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Objectives

To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities.

Methods

This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected.

Results

In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95th and 99th percentile and 62% for fetuses with NT≥99th percentile. Prevalence of single-gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively.

Conclusion

Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement.  相似文献   
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The persistence of pharmaceuticals, hormones, and household and industrial chemicals through a pure-oxygen activated sludge, nitrification, denitrification wastewater treatment facility was evaluated. Of the 125 micropollutants that were tested in this study, 55 compounds were detected in the untreated wastewater, and 27 compounds were detected in the disinfected effluent. The persistent compounds included surfactants, fire-retardant chemicals, pesticides, fragrance compounds, hormones, and one pharmaceutical. Physical-chemical properties of micropollutants that affected partitioning onto wastewater solids included vapor pressure and octanol-water partition coefficients.  相似文献   
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In this paper we examine the effect of crowding on the selection of a path in the mass-recruiting ant Lasius niger. In our experiment, ants had to go from their nest to a food source by crossing a diamond-shaped bridge, giving the choice between two paths. Two types of bridges were used: the first had two branches of equal length but different width while the second had two branches of different length and width. Experiments at high traffic volume always ended up with the selection of the wider branch, even if it was longer. This result shows that overcrowding on the narrow branch plays an essential role in the mechanism underlying the choice of route in ants. A mathematical model was developed to evaluate the importance of two mechanisms that could account for this result. The first is based on the difference in travel duration between the two paths. The second is based on the repulsive interactions between workers making head-on encounters. The model shows that travel duration per se is not sufficient to explain path choice. Rather, it is the interplay between trail following behaviour and repulsive interactions that allows ants to choose the path that minimizes their travel time. When choosing a path ants thus prefer to trade time against energy. Our results demonstrate that any environmental constraint that alters the dynamics of trail recruitment can lead to the emergence of adaptive foraging decisions without any explicit coding of information by the foragers at the individual level.  相似文献   
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As bioenergy production expands and new bioenergy-based technologies emerge, there is a growing concern regarding the sustainability of their ecological and socioeconomic impacts. Comprehensive sustainability assessments are needed to address this concern and to assure that the development of the bioenergy industry meets sustainability goals. Most sustainability assessments for bioenergy are expert-driven, broad, and largely motivated by an interest in optimizing international trade in bioenergy. As a result, social and cultural sustainability targets are vague or underdeveloped. In this study, we developed a sustainability assessment for a regional bioenergy production industry in Upper Michigan, using stakeholder participation. Semi-structured interviews and focus group meetings were used to elicit participants’ concerns and opinion. These concerns were translated into sustainability Criteria and Indicators (C&Is), many of which could be supported with available science. Some of the C&Is identified by participants were unique to the region. Sustainability C&Is were broadly categorized into economic (C = 5; I = 22), environmental (C = 6; I = 12), social (C = 3; I = 9), policy and regulations (C = 3; I = 13), and institutional capacity (C = 4; I = 13). While participants could identify indicators for most of the criteria (many of which are also supported by existing literature), further research and validation will be necessary to identify measurable, practical, and bias-free indicators for all criteria.  相似文献   
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