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香港中文大学教授卢煜明在1997年和1998年的工作中发现,母体血液中存在着胎儿的游离DNA。基于这些早期发现,卢煜明展开了一系列前沿工作来研究这些胎儿游离DNA的特性,证明了使用胎儿游离DNA来诊断遗传性疾病的可行性和实际性,最终开创了利用第二代基因测序来检测唐氏综合症的新途径,并在90多个国家得到了应用。仅在中国,每年就有超过一百万孕妇接受这项测试。这种革命性的方法为全球无数的孕妇提供了无创产前诊断

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