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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. 相似文献
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Dr. O. W. Jones Nolan E. Penn Stephen Shuchter Claire A. Stafford Teri Richards Colleen Kernahan Jennifer Gutierrez Patricia Cherkin Sylvia Reinsch Barbara Dixson 《黑龙江环境通报》1984,4(4):249-256
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. 相似文献
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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. 相似文献
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David Fowler Jennifer B. A. Muller Lucy J. Sheppard 《Water, Air, & Soil Pollution: Focus》2004,4(6):3-8
This paper provides the background to this special issue, outlining the extent to which the global atmospheric nitrogen cycle has been modified by human activity and outlining the range of effects. The global total emissions of reduced and oxidized nitrogen, amount to 124 Tg N, and exceed those from natural sources (34 Tg N) by almost a factor of four showing the extent to which anthropogenic activity has taken over the global N cycle. Of the 124 Tg N, 70 Tg N is emitted in the oxidized form, largely as NO and 70% of which results directly from anthropogenic activity. The remaining 54 Tg N is emitted as NH3, (66% anthropogenic). The enhanced nitrogen emissions are associated with a range of local, regional and global issues including, acidification, eutrophication, climate change, human health and tropospheric O3. The paper also places the Global Nitrogen Enrichment (GaNE) research programme in the UK in a wider perspective. 相似文献