Fetal cardiac anomalies and genetic syndromes

Cardiac anomalies may occur in isolation or can be part of a genetic syndrome. In this article, we describe some of the genetic syndromes commonly associated with cardiac anomalies where there are other sonographic features that may aid accurate prenatal diagnosis. Copyright © 2004 John Wiley & Sons, Ltd.     

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Prenatal diagnosis of a de novo unbalanced translocation (4p + ) following in vitro fertilization

We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features.     

Discussing why population growth is still ignored or denied

Due to a number of factors outlined in this article, the issue of population growth is excluded from the sustainability discussion. In this article, we explore some of the ethical presumptions that underlie the issues linking population growth and sustainability. Critics argue that action to address population creates social and economic segregation, and portray overpopulation concerns as being “anti-poor,” “anti-developing country,” or even “antihuman.” Yet, de-linking demographic factors from sustainability concerns ignores significant global realities and trends, such as the ecological limits of the Earth, the welfare and long-term livelihood of the most vulnerable groups, future prospects of humanity, as well as the ecosystems that support society.     

Implications of different population model structures for management of threatened plants

Population viability analysis (PVA) is a reliable tool for ranking management options for a range of species despite parameter uncertainty. No one has yet investigated whether this holds true for model uncertainty for species with complex life histories and for responses to multiple threats. We tested whether a range of model structures yielded similar rankings of management and threat scenarios for 2 plant species with complex postfire responses. We examined 2 contrasting species from different plant functional types: an obligate seeding shrub and a facultative resprouting shrub. We exposed each to altered fire regimes and an additional, species‐specific threat. Long‐term demographic data sets were used to construct an individual‐based model (IBM), a complex stage‐based model, and a simple matrix model that subsumes all life stages into 2 or 3 stages. Agreement across models was good under some scenarios and poor under others. Results from the simple and complex matrix models were more similar to each other than to the IBM. Results were robust across models when dominant threats are considered but were less so for smaller effects. Robustness also broke down as the scenarios deviated from baseline conditions, likely the result of a number of factors related to the complexity of the species’ life history and how it was represented in a model. Although PVA can be an invaluable tool for integrating data and understanding species’ responses to threats and management strategies, this is best achieved in the context of decision support for adaptive management alongside multiple lines of evidence and expert critique of model construction and output.     

Driving while impaired by alcohol: An analysis of drink-drivers involved in UK collisions

Objective: Drink-driving represents a critical issue on international organizations’ agendas as one of the key behavioral risk factors in road traffic safety, alongside speed and nonuse of motorcycle helmets, seat belts, and child restraints. Changing road user behaviors regarding these 5 factors is a critical component in reducing road traffic injuries and casualties. The objective of this study is the identification of drivers who are more likely to contribute to crashes in the UK while impaired by alcohol to design targeted drink drive compliance campaigns.

Method: To profile drivers with the factor “impaired by alcohol” assigned in collisions, an extensive data set is used, including all reported injury collisions between 2011 and 2015 in the UK (police records), merged with the Experian Mosaic Database. A multilevel mixed-effects logistic regression is conducted, utilizing the hierarchical nature of the data (drivers within Mosaic types).

Results: Using multilevel mixed-effects logistic regression analysis, the finding is that some driver profiles are more likely to contribute to crashes and are assigned the contributory factor “impaired by alcohol.” Drink-related crashes are more common in some circumstances or for some crash-involved driver groups than others. For instance, alcohol-related crashes are more likely to occur on single carriageways and among males and 25- to 35-year-olds. Drink-drive-related crashes are found to be strongly associated with dark lighting conditions and, more specifically, with late night hours (the interval between 3:00 a.m. and 4:00 a.m. accounts for a third of the drink-drive-related collisions). Using the Experian Mosaic Database which divides the UK population into 66 types based on demographic, lifestyle, and behavior characteristics, the finding is that, among crash-involved drivers, some Mosaic types are significantly more likely (e.g., pocket pensions, dependent greys, streetwise singles) and others are significantly less likely (e.g., crowded kaleidoscope, cultural comfort, penthouse chic) to contribute to a drink-related crash.

Conclusions: The outcome is a more nuanced understanding of drivers contributing to drink-related crashes in the UK. The study concludes by discussing the implications for governments and other interested bodies for better targeting and delivery of public education campaigns and interventions.     

Our future in the Anthropocene biosphere

The COVID-19 pandemic has exposed an interconnected and tightly coupled globalized world in rapid change. This article sets the scientific stage for understanding and responding to such change for global sustainability and resilient societies. We provide a systemic overview of the current situation where people and nature are dynamically intertwined and embedded in the biosphere, placing shocks and extreme events as part of this dynamic; humanity has become the major force in shaping the future of the Earth system as a whole; and the scale and pace of the human dimension have caused climate change, rapid loss of biodiversity, growing inequalities, and loss of resilience to deal with uncertainty and surprise. Taken together, human actions are challenging the biosphere foundation for a prosperous development of civilizations. The Anthropocene reality—of rising system-wide turbulence—calls for transformative change towards sustainable futures. Emerging technologies, social innovations, broader shifts in cultural repertoires, as well as a diverse portfolio of active stewardship of human actions in support of a resilient biosphere are highlighted as essential parts of such transformations.