State-wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non-invasive prenatal testing for sex chromosome conditions

Background

To analyze population-based trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) since the availability of non-invasive prenatal testing (NIPT).

Methods

Retrospective state-wide data for all prenatal diagnoses performed <25 weeks gestation from 2005 to 2020 in Victoria, Australia. Non-invasive prenatal testing became locally available from 2012. The prenatal diagnosis rates of SCA as proportions of all prenatal diagnostic tests and all births were calculated. Statistical significance was assessed with the χ² test for trend, with p < 0.05 considered significant.

Results

46,518 amniocentesis and chorionic villus sampling were performed during the study period, detecting 617 SCAs. There was a significant increase in the rate of prenatal SCAs from 5.8 per 10,000 births in 2005 to 8.7 per 10,000 births in 2020 (p < 0.0001). This increase was predominantly due to 47,XXY cases, 91% of which were ascertained via positive NIPT for this condition in 2020. The prenatal diagnosis rate of 47,XXY significantly increased from 0.8 per 10,000 births in 2005 to 4.3 per 10,000 births in 2020 (p < 0.0001).

Conclusion

Screening for SCAs using NIPT has directly led to an increase in their prenatal diagnosis on a population-wide basis, especially 47,XXY. This has implications for clinician education, genetic counselling, and pediatric services.     

Risk homeostasis theory, utility and accident loss in a simulated driving task

The suggestion that utility is logically necessary for behavioural adjustments to be made in response to changes in intrinsic risk is fundamental to risk homeostasis theory (RHT). However, the methodology used to investigate RHT — analysis of road traffic accidents — is ill-suited to the investigation of this assertion. The role of utility and intrinsic risk as possible determinants of behavioural compensation were therefore examined experimentally across 14 specific behaviours using the Aston Driving Simulator. RHT predicts that these two factors act in a multiplicative way to form a statistical interaction. It also predicts that the behavioural pathways through which the effect manifests itself should be reconcilable with the concept of utility. Both predictions received little support in this experiment, suggesting that utility and intrinsic risk operate as independent factors: both factors produced significant main effects across a number of behaviours. This finding, if it can be generalised, implies that, contrary to mathematically-based models of danger compensation and the traditional model of risk homeostasis, utility is not logically necessary for behavioural compensation in response to a change in intrinsic risk.     

Migrant land rights reception and 'clearing to claim' in sub-Saharan Africa: A deforestation example from southern Zambia

The relationship between migration and deforestation in the developing world continues to receive significant attention. However beyond direct population increase, the precise mechanisms that operate within the intersection of migrant/host land rights remain largely unexamined. Where migrants are provided with land and rights by the State and/or local communities, how such rights are perceived by the migrants is of primary importance in their interaction with land resources, and in aggregate it impacts the development opportunities and environmental repercussions of migration. The authors analyze the operative aspects of land rights reception (as opposed to provision) by migrant populations, and the relationship between this reception and deforestation. The article examines a case in Zambia to analyze how tenurial constructs, emerging from the way rights are perceived by migrants, lead to the continued clearing of areas much larger than needed for cultivation, even when the arrangement appears counter‐productive in terms of land rights provision and labour allocation. While valuable policy efforts have focused on providing resource rights to migrants, how such rights are received and the relationship of this reception to resource management needs greater policy attention.     

Toward Sustainable Management of National Parks in Japan: Securing Local Community and Stakeholder Participation

Japan’s national park system constitutes a potentially viable mechanism for securing local community participation and building stakeholder consensus for sustainable park management, although the potential of this system is yet to be fully maximized. This article gives an overview of the system of protecting natural resources in Japan, focusing on the national park system. Parks are managed by zoning and regulation, which is unique in that land is not “set aside” for nature conservation, but designated as national park wherever the need to preserve “scenic beauty” has been recognized, regardless of land ownership or land use. Although resource conservation under this system has been problematic, it has advantages, especially in terms of community participation. This article demonstrates that in order to reach the system’s potential, the park authority must act as coordinator of stakeholders and facilitator of bottom-up approaches to decision-making. In order to do this, steps that must be taken include the following: identifying the various stakeholders in park management and defining the “local community”; clarifying the roles and responsibilities of each stakeholder; and supporting consensus-building among stakeholders regarding the objectives and long-term vision of each park. By taking these steps, it would be possible to build a park management system that overrides government boundaries and involves local communities. This will enable the park authority to address the challenges facing Japan’s complex system of conserving natural resources, and move towards sustainable management of natural resources in Japan.     

Assessing the Ecological Footprint of a Large Metropolitan Water Supplier: Lessons for Water Management and Planning towards Sustainability

Faced with the task of communicating their combined social, environmental and economic impact, water service providers are seeking to report overall performance in an aggregated way. Such a methodology must be scientifically robust, easily communicated and allow benchmarking of performance while reflecting a transition towards sustainability. In this paper the ecological footprint (EF) is calculated for Sydney Water Corporation (SWC), using input-output analysis and land disturbance in an innovative approach that overcomes problems identified in the original EF concept. This pilot study has allowed SWC to gain some valuable insights into its impacts: SWC's annual EF is about 73 100 ha in terms of land disturbance. Of this, 54 000 ha are projected to become disturbed as a consequence of climate change, with the remainder of 19 100 ha being disturbed on SWC's premises (2400 ha) and on those of upstream suppliers (16 700 ha). Total on-site impacts equal 9300 ha, while indirect land disturb ance contributes 63 600 ha. The EF appears promising as an educational and communi cation tool and may have potential as a decision support tool. However, further research is needed to incorporate downstream impacts into the EF, which would have significant benefits to SWC in terms of assessing and communicating the organization's overall progress towards sustainability.     

What Makes Them Pay? Values of Volunteer Tourists Working for Sea Turtle Conservation

As charismatic mega-fauna, sea turtles attract many volunteers to conservation programs. This article examines the ways in which volunteers value sea turtles, in the specific context of volunteers working with the Caribbean Conservation Corporation, at Tortuguero, Costa Rica. The complexity of volunteer values is explored using a qualitative approach. In-depth interviews with 31 volunteers were conducted in July of 1999 and 2000. Interviews probed, among other things, interest in sea turtles and their conservation, motives for participating, and the most gratifying parts of their volunteer experience. Results show that volunteers hold multiple and complex values for sea turtles, but particular values dominate. Results have implications for understanding human–environment relations and the emerging study of volunteer tourism. There are also management implications for volunteer programs hoping to attract participants.     

Disaster risk, climate change and international development: scope for, and challenges to, integration

Reducing losses to weather-related disasters, meeting the Millennium Development Goals and wider human development objectives, and implementing a successful response to climate change are aims that can only be accomplished if they are undertaken in an integrated manner. Currently, policy responses to address each of these independently may be redundant or, at worst, conflicting. We believe that this conflict can be attributed primarily to a lack of interaction and institutional overlap among the three communities of practice. Differences in language, method and political relevance may also contribute to the intellectual divide. Thus, this paper seeks to review the theoretical and policy linkages among disaster risk reduction, climate change and development. It finds that not only does action within one realm affect capacity for action in the others, but also that there is much that can be learnt and shared between realms in order to ensure a move towards a path of integrated and more sustainable development.     

Smoke aerosols dispersion and transport from the 2013 New South Wales (Australia) bushfires

Environmental monitoring and modelling, especially in the regional context, has seen significant progress with the widely usage of satellite measurement in conjunction with local meteorological and air quality monitoring to understand the atmospheric dispersion and transport of air pollutants. This paper studies the application of these data and modelling tools to understand the environment effects of a major bushfire period in the state of New South Wales (NSW), Australia, in 2013. The bushfires have caused high pollution episodes at many sites in the greater Sydney metropolitan areas. The potential long-range transport of aerosols produced by bushfires to other region and states has been seen by regulators as a major concern. Using data and images collected from satellites, in addition to the results obtained from different simulations carried out using HYSPLIT trajectory model and a regional meteorological model called Conformal Cubic Atmospheric Model (CCAM), we were able to identify at least 2 days on which the smoke aerosols from bush fires in NSW has been transported at high altitude to the northern state of Queensland and the Coral Sea. As a result, widespread high particle concentration in South East Queensland including the Brisbane area, as measured by nearly all the air quality monitoring stations in this region, occurred on the day when the smoke aerosols intruded to lower altitude as indicated by the CALIOP (Cloud-Aerosol Lidar with Orthogonal Polarization) Lidar measurements on the CALIPSO (Cloud–Aerosol Lidar and Infrared Pathfinder Satellite Observation) satellite. The use of meteorological or air quality modelling to connect the ground-based measurements with satellite observations as shown in this study is useful to understand the pollutant transport due to bushfires and its impact on regional air quality.     

Comparing methods to estimate the proportion of turbine-induced bird and bat mortality in the search area under a road and pad search protocol

Environmental and Ecological Statistics - Estimating bird and bat mortality at wind facilities typically involves searching for carcasses on the ground near turbines. Some fraction of carcasses...