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Noninvasive Prenatal Diagnosis of Fetal Chromosomal Aneuploidies by Maternal Plasma Nucleic Acid Analysis

Noninvasive Prenatal Diagnosis of Fetal Chromosomal Aneuploidies by Maternal Plasma Nucleic Acid Analysis,10.1373/clinchem.2007.100016,Clinical Chemis

Noninvasive Prenatal Diagnosis of Fetal Chromosomal Aneuploidies by Maternal Plasma Nucleic Acid Analysis   (Citations: 13)
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BACKGROUND: The discovery of circulating cell-free fe- talnucleicacidsinmaternalplasmahasopenedupnew possibilities for noninvasive prenatal diagnosis. The potential application of this technology for the nonin- vasive prenatal detection of fetal chromosomal aneu- ploidies is an aspect of this field that is being actively investigated. The main challenge of work in this area is thefactthatcell-freefetalnucleicacidsrepresentonlya minor fraction of the total nucleic acids in maternal plasma. METHODS AND RESULTS: We performed a review of the literature, which revealed that investigators have ap- pliedmethodsbasedonthephysicalandmolecularen- richment of fetal nucleic acid targets from maternal plasma. The former includes the use of size fraction- ation of plasma DNA and the use of the controversial formaldehyde treatment method. The latter has been achieved through the development of fetal epigenetic and fetal RNA markers. The aneuploidy status of the fetus has been explored through the use of allelic ratio analysis of plasma fetal epigenetic and RNA markers. Digital PCR has been shown to offer high precision for allelic ratio and relative chromosome dosage analyses. CONCLUSIONS: After a decade of work, the theoretical and practical feasibility of prenatal fetal chromosomal aneuploidy detection by plasma nucleic acid analysis has been demonstrated in studies using small sample sets. Larger scale independent studies will be needed to validate these initial observations. If these larger scale
Journal: Clinical Chemistry - CLIN CHEM , vol. 54, no. 3, pp. 461-466, 2008
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