The role of DNA microarrays in the evaluation of fetal death

Fetal death occurs in 15% of clinically recognized pregnancies. Cytogenetic abnormalities are present in 50% of spontaneous abortions (fetal deaths < 20 weeks) whereas the rate is 6% to 13% for stillbirths (fetal deaths ≥ 20 weeks). Microarray has been demonstrated to increase the diagnosis of genetic abnormalities by providing coverage of the entire genome at a higher density, detecting as small as 50 to 100 kb deletions or duplications, known as copy number changes. Microarray is particularly suited for evaluation of fetal death because DNA can still be analyzed in macerated fetuses and nonviable tissue, two situations where culturing and karyotyping is known to have low yield. Microarray has already proven successful in providing additional genetic information beyond karyotype in spontaneous abortion. The few studies on the use of microarray in stillbirth evaluation have been promising, demonstrating an increase in the diagnosis of clinically relevant genetic abnormalities when compared with karyotype. As the cost and technology improve, microarray may ultimately become the first line screen for genetic abnormalities in stillbirth. The accurate diagnosis of a genetic abnormality as the cause for fetal death may provide closure for families, prevent unnecessary treatments, and enable clinicians to more accurately counsel and manage subsequent pregnancies. © 2012 John Wiley & Sons, Ltd.     

Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

Molecular karyotyping using chromosome microarray analysis (CMA) detects more pathogenic chromosomal anomalies than classical karyotyping, making CMA likely to become a first tier test for prenatal diagnosis. Detecting copy number variants of uncertain clinical significance raises ethical considerations. We consider the risk of harm to a woman or her fetus following the detection of a copy number variant of uncertain significance, whether it is ethically justifiable to withhold any test result information from a woman, what constitutes an ‘informed choice’ when women are offered CMA in pregnancy and whether clinicians are morally responsible for ‘unnecessary’ termination of pregnancy. Although we are cognisant of the distress associated with uncertain prenatal results, we argue in favour of the autonomy of women and their right to information from genome-wide CMA in order to make informed choices about their pregnancies. We propose that information material to a woman's decision-making process, including uncertain information, should not be withheld, and that it would be paternalistic for clinicians to try to take responsibility for women's decisions to terminate pregnancies. Non-directive pre-test and post-test genetic counselling is central to the delivery of these ethical objectives. © 2012 John Wiley & Sons, Ltd.     

An assessment of the attitudes of the inhabitants of Northern Karpathos, Greece: towards a framework for ecotourism development in environmentally sensitive areas

This paper is a case study that sets out to explore the extent to which the local residents of the region of Northern Karpathos and Saria in the southeast corner of the Aegean have positive attitudes and perceptions towards ecotourism ventures for sustainable development. The area is included in the European Ecological Network Natura 2000 and was chosen for studying since it constitutes an ideal location for the promotion of soft and alternative forms of tourism. The investigation of the attitudes of the inhabitants of the Community of Olympos, in Northern Karpathos was carried out using as research tool a questionnaire that was drawn up specifically for the needs of the present work. The attempt to provide a systematic way of studying the inhabitants’ attitudes led to the proposition of a framework that contains the necessary conditions for sustainable ecotourism development. This is based on three fundamental factors, namely: (a) environmental conservation, (b) environmental education and (c) empowerment of local community. The main conclusion drawn was that the perceptions of the local people accord with the basic principles of ecotourism. Residents (a) showed a high degree of awareness and sensitivity regarding environmental conservation issues in the area, (b) recognised the need for environmental education concerning ecotourism activities and (c) had a favourable attitude towards the implementation of initiatives in the ecotourism field aimed at their empowerment and at promoting sustainable development in the area. The participants’ place of permanent residence and level of education appeared to influence significantly their perceptions of this alternative form of tourism.     

Increased nuchal translucency after low-risk noninvasive prenatal testing: What should we tell prospective parents?

Three decades ago, the observation that first trimester fetuses with excess fluid accumulation at the back of the neck were more likely to be aneuploid, gave rise to a new era of prenatal screening. The nuchal translucency (NT) measurement in combination with serum biomarkers and maternal age, resulted in the first trimester combined screening (FTCS) program. The introduction of noninvasive prenatal testing (NIPT) over the past decade has introduced the option for parents to receive highly sensitive and specific screening information for common trisomy from as early as 10 weeks gestation, altering the traditional pathway FTCS pathway. The retention of the 11–13-week NT ultrasound remains important in the detection of structural anomalies; however, the optimal management of pregnancies with a low-risk NIPT result and an isolated increased NT measurement in an era of advanced genomic testing options is a new dilemma for clinicians. For parents, the prolonged period between the initial diagnosis in first trimester, and prognostic information at each successive stage of investigations up to 22–24 weeks, can be emotionally challenging. This article addresses the common questions from parents and clinicians as they navigate the uncertainty of having a fetus diagnosed with an increased NT after a low-risk NIPT result and presents suggested approaches to management.     

IMMEDIATE CONTEXTUAL INFLUENCES ON MATERNAL BEHAVIOR: ENVIRONMENTAL AFFORDANCES AND DEMANDS

Although it is commonly recognized that parenting is multiply determined, mechanisms by which the context influences parental behavior have rarely been examined. In this paper, the role of environmental affordances and demands are described and tested in two observational studies. In Study 1, mothers and their 3-year-old children were observed in three settings where affordances and demands differed: the home, park, and laboratory. In Study 2, mothers and their children engaged in three laboratory conditions in which the amount of demands on the mother was manipulated. Several child-rearing variables showed systematic relations with the presence of affordances and demands. It is concluded that affordances and demands play an important role in influencing maternal behavior by acting as environmental cues for place-related behavior. Further, it is proposed that parental perceptions of the immediate context and the recognition of appropriate environmental cues are paramount in understanding the variability of parental behavior across situational contexts.     

Energy from waste and the food processing industry

The provision of a secure, continuous energy supply is becoming an issue for all sectors of society and the food processing industry as a major energy user must address these issues. This paper identifies anaerobic digestion as an opportunity to go some way to achieving energy security in a sustainable manner. However, a number of energy management and waste reduction concepts must also be brought into play if the environmental, social and economic aspects of sustainability are to be balanced. The reporting of such activity will help to promote the green credentials of the industry. Cleaner production, supply chain and life cycle assessment approaches all have a part to play as tools supporting a new vision for integrated energy and waste management. Our reliance on high-energy processing, such as canning and freezing/chill storage, might also need re-assessment together with processing based on hurdle technology. Finally, the concepts of energy and power management for a distributed energy generation system must be brought into the food processing industry.     

Vascular plant extinction in the continental United States and Canada

Extinction rates are expected to increase during the Anthropocene. Current extinction rates of plants and many animals remain unknown. We quantified extinctions among the vascular flora of the continental United States and Canada since European settlement. We compiled data on apparently extinct species by querying plant conservation databases, searching the literature, and vetting the resulting list with botanical experts. Because taxonomic opinion varies widely, we developed an index of taxonomic uncertainty (ITU). The ITU ranges from A to F, with A indicating unanimous taxonomic recognition and F indicating taxonomic recognition by only a single author. The ITU allowed us to rigorously evaluate extinction rates. Our data suggest that 51 species and 14 infraspecific taxa, representing 33 families and 49 genera of vascular plants, have become extinct in our study area since European settlement. Seven of these taxa exist in cultivation but are extinct in the wild. Most extinctions occurred in the west, but this outcome may reflect the timing of botanical exploration relative to settlement. Sixty-four percent of extinct plants were single-site endemics, and many occurred outside recognized biodiversity hotspots. Given the paucity of plant surveys in many areas, particularly prior to European settlement, the actual extinction rate of vascular plants is undoubtedly much higher than indicated here.