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Extracellular Nucleic Acids pp 147–166Cite as

Biology and Diagnostic Applications of Cell-Free Fetal Nucleic Acids in Maternal Plasma

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Part of the book series: Nucleic Acids and Molecular Biology ((NUCLEIC,volume 25))

Abstract

The discovery of cell-free fetal nucleic acids in maternal plasma in 1997 has opened up new possibilities for noninvasive prenatal diagnosis. Since then, many of the fundamental biological parameters of this phenomenon have been elucidated, including the effects of gestational age, the size of the circulating nucleic acid molecules, and their rapid clearance following delivery. A variety of circulating fetal nucleic acid markers have also been developed, including fetal genetic, epigenetic, mRNA, and miRNA markers. A number of exciting new technologies have been developed for their analysis, including single molecule counting technologies, such as digital PCR and massively parallel sequencing. Together, these developments have culminated in a number of prenatal diagnostic applications, including fetal sexing, RhD blood group genotyping, monogenic disease analysis, and the detection of fetal chromosomal aneuploidies. It is hoped that such advances will ultimately make prenatal testing safer for pregnant women and their fetuses.

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Authors and Affiliations

  1. Li Ka Shing Institute of Health Sciences and Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China

    Jason C. H. Tsang & Y. M. Dennis Lo

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  1. Jason C. H. Tsang
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  2. Y. M. Dennis Lo
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Correspondence to Y. M. Dennis Lo .

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  1. , Dept. of Environmental and Life Sciences, Toyohashi University of Technology, Toyohashi-city, 441-8580, Japan

    Yo Kikuchi

  2. Fundamental Medicine, Institute of Chemical Biology and, Lavrentjeva Prospect 8, Novosibirsk, 630090, Russian Federation

    Elena Y. Rykova

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Tsang, J.C.H., Lo, Y.M.D. (2010). Biology and Diagnostic Applications of Cell-Free Fetal Nucleic Acids in Maternal Plasma. In: Kikuchi, Y., Rykova, E. (eds) Extracellular Nucleic Acids. Nucleic Acids and Molecular Biology, vol 25. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-12617-8_9

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