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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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To thoroughly investigate the metal contamination around chromated copper arsenate (CCA)/polyethylene glycol (PEG)-treated utility poles, a total of 189 soil samples obtained from different depths and distances near six treated poles in the Montreal area (Canada) were analyzed for Cu, Cr, and As content. Various soil physicochemical properties were also determined. Ground water samples collected below the poles were analyzed for metals and bioassays with Daphnia magna were conducted. Generally, sandy soils had lower contaminant levels than clayey and organic soils. Copper concentrations in soil were highest followed by As and Cr. The highest Cu (1460 +/- 677 mg kg(-1)), As (410 +/- 150 mg kg(-1)), and Cr (287 +/- 32 mg kg(-1)) concentrations were found at the ground line and immediately adjacent to the pole. Contaminant levels then decreased with distance, approaching background levels within 0.1 m from the pole for Cr and 0.5 m for Cu and As. Chromium and Cu levels generally approached background levels at a depth of 0.5 m. Average As content near the pole on all study sites was three to eight times higher than Quebec's Level C criterion (50 mg kg(-1)), although it dropped to 31 mg kg(-1) at 0.1 m. Results also showed that As persisted up to 1 m in soil depth (17-54 mg kg(-1)). Copper and Cr concentrations in ground water samples were always <1.000 mg L(-1) and <0.05 mg L(-1), respectively and Cr(VI) was <0.02 mg L(-1). One sample contained an As concentration >0.025 mg L(-1) but bioassays showed that, overall, ground water had a low ecotoxic potential.  相似文献   
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The objective of this research was to evaluate the impacts of increasing product removal on biomass and nutrient content of a central hardwood forest ecosystem. Commercial thinning, currently the most common harvesting practice in southern New England, was compared with whole-tree clearcutting or maximum aboveground utilization. Using a paired-watershed approach, we studied three adjacent, first-order streams in Connecticut. During the winter of 1981–82, one was whole-tree clearcut, one was commercially thinned, and one was designated as the untreated reference. Before treatment, living and dead biomass and soil on the whole-tree clearcut site contained 578 Mg ha–1 organic matter, 5 Mg ha–1 nitrogen, 1 Mg ha–1 phosphorus, 5 Mg ha–1 potassium, 4 Mg ha–1 calcium, and 13 Mg ha–1 magnesium. An estimated 158 Mg ha–1 (27% of total organic matter) were removed during the whole-tree harvest. Calcium appeared to be the nutrient most susceptible to depletion with 13% of total site Ca removed in whole-tree clearcut products. In contrast, only 4% (16 Mg ha–1) of the total organic matter and 2% of the total nutrients were removed from the thinned site. Partial cuts appear to be a reliable management option, in general, for minimizing nutrient depletion and maximizing long-term productivity of central hardwood sites. Additional data are needed to evaluate the long-term impacts of more intensive harvests.  相似文献   
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This study was undertaken to validate potential biomarkers of exposure and effects due to chemical contaminants in breedingcolonies of the Great Blue Heron and the Black-crowned Night-Heron on the St. Lawrence River. Eggs and fledglings from both species were collected from many colonies along theRiver. The fledglings from colonies in freshwater and brackishwater were more contaminated by mercury and PCBs than those from estuarine and gulf colonies. With respect to fledglings ofthe two heron species, some morphometric and blood biochemicalmeasurements, including plasma thyroid hormones and retinol, were significantly different among colonies. Significant differences were also observed in liver retinoids, EROD and porphyrins among colonies. The results of this study suggestthat plasma retinoids and thyroid hormones are good biomarkersof exposure and effects, and are sufficiently sensitive to reflect local and regional variations in contamination. Along with the measure of contaminants in egg and plasma, they constitute non-invasive biomarkers which represent an importantcriteria for long term monitoring of wildlife species. It is concluded that the Great Blue Heron is an appropriate sentinelspecies in the surveillance network for the St. Lawrence River.  相似文献   
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In the vulnerable Arctic environment, the impact of especially hazardous wastes can have severe consequences and the reduction and safe handling of these waste types are therefore an important issue. In this study, two groups of heavy metal containing particulate waste materials, municipal solid waste incineration (MSWI) fly and bottom ashes and mine tailings (i.e., residues from the mineral resource industry) from Greenland were screened in order to determine their suitability as secondary resources in clay-based brick production. Small clay discs, containing 20 or 40% of the different particulate waste materials, were fired and material properties and heavy metal leaching tests were conducted before and after firing. Remediation techniques (washing in distilled water and electrodialytical treatment) applied to the fly ash reduced leaching before firing. The mine tailings and bottom ash brick discs obtained satisfactory densities (1669–2007 kg/m3) and open porosities (27.9–39.9%). In contrast, the fly ash brick discs had low densities (1313–1578 kg/m3) and high open porosities (42.1–51. %). However, leaching tests on crushed brick discs revealed that heavy metals generally became more available after firing for all the investigated materials and that further optimisation is therefore necessary prior to incorporation in bricks.  相似文献   
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The term ‘sustainability science’ has been employed to refer to a scientific trend, movement or program aimed at studying problems related to human–nature interactions. However, since it does not have its own set of principles for knowledge building and lack of a definition of a study object, sustainability science is not a science, at least in the usual sense of the word. A study object is the conceptual delimitation of the problems tackled by a science, and therefore, its search in the context of a science of sustainability requires exploring different notions of sustainability. This article presents different perspectives on the concept of sustainability and analyzes the viability to assume them as study object of sustainability science. Such exploration demands concepts based on a processual ontology that directs the researcher toward the dynamic, historic and temporal and social-ecological character of problems of unsustainability. The concept of social-ecological resilience seems to comply with such requirements.  相似文献   
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