Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed-methods systematic review

Background

Tests in pregnancy such as chromosomal microarray analysis and exome sequencing are increasing diagnostic yield for fetal structural anomalies, but have greater potential to result in uncertain findings. This systematic review investigated the experiences of prospective parents about receiving uncertain results from these tests.

Methods

A systematic search of three electronic databases was conducted. Data extraction was performed for studies that met the eligibility and quality criteria. Results were synthesised following the principles of thematic analysis.

Results

Fourteen studies (10 qualitative, 4 quantitative) were included. Findings were grouped into three overarching themes. Sources of uncertainty included the testing procedure, the diagnosis and prognosis, and health professionals' own uncertainty. The clinical impact of the uncertainty included parents struggling to make clinical decisions with the information available, the emotional impact included decisional-regret, shock, worry and feeling overwhelmed. To manage the uncertainty, parents sought support from healthcare professionals, friends, family, the internet and other parents as well as remaining hopeful.

Conclusions

Prospective parents experience a myriad of uncertainties in the prenatal setting, which must be handled sensitively. Future research should explore optimal ways of managing uncertainty to minimise harm. Recommendations are made for discussing uncertainty during pre- and post-test counseling.     

Managing climate change risks in New York City’s water system: assessment and adaptation planning

Managing risk by adapting long-lived infrastructure to the effects of climate change must become a regular part of planning for water supply, sewer, wastewater treatment, and other urban infrastructure during this century. The New York City Department of Environmental Protection (NYCDEP), the agency responsible for managing New York City’s (NYC) water supply, sewer, and wastewater treatment systems, has developed a climate risk management framework through its Climate Change Task Force, a government-university collaborative effort. Its purpose is to ensure that NYCDEP’s strategic and capital planning take into account the potential risks of climate change—sea-level rise, higher temperature, increases in extreme events, changes in drought and flood frequency and intensity, and changing precipitation patterns—on NYC’s water systems. This approach will enable NYCDEP and other agencies to incorporate adaptations to the risks of climate change into their management, investment, and policy decisions over the long term as a regular part of their planning activities. The framework includes a 9-step Adaptation Assessment procedure. Potential climate change adaptations are divided into management, infrastructure, and policy categories, and are assessed by their relevance in terms of climate change time-frame (immediate, medium, and long term), the capital cycle, costs, and other risks. The approach focuses on the water supply, sewer, and wastewater treatment systems of NYC, but has wide application for other urban areas, especially those in coastal locations.     

Chorionic villus sampling utilization following reports of a possible association with fetal limb defects

Prenatal diagnosis choices were reviewed in 473 women who presented for genetic counselling prior to 11 weeks' gestation for the indication of advanced maternal age. Group A consisted of 336 patients who were unaware of a possible association between chorionic villus sampling (CVS) and limb defects. Group B consisted of 137 patients who were provided this information. Fifty-one per cent of patients in group A and 45 per cent of patients in group B chose CVS. This difference was not significant by χ² analysis (P = 0·7). Patterns of prenatal diagnosis procedure utilization from 1987 to 1992 revealed a significant reduction in CVS utilization accompanied by a corresponding increase in amniocentesis after the association between CVS and limb defects was publicized. Referrals for CVS counselling also significantly declined. However, acceptance rates did not change for those patients who received genetic counselling. First-trimester genetic counselling, including a discussion regarding a possible association between CVS and limb defects, helps patients make informed decisions concerning prenatal diagnosis options, and, in our population, resulted in no change in CVS acceptance rates.     

Environmental requirements for furniture industry: the case study of Brazilian Southeast industry

Despite more than 20 years of economic progress, especially in emerging economies like Brazil, the gap between developed and developing countries is still large, and environment problems have risen significantly. In this context, this paper aims to make the Brazilian furniture production cleaner, analyzing the environmental requirements considered by the micro and small enterprises (SMEs) in made-to-order furniture industry during the product development process (PDP). Another attempt was to identify the internal and external factors that led to the incorporation of these requirements. In this regard, a comprehensive review of eco-design concept that consists of composing environmental requirements into the PDP, through methods, tools, guidelines and techniques, was carried out. The data were collected using semi-structured interviews and in loco observations, analyzing each activity of the PDP and the environmental requirements on 18 SMEs in Brazil. The outcomes show that the economic factors determine the way in which the enterprises respond to the environmental issues and how adequate their companies according to laws and regulations. Moreover, the small number of qualified professionals in this field lead to difficulties to structure the sector, in other words, to produce with less environment impact.     

Photochemically-assisted electrochemical degradation of landfill leachate

In this work, the treatment of landfill leachates by a photoelectrochemical procedure is reported. When applied to untreated leachates the photochemical system was significantly hindered on account of the characteristic dark coloration of the samples. At this condition the degradation process was essentially electrochemical permitting typical color and COD removal of about 50% and 20%, respectively. When a previous chemical precipitation process was applied aiming the elimination of colored species (mainly humic substances) the decolorization and COD removal was extended to 90% and 60%, respectively. Considering the extremely complex character of the leachates and its usual resistance to conventional degradation processes the result reported here attest the high potentiality of photoelectrochemical processes to remediation of recalcitrant residues.     

Orchid-fungus fidelity: a marriage meant to last?

The characteristics of plant-mycorrhizae associations are known to vary in both time and space, but the ecological consequences of variation in the dynamics of plant-fungus interactions are poorly understood. For example, do plants associate with single fungi or multiple fungi simultaneously, and do the associations persist through a plant's lifetime or do plants support a succession of different fungi? We investigated these and other questions related to plant-fungus interactions in Goodyera pubescens, an evergreen terrestrial orchid of the eastern United States, that interacts with closely related fungi in the genus Tulasnella. Unlike the mycorrhizal associations of other plants, orchid-mycorrhizal associations only benefit the orchid, based on current evidence. Many terrestrial orchids have been found to associate with specific groups of fungi. This characteristic could potentially limit orchids to relatively narrow ranges of environmental conditions and may be a contributing factor in the decline of many orchids in the face of changing environmental conditions. We found that G. pubescens protocorms (developing embryos prior to leaf production) and adults associated with only one fungal individual at a time. The orchid-fungus association persists for years, but during a drought period that was associated with the death of many plants, surviving plants were able to switch to new fungal individuals. These results suggest that G. pubescens interacts with the same fungal partner during periods of modest environmental variation but is able to switch to a different fungal partner. We hypothesize that the ability to switch fungi allows G. pubescens to survive more extreme environmental perturbations. However, laboratory experiments suggest that switching fungi has potential costs, as it increases the risk of mortality, especially for smaller individuals. Our findings indicate that it is unlikely that switching fungi is a common way to improve tolerance of less severe environmental fluctuations and disturbances. These findings may have important implications for plant responses to severe climatic events or to more gradual environmental changes such as global warming.     

How to encourage conflict in the environmental decision-making process: imparting lessons from civic environmentalism to local policy-makers

The literature on civic environmentalism suggests that the environmental decision-making process must be perceived by citizens to be inclusive, transparent, and legitimate in order to avoid conflict and encourage stakeholder collaboration. We suggest that studies of environmental decision-making must apply this framework to three key variables: agenda setting, conflicts of interest, and politicised institutions, which impact the potential for citizen collaboration at the local level. Using content analysis of newspaper articles, participant observations, and informal field interviews, we evaluate a case study of citizen opposition to a power plant air permit. We demonstrate how citizen perceptions of agenda setting by local officials, conflicts of interest, and the inability of citizens to affect final decisions after winning in multiple legal and administrative venues, creates conflict by not embodying these civic environmentalist principles. We conclude with policy suggestions for creating a less conflict-riddled process.     

Land Management Restrictions and Options for Change in Perpetual Conservation Easements

Conservation organizations rely on conservation easements for diverse purposes, including protection of species and natural communities, working forests, and open space. This research investigated how perpetual conservation easements incorporated property rights, responsibilities, and options for change over time in land management. We compared 34 conservation easements held by one federal, three state, and four nonprofit organizations in Wisconsin. They incorporated six mechanisms for ongoing land management decision-making: management plans (74 %), modifications to permitted landowner uses with discretionary consent (65 %), amendment clauses (53 %), easement holder rights to conduct land management (50 %), reference to laws or policies as compliance terms (47 %), and conditional use permits (12 %). Easements with purposes to protect species and natural communities had more ecological monitoring rights, organizational control over land management, and mechanisms for change than easements with general open space purposes. Forestry purposes were associated with mechanisms for change but not necessarily with ecological monitoring rights or organizational control over land management. The Natural Resources Conservation Service-Wetland Reserve Program had a particularly consistent approach with high control over land use and some discretion to modify uses through permits. Conservation staff perceived a need to respond to changing social and ecological conditions but were divided on whether climate change was likely to negatively impact their conservation easements. Many conservation easements involved significant constraints on easement holders’ options for altering land management to achieve conservation purposes over time. This study suggests the need for greater attention to easement drafting, monitoring, and ongoing decision processes to ensure the public benefits of land conservation in changing landscapes.     

Remediation and future land use: Incorporating reuse considerations into Superfund activities

The U.S. Environmental Protection Agency (US EPA) is placing increased emphasis on the selection and implementation of remedies that accommodate the reasonably anticipated future use of contaminated land. These remedies result in the long‐term protection of human health and the environment. Postconstruction reuse of the land can significantly benefit communities in other ways as well. The launching of the Superfund Redevelopment Initiative in 1999 and the Return to Use Initiative in 2004 reflects an evolution in the US EPA's understanding of what actions can be taken to support the reuse of Superfund sites from discovery through long‐term stewardship. Through these initiatives, the US EPA has increased its understanding of site reuse and continues to explore and implement reuse assessment, reuse planning, and other tools effective in integrating reuse considerations with response activities throughout the remedial process. © 2005 Wiley Periodicals, Inc.