63 research outputs found
Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data
Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis
textabstractPurpose: To assess the cost-effectiveness of Multiplex Ligation-dependent Probe Amplification (MLPA, P095 kit) compared to karyotyping. Methods: A cost-minimization analysis alongside a nationwide prospective clinical study of 4,585 women undergoing amniocentesis on behalf of their age (ā„36Ā years), an increased risk following first trimester prenatal screening or parental anxiety. Results: Diagnostic accuracy of MLPA (P095 kit) was comparable to karyotyping (1.0 95% CI 0.999-1.0). Health-related quality of life did not differ between the strategies (summary physical health: mean difference 0.31, pĀ =Ā 0.82; summary mental health: mean difference 1.91, pĀ =Ā 0.22). Short-term costs were lower for MLPA: mean difference ā¬315.68 (bootstrap 95% CI ā¬315.63-315.74; -44.4%). The long-term costs were slightly higher for MLPA: mean difference ā¬76.42 (bootstrap 95% CI ā¬71.32-81.52; +8.6%). Total costs were on average ā¬240.13 (bootstrap 95% CI ā¬235.02-245.23; -14.9%) lower in favor of MLPA. Cost differences were sensitive to proportion of terminated pregnancies, sample throughput, individual choice and performance of tests in one laboratory, but not to failure rate or the exclusion of polluted samples. Conclusion: From an economic perspective, MLPA is the preferred prenatal diagnostic strategy in women who undergo amniocentesis on behalf of their age, following prenatal screening or parental anxiety
Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities
Data Work in a Knowledge-Broker Organization: How Cross-Organizational Data Maintenance shapes Human Data Interactions.
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Beyond ecosystem modeling: a roadmap to community cyberinfrastructure for ecological dataāmodel integration
In an era of rapid global change, our ability to understand and predict Earth's natural systems is lagging behind our ability to monitor and measure changes in the biosphere. Bottlenecks to informing models with observations have reduced our capacity to fully exploit the growing volume and variety of available data. Here, we take a critical look at the information infrastructure that connects ecosystem modeling and measurement efforts, and propose a roadmap to community cyberinfrastructure development that can reduce the divisions between empirical research and modeling and accelerate the pace of discovery. A new era of dataāmodel integration requires investment in accessible, scalable, transparent tools that integrate the expertise of the whole community, including both modelers and empiricists. This roadmap focuses on five key opportunities for community tools: the underlying foundationsof community cyberinfrastructure; data ingest; calibration of models to data; modelādata benchmarking; and data assimilation and ecological forecasting. This communityādriven approach is key to meeting the pressing needs of science and society in the 21st century
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: Results of the TRIDENT study
PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origin
Rapid Detection of Hydrocarbon Contamination in Ground Water and Soil
In situ fluorometry is being developed as a method for rapidly detecting and quantifying hydrocarbon contamination in ground water and soil. The results of a fluorometry survey over a site having known fuel contamination are compared to results from a soil gas survey over the same site. The fluorometry data showed three additional contaminated areas that were not detected by soil gas measurements. Soil analyses confirmed the presence of the contaminated areas
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