Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Objective

The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.

Methods

In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the sonographic detection of fetal congenital anomalies. The most common identified congenital anomalies were skeletal dysplasia (n = 20), multiple major fetal congenital anomalies (n = 17) and intracerebral structural anomalies (n = 7).

Results

A conclusive diagnosis was identified in 18 of the 54 cases (33%). Pathogenic variants were detected most often in fetuses with skeletal dysplasia (n = 11) followed by fetuses with multiple major fetal congenital anomalies (n = 4) and intracerebral structural anomalies (n = 3). A survey, completed by the physicians for 37 of 54 cases, indicated that the rWES results impacted clinical decision making in 68% of cases.

Conclusions

These results suggest that rWES improves prenatal diagnosis of fetuses with congenital anomalies, and has an important impact on prenatal and peripartum parental and clinical decision making.     

Clean Production and Ecological Industry: A Key to Eco-city Development

CHALLENGE OF URBANIZATION IN CHINAAccording to the forecast, the proportion of urbanpopulation in China will increase from about 35% todayto more than 50% in the next two decades. Due to thisprocess, huge areas of former agricultural and natural landare currently turned into build-up-areas and traffic-ways.Approximately 40-50% of this area will be developed forindustrial use. Further more, large sites occupied by oldindustry ("brownfields") will be redeveloped. Thisdevelopment of …     

Comprehensive urban planning and management at multiple scales based on ecological principles: a case study in Beijing,China

SUMMARY

Rapid urbanisation and serious environmental problems have led people worldwide to realise the significance of urban planning and management towards a sustainable environment. Beijing was used as a case study to develop a framework and strategies for sustainable development using ecological principles. At the regional level, Beijing-Tianjin agglomeration and Hebei Province are considered together. At the Beijing administrative level, some important measures are put forward for revision of the Beijing Urban Master Plan. At the Beijing plain level, the future spatial structure of Beijing city and the relationship between settlements, green space and transportation are considered, and three basic development patterns are proposed. At the inner district level, the ecological corridor system is suggested, based on ecosystem services. At the selected area level, a comprehensive strategy and key measures for conservation and renewal of old Beijing city core are provided. Once strategies for Beijing urban development are implemented step-by-step, a vision for future development can be achieved. This paper provides considerations for improvement of urban planning and management in China and other countries.     

In Flanders Fields: De/politicization and Democratic Debate on a GM Potato Field Trial Controversy in News Media

In May 2011, a highly mediatized direct action in the form of a “field liberation” took place in Flanders, Belgium, against a field trial of genetically modified potatoes. This direct action and its aftermath revealed the conflictual and antagonistic nature of the genetically modified organisms debate in Flanders. Consequently, it serves as a particularly suitable case to investigate the post-political thesis with regard to environmental discourse and politics. The aim of this paper is to investigate in what ways news media in their reporting contribute to processes of depoliticization and, resultantly, impede a democratic debate on the issues at stake. This paper attempts to provide an answer to this question based on a critical discourse analysis of the reporting by Flanders’ two generalist, elite newspapers, De Standaard and De Morgen and the alternative online news site DeWereldMorgen. The findings reveal the existence of three ideological cultures, which are characterized by different degrees of de/politicization. We conclude by discussing how this study adds to our understanding of the relation between the depoliticization of environmental discourse, democratic debate and twenty-first-century news media.