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Society of Reproductive Investigation (SRI)

66th Annual Scientific Meeting, March 12 - 16, 2019

Plasma Nucleic Acids in Health and Disease

Y. M. Dennis Lo, FRS
Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China

Thursday, March 14
8:10 a.m. - 9:00 a.m.

Cell-free fetal DNA in maternal plasma was first reported in 1997. Since then, this discovery has been translated into a new paradigm for non-invasive prenatal testing (NIPT). NIPT is now used worldwide for screening of fetal chromosomal aneuploidies. Emerging NIPT applications include monogenic disorders and even fetal whole genome, transcriptome and epigenome sequencing. Many aspects of the biology of circulating nucleic acids remain to be explored, including their characteristics, production, clearance and possible functions. Advances in NIPT have also accelerated our interest in applications of circulating nucleic acids in other fields, including cancer liquid biopsy and transplantation monitoring. In conclusion, circulating nucleic acids represent a treasure trove in molecular diagnostics with many exciting future developments.