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121.
An association has been reported between “low” maternal serum alpha-fetoprotein (MSAFP) and fetal chromosome abnormalities, notably Down syndrome. We suggest the predictive value be used for genetic counselling when a “low” MSAFP is found, and present an illustrative risk table. It can also be seen that normal MSAFP in a woman may lower her age-related risks below that previously defined as “high risk”. However, until good estimates of sensitivity and specificity are available from prospective, population based studies, patients should be told that any risk estimates are rough approximations. When good estimates are available, use of age risks alone may become obsolete.  相似文献   
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This study examines ozone (O3) predictions from the Community Multiscale Air Quality (CMAQ) model version 4.5 and discusses potential factors influencing the model results. Daily maximum 8-h average O3 levels are largely underpredicted when observed O3 levels are above 85 ppb and overpredicted when they are below 35 ppb. Using a clustering approach, model performance was examined separately for several different synoptic regimes. Under the most common synoptic conditions of a typical summertime Bermuda High setup, the model showed good overall performance for O3, while associations have been identified here between other, less frequent, synoptic regimes and the O3 overprediction and underprediction biases. A sensitivity test between the CB-IV and CB05 chemical mechanisms showed that predictions of daily maximum 8-h average O3 using CB05 were on average 7.3% higher than those using CB-IV. Boundary condition (BC) sensitivity tests show that the overprediction biases at low O3 levels are more sensitive to the BC O3 levels near the surface than BC concentrations aloft. These sensitivity tests also show the model performance for O3 improved when using the global GEOS-CHEM BCs instead of default profiles. Simulations using the newest version of the CMAQ model (v4.6) showed a small improvement in O3 predictions, particularly when vertical layers were not collapsed. Collectively, the results suggest that key synoptic weather patterns play a leading role in the prediction biases, and more detailed study of these episodes are needed to identify further modeling improvements.  相似文献   
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An amniocentesis was performed on a 22-week pregnancy following the detection of foetal abnormalities on ultrasound. A rapid aneuploid screen using fluorescence in situ hybridisation on uncultured amniotic fluid cells revealed 3 signals for chromosome 21, consistent with trisomy 21. In situ metaphase cultures revealed a 46,XY normal male karyotype. These discordant results may be explained by a sub-standard batch of the commercially available probe or alternatively, a very specific variation within the sample interacting with the probe. Alternative strategies are proposed in order to safeguard against inappropriate clinical action as a consequence of discordant results. Copyright © 2003 John Wiley & Sons, Ltd.  相似文献   
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Prenatal specimens were received from a fetus with abnormalities noted on ultrasound. A supernumerary marker chromosome (SMC) was detected: 47,XY,+mar. Fluorescence in situ hybridisation (FISH) further classified this to be partial tetrasomy for chromosome 14. We compare this finding with other cases of SMC (14) and further classify phenotype with karyotype. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
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ABSTRACT: The Louisiana Environmental Management System (LEMS) is a data processing program developed to aid the Louisiana Joint Legislative Committee on Environmental Quality in decisions leading to resources legislation. Serving as a central data collection and retrieval point for various agencies, the LEMS will maintain assembled information on the location of monitoring stations and coordinate the files of user agencies with data on: land use; air and water quality; meteorological, climatological, and hydrological phenomena; vegetation; fish and wildlife conservation; population; and economics. This data is geographically stored in relation to the state plane coordinate system. For decision making, all pertinent hydrologic, topographic, engineering, cadastral, and other information from separate sources can be automatically mapped as a combined overlay to one of three chosen scales. Land-use patterns are the input data for iterative analyses of present conditions and simulated future human activities for assessing the environmental impact of proposed multiple-purpose water resource developments.  相似文献   
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This paper discusses the need for critically evaluating regional-scale (~200–2,000 km) three-dimensional numerical photochemical air quality modeling systems to establish a model’s credibility in simulating the spatio-temporal features embedded in the observations. Because of limitations of currently used approaches for evaluating regional air quality models, a framework for model evaluation is introduced here for determining the suitability of a modeling system for a given application, distinguishing the performance between different models through confidence-testing of model results, guiding model development and analyzing the impacts of regulatory policy options. The framework identifies operational, diagnostic, dynamic, and probabilistic types of model evaluation. Operational evaluation techniques include statistical and graphical analyses aimed at determining whether model estimates are in agreement with the observations in an overall sense. Diagnostic evaluation focuses on process-oriented analyses to determine whether the individual processes and components of the model system are working correctly, both independently and in combination. Dynamic evaluation assesses the ability of the air quality model to simulate changes in air quality stemming from changes in source emissions and/or meteorology, the principal forces that drive the air quality model. Probabilistic evaluation attempts to assess the confidence that can be placed in model predictions using techniques such as ensemble modeling and Bayesian model averaging. The advantages of these types of model evaluation approaches are discussed in this paper.  相似文献   
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