Noninvasive prenatal testing: Advancing through a virtuous circle of science, technology and clinical applications. (29th September 2021) - Lo, Y. M. Dennis
Abstract: 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. Key points: What's already known about this topic? Cell‐free fetal DNA in maternal plasma was discovered in 1997. Noninvasive prenatal testing (NIPT) based on this discovery has now been used globally by millions of pregnant women annually. What does this study add? This commentary highlights the positive synergy between basic scientific discoveries, technological advances and clinical translations over the last 24 years. This commentary discusses the cross‐disciplinary impact of NIPT to other fields, including oncology and transplantation. This commentary discusses emerging developments, including cell‐free DNA fragmentomics, single cell genomics and cell‐free NIPT.