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- Dondorp, W., et al.
(author)
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Non-invasive prenatal testing for aneuploidy and beyond : challenges of responsible innovation in prenatal screening
- 2015
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In: Eur J Hum Genet. - : Springer Science and Business Media LLC. ; 23:11, s. 1438-1450
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Journal article (peer-reviewed)abstract
- This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non-laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.
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- Henneman, L., et al.
(author)
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Responsible implementation of expanded carrier screening
- 2016
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In: Eur J Hum Genet. - : Springer Science and Business Media LLC. ; 24:6, s. E1-E12
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Journal article (peer-reviewed)abstract
- This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.
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- Nilsson, Annika, 1969, et al.
(author)
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Optical properties of human whole blood - Changes due to slow heating
- 1996
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In: LASER-TISSUE INTERACTION AND TISSUE OPTICS II, PROCEEDINGS OF. - : SPIE. - 0819423254 ; 2923, s. 24-34
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Conference paper (peer-reviewed)abstract
- Optical properties of human whole blood were measured in vitro, at 633 nm with a double integrating sphere set-up, The blood was kept at constant flow through a flow cell while slowly heating the blood from approximately 25 degrees C to 55 degrees C in a heat exchanger, The results show a small but distinct decrease in the g-factor of 1.7 +/- 0.6\% and a similar increase in the scattering coefficient, mu(s), of 2.9 +/- 0.6\% at approximately 45-46 degrees C. When studying the thermal effect on the blood cells under a white-light transmission microscope, the changes in the scattering properties could be correlated to a sudden change in the shape of the red blood cells, from disc-shaped to spherical, at approximately the same temperature. Furthermore, a continuous manifest increase in the absorption coefficient, mu(a), was seen with temperature rise, on average 83.8 +/- 68.1\% when reaching the temperature 50 degrees C. This might be due to heat-induced haemolysis of the red blood cells, resulting in free light absorbing haemoglobin in the surrounding plasma and thus higher effective light absorption.
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- Clark, M. S., et al.
(author)
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Multi-omics for studying and understanding polar life
- 2023
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In: Nature Communications. - : NATURE PORTFOLIO. - 2041-1723. ; 14
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Journal article (peer-reviewed)abstract
- Polar ecosystems are experiencing amongst the most rapid rates of regional warming on Earth. Here, we discuss ‘omics’ approaches to investigate polar biodiversity, including the current state of the art, future perspectives and recommendations. We propose a community road map to generate and more fully exploit multi-omics data from polar organisms. These data are needed for the comprehensive evaluation of polar biodiversity and to reveal how life evolved and adapted to permanently cold environments with extreme seasonality. We argue that concerted action is required to mitigate the impact of warming on polar ecosystems via conservation efforts, to sustainably manage these unique habitats and their ecosystem services, and for the sustainable bioprospecting of novel genes and compounds for societal gain.
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