Prenatal diagnosis for huntington's disease: A molecular and psychological study

Two linked probes were used to determine the Huntington's disease status of the fetus conceived by a woman affected with the condition. The fetus was found to be unaffected with a certainty of 97 per cent. The ethical issues associated with presymptomatic testing were avoided since the mother presented with initial symptoms of Huntington's disease, but other psychological and ethical issues arose. The concerns of an affected woman planning a pregnancy, and the dilemmas involved in decision-making regarding prenatal diagnosis and possible selective abortion were exposed and explored with the patient and her husband.     

Parental response to mid-trimester therapeutic abortion following amniocentesis

This article reports the results of a retrospective study designed to examine the responses of couples to genetic amniocentesis and subsequent therapeutic abortions due to birth defects. Fourteen women and 12 men were interviewed by experienced interviewers using a structured format designed by the authors, and each interview was audiotaped for later rating. The 5 raters (all women) were instructed to independently rate each interview using forms designed by the authors to elicit information about many aspects of the participant's individual responses as well as perceptions of spouse's responses to the process of pregnancy, amniocentesis, therapeutic abortion, and sequelae. Ratings of all 5 raters were conjoined and an homogeneous narrative was constructed for each interview. Results indicate, in general, that the respondent couples coped well with this experience. In fact 70 per cent of the respondent couples described their marital relationships as becoming closer as a result of their experience. Only a few participants reported long-term deleterious effects. Most couples coped by relying on relatives, friends, and occasionally, professional counsellors. In addition, most participants in this study suggested ways to improve the medical and psychological aspects of this experience.     

Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridization

In this paper we describe the use of five-colour fluorescence in situ hybridization for prenatal diagnosis of aneuploidy using uncultured amniotic fluid cells. The analysis is based on ratio mixing of dual-labelled probes and digital imaging for the detection and visualization of five different probes specific for the five target chromosomes, 13, 18, 21, X, and Y. A retrospective blind analysis of 30 coded uncultured amniotic fluid samples correctly detected fetal sex and five trisomy 21 cases. Multicolour fluorescence in situ hybridization used in this way allows rapid and simultaneous detection of the most frequent aneuploidies.     

Prenatal diagnosis of infantile GM 2 gangliosidosis type II (sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography

Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oli-gosaccharides was identical with that obtained with neonatal and infantile Sandhoff urine. The concentration of the oligosaccharides in the fluid was 1/100th that of urine but when calculated relative to creatinine the levels were similar. No oligosaccharides were detected in normal control amniotic fluids (10 patients) at a similar gestational age. Based on the levels of the amniotic fluid oligosaccharides and the sensitivity limits of the assay, prenatal diagnosis of patients with the juvenile onset form of the disease may also be possible with this technique.     

Counter-disaster training in developing countries

This paper discusses both the need for training within a wider context of community disaster preparedness and the major alternatives in methods of training. Emphasis is placed on the importance of compatibility between the resources within a given country and appropriate training programmes.     

Book reviews

Earth Politics. Ernst Ulrich von Weizsacker, 1994, London, Zed Books, 234 pp. ISBN 1 85649 174 9, pb £14.95; hb £36.95

Greening Your Local Authority. Janice Morphet (Ed.), 1994, London, Pitman Publishing (originally Harlow, Longman), 144 pp. ISBN 0582 229 065, pb £32.50

Ecology and Society: an introduction. Luke Martell, 1994 London, Polity Press, 250 pp. ISBN 0 7456 1022 6, hb £39.50, ISBN 0 7456 1023 4, pb £11.95

The Politics of the Environment. Robert E. Goodin, 1994. Cheltenham, Edward Elgar, 599 pp. ISBN 1 85278 872 0, hb £115.00

Introduction to Environmental Impact Assessment John Glasson, Riki Therivel & Andrew Chadwick, 1994, London, UCL Press, 352 pp. ISBN 1 85728 117 9, hb £45.00, ISBN 1 85728 118 7, pb £14.95

Planning for the Planet: sustainable development strategies for local and strategic plans. Friends of the Earth, 1994, London, FoE, 104 pp. ISBN 1 85750 224 8, £12.00

Environmental Strategy and Sustainable Development: the corporate challenge for the 21st century. Richard Welford, 1995, London, Routledge, 240 pp. ISBN 0 415 10551 X, hb £40.00, ISBN 0 415 10552 8, pb £12.99

Housing and the Environment: a new agenda. Mark Bhatti, Jane Brooke & Mike Gibson (Eds), 1994, Foreword by Jonathon Porritt, Coventry, Chartered Institute of Housing, 210 pp. ISBN 0 901 607 738, £14.95     

Focusing biodiversity research on the needs of decision makers

The project on Biodiversity Uncertainties and Research Needs (BURN) ensures the advancement of usable knowledge on biodiversity by obtaining input from decision makers on their priority information needs about biodiversity and then using this input to engage leading scientists in designing policy-relevant research. Decision makers articulated concerns related to four issues: significance of biodiversity; status and trends of biodiversity; management for biodiversity; and the linkage of social, cultural, economic, legal, and biological objectives. Leading natural and social scientists then identified the research required to address the decision makers' needs and determined the probability of success. The diverse group of experts reached consensus on several fundamental issues, helping to clarify the role of biodiversity in land and resource management. The BURN participants identified several features that should be incorporated into policy-relevant research plans and management strategies for biodiversity. Research and assessment efforts should be: multidisciplinary and integrative, participatory with stakeholder involvement, hierarchical (multiple scales), and problem- and region-specific. The activities should be focused regionally within a global perspective. Meta-analysis of existing data is needed on all fronts to assess the state of the science. More specifically, the scientists recommended six priority research areas that should be pursued to address the information needs articulated by decision makers: (1) characterization of biodiversity, (2) environmental valuation, (3) management for sustainability—for humans and the environment (adaptive management), (4) information management strategies, (5) governance and stewardship issues, and (6) communication and outreach. Broad recommendations were developed for each research area to provide direction for research planning and resource management strategies. The results will directly benefit those groups that require biodiversity research to address their needs—whether to develop policy, manage natural resources, or make other decisions affecting biodiversity.