Genomic Analysis of Plasma DNA in Prenatal Medicine and Beyond

Abstract

The discovery of cell-free fetal DNA in maternal plasma has enabled the development of noninvasive prenatal testing (NIPT). With the increased use of NIPT globally, there have been a number of reports of plasma DNA aberrations that have orignated from maternal malignancies, rather than signifying genomic aberrations in the fetus. In this regard, it would be highly desirable to develop a technology for tracing the tissue of origin of genomic aberrations observed in plasma. Hence, we have developed a technology called plasma DNA tissue mapping which allows this to be achieved. Through the development of over 5800 methylation markers, we are able to deduce the tissue of origin of plasma DNA molecules. We have demonstrated the utility of this approach by tracing genomic aberrations observed in the plasma of a pregnant woman during the course of NIPT to a B-cell lymphoma. We believe that this technology would be broad applications in medical research and diagnostics. DisclosuresLo:Cirina Limited: Equity Ownership, Membership on an entity’s Board of Directors or advisory committees, Patents & Royalties; Xcelom Limited: Equity Ownership, Membership on an entity’s Board of Directors or advisory committees, Patents & Royalties; Illumina: Patents & Royalties; Sequenom: Consultancy, Equity Ownership, Membership on an entity’s Board of Directors or advisory committees, Patents & Royalties.