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With a high sensitivity and specificity, non-invasive prenatal testing (NIPT) is an incomparable screening test for fetal aneuploidy. However, the method is rather newly introduced, and experiences with discordant results are few. We did a systematic review of literature reporting details of false positive and false negative NIPT results. Discordant sex chromosome results were not included. We identified 22 studies reporting case details. In total, 206 discordant cases were included, of which 88% were false positive and 12% false negative. Details on maternal age, gestational age, platform/company, Z-score, fetal fraction, results and explanation were specified. The main reasons for discordant results were confined placental mosaicism, maternal copy number variation, vanished twin, maternal cancer and true fetal mosaicism. A very high percentage of cases (67%) were reported with no obvious biological or technical explanation for the discordant result. The included cases represent only a minor part of the true number of false positive or false negative NIPT cases identified in fetal medicine clinics around the world. To ensure knowledge exchange and transparency of NIPT between laboratories, we suggest a systematic recording of discordant NIPT results, as well as a quality assurance by external quality control and accreditation. © 2017 John Wiley & Sons, Ltd.  相似文献   

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The rapid developments in all kinds of new information technologies, information networks and social media are increasingly affecting societies around the world. The so termed Information Age not only influences social relationships, economy and science, but also governance. Against this background and in the specific field of sustainability, informational governance is an emerging concept. It addresses two interrelated processes: (1) new forms of governing through information, and (2) transformative changes in governance institutions due to the new information flows. The aim of this article is to gain more insights into ways in which the Information Age impacts sustainability, and to suggest a research agenda with relevance to the field of informational governance. A systematic literature review resulted in a selection of 39 articles, of which 23 and 16 articles were identified in two-parallel searches. The increased human interconnectedness through e-governance, self-organization, private governing and empowerments are identified as core informational governance trends dealing with sustainability in the Information Age, and essential to future research.  相似文献   

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Biosensors for sensitive and specific detection of foodborne and waterborne pathogens are particularly valued for their portability, usability, relatively low cost, and real-time or near real-time response. Their application is widespread in several domains, including environmental monitoring. The main limitation of currently developed biosensors is a lack of sensitivity and specificity in complex matrices. Due to increased interest in biosensor development, we conducted a systematic review, com...  相似文献   

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We conducted a comprehensive evidence-based review on the epidemiology and current standard of care of gastroschisis management as well as the pathophysiology, rationale and feasibility of fetal therapy as a viable alternative. Gastroschisis is a periumbilical abdominal wall defect characterized by abdominal viscera herniation in utero. It affects 4 in 10 000 live births, but the prevalence has steadily increased in recent years. Gastroschisis is typically diagnosed on routine second-trimester ultrasound. The overall prognosis is favorable, but complex gastroschisis, which accounts for about 10% to 15% of cases, is associated with a higher mortality, significant disease burden and higher healthcare costs due to long- and short-term complications. The current standard of care has yet to be established but generally involves continued fetal surveillance and multidisciplinary perinatal care. Postnatal surgical repair is achieved with primary closure, staged silo closure or sutureless repair. Experimental animal studies have demonstrated the feasibility of in utero closure, antiinflammatory therapy and prenatal regenerative therapy. However, reports of early preterm delivery and amnioinfusion trials have failed to show any benefit in humans. Further experimental studies and human trials are necessary to demonstrate the potential benefit of fetal therapy in gastroschisis.  相似文献   

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Climate change has become one of the most compelling fields of empirical research over the last couple of decades, partly due to its socio-economic impacts. Using a meta-analysis of 235 peer-reviewed articles published between January 2010 and July 2020, this paper appraises climate change adaptation (CCA) research in Nepal and draws lessons for future adaptation planning. The number of research is observed to have increased significantly in recent years (2015–2020) although there is no consistent pattern over the review period and at the thematic level. Findings submit that the agriculture and food security has the highest number of publications (37%) followed by gender equality and social inclusion (18%) and forest, biodiversity and watershed management (16%). There are no studies found in rural and urban settlement theme. Geographic distribution of CCA studies revealed that over 40% studies were carried out from central Nepal, while no study was conducted in ten districts of eastern and western Nepal. The study focus was also discrete, and the perception and attitude and impact assessment of climate change were common agendas; however, the drivers of change and options for adaptation were understudied. CCA with multipronged initiatives provide a broader understanding of dynamics and governance of climate change that not only affects rural livelihoods, but also influences regional and global environments and biodiversity.

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This paper compares the life cycle global warming potential of three of Australia’s important agricultural production activities – the production of wheat, meat and wool in grazed subterranean clover (sub-clover) dominant pasture and mixed pasture (perennial ryegrass/phalaris/sub-clover/grass and cape weed) systems. Two major stages are presented in this life cycle assessment (LCA) analysis: pre-farm, and on-farm. The pre-farm stage includes greenhouse gas (GHG) emissions from agricultural machinery, fertilizer, and pesticide production and the emissions from the transportation of these inputs to paddock. The on-farm stage includes GHG emissions due to diesel use in on-farm transport and processing (e.g. seeding, spraying, harvesting, topdressing, sheep shearing), and non-CO2 (nitrous oxide (N2O), and methane (CH4)) emissions from pastures and crop grazing of lambs.The functional unit of this life cycle analysis is the GHG emissions (carbon dioxide equivalents – CO2 -e) from 1 kg of wheat, sheep meat and wool produced from sub-clover, wheat and mixed pasture plots. The GHG emissions (e.g. CO2, N2O and CH4 emission) from the production, transportation and use of inputs (e.g. fertilizer, pesticide, farm machinery operation) during pre-farm and on-farm stages are also included. The life cycle GHG emissions of 1 kg of wool is significantly higher than that of wheat and sheep meat. The LCA analysis identified that the on-farm stage contributed the most significant portion of total GHG emissions from the production of wheat, sheep meat and wool. This LCA analysis also identified that CH4 emissions from enteric methane production and from the decomposition of manure accounted for a significant portion of the total emissions from sub-clover and mixed pasture production, whilst N2O emissions from the soil have been found to be the major source of GHG emissions from wheat production.  相似文献   

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