How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark

Objectives

We aimed to compare cell-based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell-free NIPT (cfNIPT).

Material and Methods

Study 1: Women (N = 92) who accepted CVS were recruited for cbNIPT (53 normal and 39 abnormal). Samples were analyzed with chromosomal microarray (CMA). Study 2: Women (N = 282) who accepted cfNIPT were recruited for cbNIPT. cfNIPT was analyzed using sequencing and cbNIPT by CMA.

Results

Study 1: cbNIPT detected all aberrations (32/32) found in CVS: trisomies 13, 18 and 21 (23/23), pathogenic copy number variations (CNVs) (6/6) and sex chromosome aberrations (3/3). cbNIPT detected 3/8 cases of mosaicism in the placenta. Study 2: cbNIPT detected all trisomies found with cfNIPT (6/6) and had no false positive (0/246). One of the three CNVs called by cbNIPT was confirmed by CVS but was undetected by cfNIPT, two were false positives. cbNIPT detected mosaicism in five samples, of which two were not detected by cfNIPT. cbNIPT failed in 7.8% compared to 2.8% in cfNIPT.

Conclusion

Circulating trophoblasts in the maternal circulation provide the potential of screening for aneuploidies and pathogenic CNVs covering the entire fetal genome.     

Use of a Hydrogen Peroxide Nebulizer for Viral Disinfection of Emergency Ambulance and Hospital Waiting Room

Food and Environmental Virology - Disinfection of hospital facilities and ambulances is an important issue for breaking the chain of transmission of viral pathogens. Hydrogen peroxide has provided...     

Cautious but Committed: Moving Toward Adaptive Planning and Operation Strategies for Renewable Energy’s Wildlife Implications

Wildlife planning for renewable energy must cope with the uncertainties of potential wildlife impacts. Unfortunately, the environmental policies which instigate renewable energy and those which protect wildlife are not coherently aligned—creating a green versus green dilemma. Thus, climate mitigation efforts trigger renewable energy development, but then face substantial barriers from biodiversity protection instruments and practices. This article briefly reviews wind energy and wildlife interactions, highlighting the lively debated effects on bats. Today, planning and siting of renewable energy are guided by the precautionary principle in an attempt to carefully address wildlife challenges. However, this planning attitude creates limitations as it struggles to negotiate the aforementioned green versus green dilemma. More adaptive planning and management strategies and practices hold the potential to reconcile these discrepancies to some degree. This adaptive approach is discussed using facets of case studies from policy, planning, siting, and operational stages of wind energy in Germany and the United States, with one case showing adaptive planning in action for solar energy as well. This article attempts to highlight the benefits of more adaptive approaches as well as the possible shortcomings, such as reduced planning security for renewable energy developers. In conclusion, these studies show that adaptive planning and operation strategies can be designed to supplement and enhance the precautionary principle in wildlife planning for green energy.     

Understanding and Integrating Local Perceptions of Trees and Forests into Incentives for Sustainable Landscape Management

We examine five forested landscapes in Africa (Cameroon, Madagascar, and Tanzania) and Asia (Indonesia and Laos) at different stages of landscape change. In all five areas, forest cover (outside of protected areas) continues to decrease despite local people's recognition of the importance of forest products and services. After forest conversion, agroforestry systems and fallows provide multiple functions and valued products, and retain significant biodiversity. But there are indications that such land use is transitory, with gradual simplification and loss of complex agroforests and fallows as land use becomes increasingly individualistic and profit driven. In Indonesia and Tanzania, farmers favor monocultures (rubber and oil palm, and sugarcane, respectively) for their high financial returns, with these systems replacing existing complex agroforests. In the study sites in Madagascar and Laos, investments in agroforests and new crops remain rare, despite government attempts to eradicate swidden systems and their multifunctional fallows. We discuss approaches to assessing local values related to landscape cover and associated goods and services. We highlight discrepancies between individual and collective responses in characterizing land use tendencies, and discuss the effects of accessibility on land management. We conclude that a combination of social, economic, and spatially explicit assessment methods is necessary to inform land use planning. Furthermore, any efforts to modify current trends will require clear incentives, such as through carbon finance. We speculate on the nature of such incentive schemes and the possibility of rewarding the provision of ecosystem services at a landscape scale and in a socially equitable manner.     

Low to moderate levels of genetic differentiation detected across the distribution of the New Zealand abalone, Haliotis iris

Two regions of the mitochondrial genome (cytochrome oxidase I and ATPase 8–ATPase 6) were used to examine the population genetic structure of New Zealand’s endemic abalone (Haliotis iris). Samples were collected from 28 locations around New Zealand between January 2005 and February 2008. At least four phylogeographic breaks were present and occurred across the Chatham rise, in the western Cook Strait region, along the southeast coast of the South Island, and at East Cape in the North Island. Gene flow across the Chatham rise is probably limited due to infrequent dispersal across large geographic distances (~850 km), while factors limiting gene flow around the North and South Islands are less clear, and understanding these may require intense temporal and spatial sampling in complex hydrographic regions. High genetic diversity and weak genetic structure may be a general feature of abalone potentially reflecting large and/or ancient populations.     

An assessment of persistent organic pollutants in Scottish coastal and offshore marine environments

Concentrations of persistent organic pollutants (POPs), including polycyclic aromatic hydrocarbons (PAHs), polychlorinated biphenyls (PCBs) and polybrominated diphenyl ethers (PBDEs) were determined in sediment and biota (fish liver) from around Scotland. The concentrations were investigated using assessment criteria developed by OSPAR and ICES. Organic contaminant concentrations, PAHs, PCBs and PBDEs in sediment, and PCBs and PBDEs in fish liver, were significantly higher in the Clyde compared to all other sea areas. This is mainly due to historic industrial inputs. Highest PCB and PAH concentrations were found in the strata furthest up the Clyde estuary, with concentrations of POPs in these strata being at levels such that there is an unacceptable risk of chronic effects occurring in marine species. Furthermore, for PAHs in Clyde sediment there was a significant negative gradient going from north to south towards the open sea. PAH and PCB concentrations in sediment and biota in all other Scottish sea areas (except for PCBs in sediment from East Scotland) were unlikely to give rise to pollution effects, being below relevant assessment criteria. Although no assessment criteria are available for PBDEs, the concentrations observed in Scottish sediments were low with all congeners below the limit of detection (LoD; 0.03 μg kg(-1) dry weight) in 140 out of a total of 307 samples analysed. Where PBDEs were detected, the dominant congeners were BDE47 and BDE99. PBDEs were detected in fish livers, although concentrations were less than 150 μg kg(-1) lipid weight in all sea areas except the Clyde where concentrations ranged between 8.9 and 2202 μg kg(-1) lipid weight. Few trends were detected in contaminant concentrations in biota or sediment at any Scottish site with more than five years data. Downward trends were detected in PAHs in sediment from the Clyde, Irish Sea and Minches and Malin Sea and PCBs in fish liver from the Moray Firth. Rules were developed for the aggregation of the contaminant data across a sea area. An overall assessment for each sea area was then assigned, looking at the frequency of sites or strata within each sea area that were above or below the relevant assessment criteria. Overall the status of the various sea areas, with respect to the assessed POPs, can be considered to be acceptable in that they were below concentrations likely to result in chronic effects for all sea areas except the Clyde.     

Community knowledge networks: an action-orientated approach to energy research

The Climate Change Act 2008 commits the UK to reducing carbon emissions by 80% of 1990 levels by 2050. With household emissions constituting more than a quarter of current total energy use in the UK, energy practices in the home have taken on increased policy attention. In this paper, we argue that the UK government's approach is founded upon a variant of methodological individualism that assumes that providing greater energy information to individuals will effect behaviour change in relation to energy use. Such an approach is potentially limited in its effectiveness and does not afford appropriate recognition to all those affected by energy policy. In contrast to this approach, we set out an alternative perspective, a community knowledge networks approach to energy and justice which recognises the contexts and relationships in which people live and use energy. Such an approach emphasises situated knowledge and practices in order to gain a greater understanding of how individuals and communities use energy, but, importantly, offers a means for affording greater recognitional justice to different social groups.     

Secondary sexual characters and female quality in primates

Honest advertisement models of sexual selection propose that exaggerated secondary sexual ornaments are condition-dependent, and that only individuals with superior disease resistance will be able to express costly ornamentation. Studies of secondary sexual ornamentation and their maintenance by sexual selection tend to focus on males. However, females may also possess showy ornaments. We investigated whether female ornaments, in the form of sexual swellings, reliably signal female fitness in a semifree-ranging colony of mandrills (Mandrillus sphinx) at the Centre International de Recherches Médicales, Franceville (CIRMF), Gabon. We measured swelling height and width using photographs of periovulatory females over three mating seasons and compared swelling size with parasitism (using fecal analysis over one annual cycle), immune status (ratio of lymphocytes to neutrophils in blood smears made during captures), and genetic diversity (microsatellite heterozygosity). Swelling size varied by up to 10% between cycles in individual females, giving some support to the hypothesis that size differences may indicate the quality of individual swelling cycles. However, there was no significant difference in swelling size between conceptive and nonconceptive cycles. Measures of swelling size varied more between females than within females across swelling cycles, implying that swelling size was a relatively consistent characteristic of individual females. Swelling size was not significantly related to either general measures of parasitism and immune status, or to the closest available measures to each swelling cycle. Nor was swelling size significantly related to genetic diversity. The healthy, provisioned nature of the colony and problems associated with observational, correlational studies restrict interpretation of our data. However, in combination with previous findings that females of higher reproductive success do not show larger swellings, and that males do not allocate mating effort as a function of swelling size, these results imply that sexual swelling size does not indicate female quality in these semifree-ranging mandrills.