新生儿疾病筛查是近年来飞速发展的一个研究领域,筛查技术与手段多种多样,其中串联质谱(tandem mass spectrometry, MS/MS)技术因其具有快速、灵敏、高通量和选择性强等特点,提高了筛查效率及筛查特异性、敏感性,使得新生儿遗传代谢病筛查跨入了一个新纪元。本文就从该技术进行新生儿遗传代谢病筛查的原理、应用、存在的问题及其前景四个方面做一介绍。
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