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Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis. Current methods for definitive diagnosis rely on invasive procedures, such as chorionic villus sampling andExpand
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Hypermethylated RASSF1A in maternal plasma: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis.
BACKGROUND We recently demonstrated that the promoter of the RASSF1A gene is hypermethylated in the placenta and hypomethylated in maternal blood cells. This methylation pattern allows the use ofExpand
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Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma.
BACKGROUND The precise measurement of cell-free fetal DNA in maternal plasma facilitates noninvasive prenatal diagnosis of fetal chromosomal aneuploidies and other applications. We tested theExpand
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Effects of early corticosteroid treatment on plasma SARS-associated Coronavirus RNA concentrations in adult patients
Abstract Background: The effect of corticosteroid treatment on the viral load of Severe Acute Respiratory Syndrome (SARS) patientsExpand
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Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
Objectives To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinicallyExpand
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mRNA of placental origin is readily detectable in maternal plasma
  • E. K. Ng, N. Tsui, +6 authors Y. Lo
  • Medicine, Biology
  • Proceedings of the National Academy of Sciences…
  • 18 March 2003
The discovery of circulating fetal nucleic acid in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. Thus far, a gender- and polymorphism-independent fetal-specificExpand
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Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection
Current methods for prenatal diagnosis of chromosomal aneuploidies involve the invasive sampling of fetal materials using procedures such as amniocentesis or chorionic villus sampling and constituteExpand
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Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing
Significance Noninvasive prenatal testing (NIPT) using fetal DNA in maternal plasma has been rapidly adopted worldwide. Current NIPT for fetal chromosomal disorders are based on the counting of DNAExpand
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Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencingExpand
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Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients
Significance We used massively parallel sequencing to study the size profiles of plasma DNA samples at single-base resolution and in a genome-wide manner. We used chromosome arm-level z-scoreExpand
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