The discovery of cell-free circulating fetal nucleic acids in maternal plasma has opened up new possibilities in non-invasive prenatal diagnosis. The rapid advancement of this field in the past decade is catalysed by the discovery of new classes of fetal nucleic acid markers and technological developments in nucleic acid detection and amplification. In this review, some of the more significant recent developments in this field will be discussed, including the detection of single molecule, chromosomal aneuploidies, single nucleotide variations and placental microRNAs in maternal plasma.
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Funding: The work performed in the authors’ laboratories is supported by the Hong Kong University Grants Committee Areas of Excellence Scheme, the Hong Kong Research Grants Council, the Innovation and Technology Fund, the Kadoorie Charitable Foundation, and the Li Ka Shing Foundation.
Competing interests: RWKC and YMDL have filed patent applications on aspects of circulating fetal nucleic acids in maternal plasma. YMDL is a consultant to Sequenom and has equities in Sequenom and Core Healthcare.