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41.
This study provides data on the incidence of fetal trisomies 21, 18, and 13 at 9–14 weeks' gestation in women aged 35–45 years and estimates of maternal age-specific risks in women aged 20–45 years. Our data from 5814 singleton pregnancies undergoing first-trimester karyotyping for the sole indication of maternal age ⩾ 35 years were combined with those from two previous reports and the incidence of the trisomies was calculated from a total of 15 793 pregnancies. Comparison of incidences at 9–14 weeks' gestation with published data at 15–20 weeks' gestation and in livebirths demonstrated that at birth the maternal age-specific incidence of trisomy 21 is 33 per cent lower than at 15–20 weeks' gestation and 54 per cent lower than at 9–14 weeks' gestation. Furthermore, the relative frequency of trisomies 18 and 13 decreases from 30 per cent at 9–14 weeks to 22 per cent at 15–20 weeks and 14 per cent at birth.  相似文献   
42.
Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the‘severe’ or the‘questionable’ group of chromosome anomalies. Ninety-three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p <0·0001). The association of ultrasound anomalies and termination was highly significant (p< 0·001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.  相似文献   
43.
A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.  相似文献   
44.
An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non-fluorescent marker. C-banding identified the marker as an isodicentric in 12 cells. In two cells, the non-fluorescent marker appeared to be monocentric and looked like a non-fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y-specific centromeric probe confirmed the Y-chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.  相似文献   
45.
/ Land use/land cover classifications for 1973 and 1991, derived from the interpretation of satellite imagery, are quantified on the basis of biophysical land units in a study area in southeastern Australia. Nutrient export potentials are estimated for each land unit based on their composition of land use/land cover classes. Spatial and temporal comparisons are made of the land units based on the calculated pollution hazard indicators to provide an insight into changes in the state of the environment and the regional significance of land use changes. For example, one ecosystem, unique to the study, showed a large increase in pollution hazard over the study period as a manifestation of an 11-fold rise in cleared area and an expansion of cropping activities. The benefits to environmental management in general are discussed.KEY WORDS: Land cover change; Nutrient export; Environmental condition; Pollution hazard; Agricultural pollution; Nonpoint source pollution; Diffuse pollution; Environmental degradation  相似文献   
46.
Numerous studies have evaluated air quality and greenhouse gas mitigation benefits of biomass energy systems, but the potential environmental impacts associated with large-scale changes in land-use patterns needed to produce energy crops have not been quantified. This paper presents a framework to assess the potential soil, water, and biodiversity impacts that may result from the large-scale production of dedicated energy crops. The framework incorporates producer economic decision models with environmental models to assess changes in land use patterns and to quantify the consequent environmental impacts. Economic and policy issues that will affect decisions to produce energy crops are discussed. The framework is used to evaluate erosion and chemical runoff in two Tennessee regions. The analysis shows that production of dedicated energy crops in place of conventional crops will significantly reduce erosion and chemical runoff.  相似文献   
47.
Cardiovascular disease has severe consequences for both individual betterment and organizational health. Yet, organization‐based cardiovascular research remains quite limited. This commentary addresses this void by integrating research dating from the famous Hawthorne experiments with current medical science. It then suggests future organizational research on cardiovascular health and recommends use of specific composite cardiovascular measures to advance our understanding of the organizational implications of cardiovascular disease. Copyright © 2006 John Wiley & Sons, Ltd.  相似文献   
48.
Community-based monitoring (CBM) activities in Canada are increasing. A conceptual framework developed for and used to guide a pilot CBM project in 31 Canadian communities is evaluated. The framework provided the strategic direction necessary for successful implementation of the pilot and proved useful in the training of community coordinators hired for the project. Limitations of the framework include its inadequate attention to community diversity, its linearity, and insufficient expression of the adaptive and synergistic nature of its components. In order to support local sustainability, CBM appears to require an approach that is context-specific, iterative, and adaptive. Given these emergent characteristics, an enhanced conceptual framework for CBM in Canada is developed based on four dynamic themes: community mapping, participation assessment, capacity building, and information delivery.  相似文献   
49.
Screening is a critical decision-stage in the Environmental Impact Assessment (EIA) process and involves the determination of whether or not a development proposal will require EIA. This decision requires a discretionary judgement on whether the development has the potential to cause ‘significant environmental effects’, and consequently there is potential for diversity to exist in formal requests for EIA. Drawing upon a comprehensive survey of Local Planning Authorities (LPAs) in England and Wales, this paper explores the characteristics of LPA screening decision making since the introduction of revised EIA regulations in March 1999. The paper starts with a theoretical overview of rationality, decision making and planning theory, followed by a brief review of the regulatory context of EIA screening. The research approach is then outlined and the survey findings are presented, including a detailed consideration of organizational and individual level analyses set within the context of planning theory judgement debates. Comparisons with other European countries are briefly made, before drawing conclusions and recommendations.  相似文献   
50.
Research on urban insect pollinators is changing views on the biological value and ecological importance of cities. The abundance and diversity of native bee species in urban landscapes that are absent in nearby rural lands evidence the biological value and ecological importance of cities and have implications for biodiversity conservation. Lagging behind this revised image of the city are urban conservation programs that historically have invested in education and outreach rather than programs designed to achieve high‐priority species conservation results. We synthesized research on urban bee species diversity and abundance to determine how urban conservation could be repositioned to better align with new views on the ecological importance of urban landscapes. Due to insect pollinators’ relatively small functional requirements—habitat range, life cycle, and nesting behavior—relative to larger mammals, we argue that pollinators put high‐priority and high‐impact urban conservation within reach. In a rapidly urbanizing world, transforming how environmental managers view the city can improve citizen engagement and contribute to the development of more sustainable urbanization.  相似文献   
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