Results 1 to 10 of about 3,638 (166)
Scientific ReportsThis retrospective study analyzed 306 pregnant women, with 182 undergoing genetic testing using NIPT plus and CMA, and 124 undergoing standard NIPT and CMA. The study aimed to compare the clinical performance of NIPT and NIPT plus in prenatal evaluation by using CMA as the gold standard to assess the diagnostic efficiency of the two screening methods ...
Meilin Chen +7 more
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Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples [PDF]
PLOS Computational Biology, 2021 AbstractMotivationNon-invasive prenatal testing (NIPT) is a powerful screening method for fetal aneuploidy detection, relying on laboratory and computational analysis of cell-free DNA. Although several published computational NIPT analysis tools are available, no comprehensive and direct accuracy comparison of these tools is published.
Paluoja, Priit +7 more
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eLife, 2021 We developed genetic-epigenetic tissue mapping (GETMap) to determine the tissue composition of plasma DNA carrying genetic variants not present in the constitutional genome through comparing their methylation profiles with relevant tissues.
Wanxia Gai +18 more
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Autophagy Induced by Proteasomal DUB Inhibitor NiPT Restricts NiPT-Mediated Cancer Cell Death [PDF]
Frontiers in Oncology, 2020 Ubiquitin-proteasome system (UPS) and autophagy-lysosome pathway (ALP) are two major systems for protein quality control (PQC) in eukaryotic cells. Interconnectivity between these two pathways has been suggested, but the molecular detail of how they impact each other remains elusive.
Jinghong Chen +11 more
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A Cost-Effectiveness Analysis of First Trimester Non-Invasive Prenatal Screening for Fetal Trisomies in the United States. [PDF]
PLoS ONE, 2015 Non-invasive prenatal testing (NIPT) is a relatively new technology for diagnosis of fetal aneuploidies. NIPT is more accurate than conventional maternal serum screening (MSS) but is also more costly.
Brandon S Walker +5 more
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Human Genomics, 2021 Objective To evaluate the performance of noninvasive prenatal testing (NIPT) and NIPT-PLUS for the detection of genome-wide microdeletion and microduplication syndromes (MMSs) at different sequencing depths.
Jiexia Yang +8 more
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Why NIPT should be publicly funded [PDF]
Journal of Medical Ethics, 2020 Asking pregnant women to (co)pay for non-invasive prenatal testing (NIPT) out of pocket leads to unequal access across socioeconomic strata. To avoid these social justice issues, first-trimester prenatal screening should be publicly funded in countries such as the Netherlands, with universal coverage healthcare systems that offer all other antenatal ...
Bunnik, Eline maria +3 more
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Molecular Cytogenetics, 2022 Background Non-invasive prenatal testing (NIPT) has had an incomparable triumph in prenatal diagnostics in the last decade. Over 1400 research articles have been published, predominantly praising the advantages of this test.
Thomas Liehr
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Molecular Syndromology, 2015 After the discovery by Lejeune et al. in 1959 that patients with ‘mongolism’, i.e. Down syndrome, had 3 instead of 2 copies of chromosome 21, a surge of karyotyping resulted in the identification of an aberrant chromosome number as the cause of numerous genetic disorders [Lejeune et al., 1959; Lejeune and Turpin, 1961]. By culturing cells from amniotic
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The Effect of Pain Neuroscience Education in the Treatment of Fibromyalgia: A Narrative Review [PDF]
Journal of Clinical and Diagnostic ResearchPain Neuroscience Education (PNE) is a widely used approach for educating patients with chronic musculoskeletal conditions. It has shown significant improvements in pain levels, disability and psychosocial outcomes, particularly when combined with ...
H Shrinidhi Hebbar +1 more
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