Circulating Fetal Cell-Free DNA Fractions Differ in Autosomal Aneuploidies and Monosomy X

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Clinical perspective of cell-free DNA testing for fetal aneuploidies.

Cell-free DNA testing in maternal blood provides the most effective method of screening for trisomy 21, with a reported detection rate of 99% and a false positive rate of less than 0.1%. After many years of research, this method is now commercially available and is carried out in an increasing number of patients, and there is an expanding number of conditions that can be screened for. However, ...

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Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell-Free Fetal DNA - 5/26/17

National guidelines recommend that all pregnant women be offered screening for fetal chromosomal abnormalities, the majority of which are aneuploidies (an abnormal number of chromosomes). The trisomy syndromes are aneuploidies involving 3 copies of 1 chromosome. Trisomies 21 (T21), 18 (T18), and 13 (T13) are the most common forms of fetal aneuploidy that survive to birth. Noninvasive prenatal s...

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Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis.

OBJECTIVE To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies. METHODS Searches of PubMed, EMBASE and The Cochrane Library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January...

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Isolation of cell free fetal DNA (cffDNA) from maternal serum usually leads to very low concentrations of DNA impeding further resolving through conventional methods of electrophoresis. Although several protocols have been described for capillary electrophoresis (CE) of double stranded DNA, they usually need using special polymers or coated capillaries which degrade over time. Herein, we propos...

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ژورنال

عنوان ژورنال: Clinical Chemistry

سال: 2014

ISSN: 0009-9147,1530-8561

DOI: 10.1373/clinchem.2013.207951