis, which is affected by factors such as specimen source and laboratory culture, and clinical outcomes are diverse, posing difficulties for genetic counseling. In response to these problems, this article will prenatal diagnosis of chimera in the type, mechanism, laboratory evaluation methods, invasive diagnostic techniques in the encounter chimera treatment and chimerism phenomenon of non-invasive prenatal detection and karyotype diagnosis A summary of the effects of inconsistencies.