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.     

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.     

Evaluation of alternative filter media for particulate matter emission testing of residential wood heating devices

The performance of Teflon-coated glass fiber filter media (Pallflex Emfab TX40) is evaluated for particulate matter (PM) sampling of residential wood heating devices in a dilution tunnel. Thirty samples of varying duration and PM loading and concentration were collected from an U.S. Environmental Protection Agency (EPA) Method 28 dilution tunnel using dual Method 5G sample trains with untreated glass fiber and Emfab filters. Filters were weighed soon after the end of sampling and again the next day after equilibration at 35% relative humidity (RH). PM concentrations from both types of filters agreed very well with 1-day equilibration, demonstrating that Emfab filters are appropriate for use in measuring PM from residential wood burning appliances in a dilution tunnel and have performance equal to or better than the glass fiber filter media. Agreement between filter media without equilibration was erratic, with PM from glass fiber filter samples varying from slightly less than the Emfab samples to as much as 2.8 times higher. Some of the glass fiber filters lost substantial mass with equilibration, with the highest percent loss at lower filter mass loadings. Mass loss for Emfab samples was a small percentage of the mass and very consistent across the range of mass loadings. Taken together, these results may indicate water uptake on the glass fiber media that is readily removed with 1-day equilibration at moderate RH conditions.

Implications: EPA regulations now allow the use of either glass fiber or Teflon filter media for wood appliance PM emission testing. Teflon filter media minimizes the potential for acid-gas PM artifacts on glass fiber filters; this is important as EPA moves toward the use of locally sourced cordwood for testing that may have higher sulfur content. This work demonstrates that the use of Teflon-coated glass fiber filters can give similar PM measurement results to glass fiber filters after 1 day of equilibration. With no equilibration, measured PM from glass fiber filters was usually higher than from Teflon-coated glass fiber filters.     

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.     

Contribution of In‐Channel Processes to Sediment Yield of an Urbanizing Watershed1

Abstract: A study was conducted between September 2003 and September 2006 to obtain baseline sediment inventories and monitor sediment transport and storage along a 3.7 km length of the channel of Valley Creek within Valley Forge National Historical Park, Pennsylvania. Valley Creek is a tributary of the Schuylkill River and drains an urbanizing 60.6 km² watershed that currently has 18% impervious land cover. Numerous field methods were employed to measure the suspended sediment yield, longitudinal profile, cross‐sections, banklines, and particle size distribution of the streambed. Suspended sediment yield for the watershed was measured at a USGS gage located just upstream of the park boundary between July 2004 and July 2005, the period corresponding to field surveys of bank erosion and channel change. The estimated suspended sediment yield of 95.7 t/km²/year is representative of a year with unusually high discharge, including a storm event that produced a peak of 78 m³/s, the second highest discharge on record for the USGS gage. Based on the median annual streamflow for the 24 years of record at the USGS gage from 1983 to 2006, the median annual sediment yield is estimated to be closer to 34 t/km²/year, considerably lower than median and mean values for other sites within the region. The mass of silt, clay, and fine sand derived from bank erosion along the 3.7 km study reach during the field survey period accounts for an estimated 2,340 t, equivalent to about 43% of the suspended sediment load. The mass of fine sediment stored in the bed along the study reach was estimated at 1,500 t, with about 330 t of net erosion during the study period. Although bank erosion appears to be a potentially dominant source of sediment by comparison with annual suspended sediment load, bed sediment storage and potential for remobilization is of the same order of magnitude as the mass of sediment derived from bank erosion.