Prenatal Screening for Fetal Aneuploidy
Abstract
2105 13176
Prenatal Screening for Fetal Aneuploidyby
Abstract
Prenatal genetic aneuploidy screening approaches are designed to identify pregnant patients at increased risk of having a fetus affected. Conventional prenatal screening has consisted in providing women a risk estimate of having a pregnancy affected with trisomy 21 or trisomy 18 based on maternal age and analysis of serum markers and ultrasound nuchal translucency (NT) measurement. In 2011, the introduction of cell-free DNA (cfDNA) based screening into clinical practice has provided new options for aneuploidy scree [...] 2105 13176 |
Avoiding the Technological Imperative: Criteria for Genetic Screening Programsby
Abstract
Genetic screening is the process of systematically evaluating a defined population for genetic conditions or predispositions, in the hope of providing benefit to those with a positive result. With advances in sequencing technology, genetic screening is moving from phenotype-based to genotype-based testing. Although sequencing technology offers expanded opportunities for early identification of disease, the availability of a suitable and acceptable test is not a sufficient justification to proceed: established crite [...] 2272 11455 |
Carrier Screening for the Haemoglobinopathies: Past, Present and Futureby
Abstract
Carrier screening for the haemoglobinopathies has undergone many technological improvements in haematological and molecular diagnostic techniques since the first prenatal diagnoses by DNA analysis in the 1970s by Southern blot analysis enabled the implementation of effective successful prevention programmes for beta thalassaemia involving public education, carrier screening, genetic counselling and prenatal diagnosis in Mediterranean countries. The application of a wide variety of PCR-based molecular diagnostic tec [...] 2499 21282 |
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An Introduction to Molecular Anthropology. By Mark Stoneking. Wiley-Blackwell: Hoboken, NJ, USA, 2017; $129.95; ISBN: 978-1-118-06162-6.Abstract
Mark Stoneking, who is a member of the Editorial Board of OBM Genetics has written a textbook on molecular anthropology 1830 8917 |
Mechanisms of Origin and Clinical Effects of Multiple Small Supernumerary Marker Chromosomes, Each Derived from a Different ChromosomeAbstract
Small supernumerary marker chromosomes (sSMCs) are centric chromosome fragments additionally present in an otherwise normal human chromosome set that cannot be characterized by classical cytogenetic techniques alone. The majority of sSMCs are not yet related to a defined clinical phenotype. We compiled from the literature all 78 cases with multiple sSMCs per cell in which the chromosomal origin of the sSMCs has been identified. The number of sSMCs varies from 2 to 7; 64% have 2 sSMCs, 14% have 3 sSMCs, and the freq [...] 2058 13095 |
Pyrolysis of Discarded Chewing Gum for Acetic Acid RecoveryAbstract
Chewing gum, typically discarded indiscriminately, is a significant source of urban solid waste with waste that persist for long period. When in contact with notoriously recyclable materials, it can hinder their recycling processes due to its high post-consumer adhesion, leaving only the non-soluble phase. This gum base is commonly composed of polyvinyl acetate (PVAc). In this context, considering what is done for the recycling of other polymers, the pyrolysis of discarded chewing gum was conducted through a series [...] 319 826 |
Novel Microporous Iron(III) Oxide and Silver Oxide Chromolaena odorata Leaf Biochar Nanocomposite for the Treatment of Well Waterby
Abstract
In this study, iron(III) oxide-Chromolaena odorata leaf biochar nanocomposite (Fe2O3-COLBN) and silver oxide-Chromolaena odorata leaf biochar nanocomposite (Ag2O-COLBN) were prepared and used for the treatment of well water for household use. The fabricated nanocomposites and the pyrolyzed Chromolena odorata leaf biochar were characterized using UV-Vis spectroscopy, Scanning Electron Microscopy coupled with Energy Dispersive X-ray spectroscopy (SEM/EDX), X-ray Diffraction (XRD), Fourier Transform Infrared Spectrosc [...] 268 738 |
Preparation and Characterization of Bimetallic Nanocatalyst Supported on Activated Carbon Prepared from Papaya SeedsAbstract
Preparation and characterization of an iron-tin bimetallic nanocatalyst supported on activated carbon (AC) prepared from papaya seeds, which was previously available in the surrounding environment, were performed. Different characterization techniques such as scanning electron microscopy (SEM), FT-IR spectrometry, and UV-Vis spectrophotometry were used. Many properties were characterized, and the resulting activated carbon could serve as an inexpensive catalytic support with a high surface area and a large micropor [...] 361 1174 |
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