Chemical Diagnostics

Volume 336 of the series Topics in Current Chemistry pp 47-65


Clinical Applications of the Latest Molecular Diagnostics in Noninvasive Prenatal Diagnosis

  • K. C. Allen ChanAffiliated withDepartment of Chemical Pathology, The Chinese University of Hong Kong Email author 

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The presence of cell-free fetal DNA in the plasma of pregnant women has opened up the possibility of noninvasive prenatal diagnosis. With the advances in molecular techniques of microfluidics and massive parallel sequencing, an increasing number of fetal genetic diseases/conditions can be noninvasively detected using maternal plasma DNA analysis. Remarkably, it has recently been shown that the genome-wide genetic map of an unborn fetus can be constructed through extensive sequencing of maternal plasma DNA. In this chapter the different qualitative and quantitative approaches and related methodology for the analysis of fetal DNA in maternal plasma are discussed.


Noninvasive prenatal diagnosis Circulating fetal DNA Plasma DNA Aneuploidy detection Down syndrome Relative mutation dosage analysis RMD Relative haplotype dosage RHDO