Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Objective

The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.

Methods

In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the sonographic detection of fetal congenital anomalies. The most common identified congenital anomalies were skeletal dysplasia (n = 20), multiple major fetal congenital anomalies (n = 17) and intracerebral structural anomalies (n = 7).

Results

A conclusive diagnosis was identified in 18 of the 54 cases (33%). Pathogenic variants were detected most often in fetuses with skeletal dysplasia (n = 11) followed by fetuses with multiple major fetal congenital anomalies (n = 4) and intracerebral structural anomalies (n = 3). A survey, completed by the physicians for 37 of 54 cases, indicated that the rWES results impacted clinical decision making in 68% of cases.

Conclusions

These results suggest that rWES improves prenatal diagnosis of fetuses with congenital anomalies, and has an important impact on prenatal and peripartum parental and clinical decision making.     

FloodProBE: technologies for improved safety of the built environment in relation to flood events

The FloodProBE project started as a FP7 research project in November 2009.Floods, together with wind related storms, are considered the major natural hazard in the EU in terms of risk to people and assets. In order to adapt urban areas (in river and coastal zones) to prevent flooding or to be better prepared for floods, decision makers need to determine how to upgrade flood defences and increasing flood resilience of protected buildings and critical infrastructure (power supplies, communications, water, transport, etc.) and assess the expected risk reduction from these measures.The aim of the FloodProBE-project is to improve knowledge on flood resilience and flood protection performance for balancing investments in flood risk management in urban areas. To this end, technologies, methods and tools for assessment purposes and for the adaptation of new and existing buildings and critical infrastructure are developed, tested and disseminated.Three priority areas are addressed by FloodProBE. These are: (i) vulnerability of critical infrastructure and high-density value assets including direct and indirect damage, (ii) the assessment and reliability of urban flood defences including the use of geophysical methods and remote sensing techniques and (iii) concepts and technologies for upgrading weak links in flood defences as well as construction technologies for flood proofing buildings and infrastructure networks to increase the flood resilience of the urban system.The primary impact of FloodProBE in advancing knowledge in these areas is an increase in the cost-effectiveness (i.e. performance) of new and existing flood protection structures and flood resilience measures.     

Preface Streamlining JI and CDM accounting procedures through a multi-project approach

Mitigation and Adaptation Strategies for Global Change -     

Transboundary marine spatial planning: a reflexive marine governance experiment?

Because seas and coastlines are shared between states, the formulation and implementation of marine spatial planning (MSP) should be transboundary by nature. The main argument of this paper is that MSP should be organized as a transboundary policy-making process, but this is hampered by the conceptual and institutional fragmentation MSP is facing. Based on an analysis of four transboundary planning processes in different European seas, the paper gives insight into the possibilities to develop and implement transboundary marine spatial planning (TMSP). To overcome the conceptual and institutional challenges, TMSP should be developed as a reflexive governance arrangement, in which the actors involved are able to change the rules of the game and to challenge the existing (national-oriented) MSP discourses. The paper develops four forms of reflexivity (unreflectiveness; performative reflectiveness; structural reflectiveness; and reflexivity) to assess TMSP processes and to formulate conditions which are crucial to develop TMSP as a reflexive marine governance arrangement.     

Farm Level Adaptation to Climate Change: The Case of Farmer’s in the Ethiopian Highlands

In Ethiopia, climate change and associated risks are expected to have serious consequences for agriculture and food security. This in turn will seriously impact on the welfare of the people, particularly the rural farmers whose main livelihood depends on rain-fed agriculture. The level of impacts will mainly depend on the awareness and the level of adaptation in response to the changing climate. It is thus important to understand the role of the different factors that influence farmers’ adaptation to ensure the development of appropriate policy measures and the design of successful development projects. This study examines farmers’ perception of change in climatic attributes and the factors that influence farmers’ choice of adaptation measures to climate change and variability. The estimated results from the climate change adaptation models indicate that level of education, age and wealth of the head of the household; access to credit and agricultural services; information on climate, and temperature all influence farmers’ choices of adaptation. Moreover, lack of information on adaptation measures and lack of finance are seen as the main factors inhibiting adaptation to climate change. These conclusions were obtained with a Multinomial logit model, employing the results from a survey of 400 smallholder farmers in three districts in Tigray, northern Ethiopian.     

Publication Bias in Animal Welfare Scientific Literature

Animal welfare scientific literature has accumulated rapidly in recent years, but bias may exist which influences understanding of progress in the field. We conducted a survey of articles related to animal welfare or well being from an electronic database. From 8,541 articles on this topic, we randomly selected 115 articles for detailed review in four funding categories: government; charity and/or scientific association; industry; and educational organization. Ninety articles were evaluated after unsuitable articles were rejected. The welfare states of animals in new treatments, conventional treatments or control groups with no treatment were classified as high, medium or low according to one or more. More articles were published in which the welfare of animals in new treatments was better than that of animals in the conventional or no treatment groups, demonstrating a positive result bias. Failure to publish studies with negative or inconclusive results may lead to other scientists unnecessarily repeating the research. The authors’ assessments of the welfare state of the groups were similarly rated high, medium or low, and it was found that new treatments were rated lower if the research was funded by industry, and higher when funded by charities, with government funding agencies intermediate. These differences were not evident in the Five Freedoms assessment, demonstrating an authors’ assessment bias that appeared to support the funding agencies’ interests. North American funded publications rated the welfare of animals in New treatments higher and those in a Conventional or No Treatment lower, compared with European-funded publications. It is concluded that preliminary evidence was provided of several forms of publication bias in animal welfare science.