Results 11 to 20 of about 3,827 (184)
Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples [PDF]
PLOS Computational Biology, 2021 Abstract Motivation Non-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 ...
Paluoja, Priit +7 more
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Impact of Maternal Body Mass Index (BMI) on the Performance of Non-Invasive Prenatal Testing (NIPT). [PDF]
Prenat DiagnABSTRACT Objective Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal trisomies. Fetal fraction (FF), essential for NIPT accuracy, can be influenced by maternal obesity. This study analyzes NIPT results by obesity status and suggests strategies to improve performance. Method This observational retrospective study evaluated FF,
Valovicova K +10 more
europepmc +2 more sources
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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Discordant fetal sex on NIPT and ultrasound [PDF]
Prenatal Diagnosis, 2020 AbstractPrenatal diagnosis of sex discordance is a relatively new phenomenon. Prior to cell‐free DNA testing, the diagnosis of a disorder of sexual differentiation was serendipitous, either through identification of ambiguous genitalia at the midtrimester morphology ultrasound or discovery of genotype‐phenotype discordance in cases where ...
Maria‐Elisabeth Smet +2 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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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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Study of phase stability in NiPt systems [PDF]
Journal of Physics: Condensed Matter, 2003 We have studied the problem of phase stability in NiPt alloy system. We have used the augmented space recursion based on the TB-LMTO as the method for studying the electronic structure of the alloys. In particular, we have used the relativistic generalization of our earlier technique. We note that, in order to predict the proper ground state structures
Paudyal, Durga +2 more
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More than an Incidentaloma: The Nonreportable NIPT
Case Reports in Obstetrics and Gynecology, 2022 Noninvasive prenatal testing (NIPT), which utilizes a maternal blood sample to detect fetal gender and screen for fetal aneuploidy (abnormal chromosomes), is widely used in obstetrics to screen for Trisomies 21, 18, and 13. Per the literature, approximately 0.3% of pregnant woman’s results are nonreportable.
Allison M. Jay +3 more
openaire +3 more sources
Adoption of a non-invasive prenatal test (NIPT) in prenatal screening in Moscow: first results
Russian Open Medical Journal, 2021 The objective — To assess the effectiveness of including NIPT in the structure of prenatal diagnostics in Moscow. Material and Methods — Totally 5,181 pregnancies undergoing screening for fetal trisomy using NIPT during the period from 01.04.2020 to 30 ...
Anton S. Olenev +7 more
doaj +1 more source
Predicting fetal growth retardation: mathematical modeling
Акушерство, гинекология и репродукция, 2023 Introduction. Annually, more than 13 million neonates are born with fetal growth retardation (FGR) worldwide. FGR increases prenatal mortality and morbidity.
E. V. Kudryavtseva +3 more
doaj +1 more source