非侵入性产前检测：在科学、技术和临床应用的良性循环中不断发展。
Noninvasive prenatal testing: Advancing through a virtuous circle of science, technology and clinical applications.
机构信息
Centre for Novostics, Hong Kong Science Park, New Territories, Hong Kong SAR, China.
Li Ka Shing Institute of Health Sciences and Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, New Territories, Hong Kong SAR, China.
出版信息
Prenat Diagn. 2021 Sep;41(10):1190-1192. doi: 10.1002/pd.5978.
BACKGROUND
Since the discovery of cell-free fetal DNA in maternal blood in 1997, the interplay of basic scientific observations and technological developments have continued to drive new clinical applications in the field.
AIMS
This commentary discusses a number of examples in this virtuous circle of science, technology and clinical applications. MATERIALS & METHODS: Commentary and literature review.
RESULTS
One example of technological developments is the detection technologies for detecting circulating DNA, moving from conventional PCR, to real-time PCR, to massively parallel sequencing. One example of basic scientific understanding is the size and fragmentation patterns of circulating DNA.
DISCUSSION
Beyond creating a global paradigm in prenatal medicine, the development of noninvasive prenatal testing has also impacted other areas such as cancer screening and transplantation monitoring. Finally, the commentary looks forward to what might be in store in the next decade.
背景
自 1997 年在母体血液中发现无细胞胎儿 DNA 以来，基础科学观察和技术发展的相互作用不断推动该领域新的临床应用。
目的
本评论讨论了这一良性循环中的一些例子，即科学、技术和临床应用。
材料和方法
评论和文献回顾。
结果
技术发展的一个例子是检测循环 DNA 的检测技术，从传统的 PCR 发展到实时 PCR，再到大规模平行测序。基础科学理解的一个例子是循环 DNA 的大小和碎片化模式。
讨论
除了在产前医学领域创造了一个全球范例外，非侵入性产前检测的发展也对癌症筛查和移植监测等其他领域产生了影响。最后，评论展望了未来十年可能会出现的情况。
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