Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

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 95^th and 99^th percentile and 62% for fetuses with NT≥99^th 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.     

Is there a commercially viable market for crop insurance in rural Bangladesh?

The study aims to assess the commercial viability of a potential crop insurance market in Bangladesh. In a large scale household survey, agricultural farm households were asked for their preferences for a hypothetical crop insurance scheme using double bounded (DB) contingent valuation (CV) method. Both revenue and production cost based indemnity payment approaches were applied to assess the commercial viability of a crop insurance program assuming a partner-agent (PA) model of insurance supply. Crop insurance is found marginally commercially viable in riverine flood plain areas. The expected indemnity payable consistently exceeds the expected insurance premium receivable by the insurer for the households living in wetland basin and coastal floodplain. We conclude that a uniform structure of crop insurance market does not exist in Bangladesh. The nature of the disaster risks faced by the farm households and the socio-economic characteristics of the rural farm communities need to be taken into careful consideration while designing such an insurance scheme.

Etiology and management of early pregnancy renal anhydramnios: Is there a place for serial amnioinfusions?

Early pregnancy renal anhydramios (EPRA) comprises congenital renal disease that results in fetal anhydramnios by 22 weeks of gestation. It occurs in over 1 in 2000 pregnancies and affects 1500 families in the US annually. EPRA was historically considered universally fatal due to associated pulmonary hypoplasia and neonatal respiratory failure. There are several etiologies of fetal renal failure that result in EPRA including bilateral renal agenesis, cystic kidney disease, and lower urinary tract obstruction. Appropriate sonographic evaluation is required to arrive at the appropriate urogenital diagnosis and to identify additional anomalies that allude to a specific genetic diagnosis. Genetic evaluation variably includes karyotype, microarray, targeted gene testing, panels, or whole exome sequencing depending on presentation. Patients receiving a fetal diagnosis of EPRA should be offered management options of pregnancy termination or perinatal palliative care, with the option of serial amnioinfusion therapy offered on a research basis. Preliminary data from case reports demonstrate an association between serial amnioinfusion therapy and short-term postnatal survival of EPRA, with excellent respiratory function in the neonatal period. A multicenter trial, the renal anhydramnios fetal therapy (RAFT) trial, is underway. We sought to review the initial diagnosis ultrasound findings, genetic etiologies, and current management options for EPRA.     

Showering in Flint, MI: Is there a DBP problem?

Lead contamination in the City of Flint, MI has been well documented over the past two years, with lead levels above the EPA Action Level until summer 2016. This resulted from an ill-fated decision to switch from Detroit water (Lake Huron) with corrosion control, to Flint River water without corrosion control. Although lead levels are now closer to normal, reports of skin rashes have sparked questions surrounding tap water in some Flint homes. This study investigated the presence of contaminants, including disinfection by-products (DBPs), in the hot tap water used for showering in the homes of residents in Flint. Extensive quantitative analysis of 61 regulated and priority unregulated DBPs was conducted in Flint hot and cold tap water, along with the analysis of 50 volatile organic compounds and a nontarget comprehensive, broadscreen analysis, to identify a possible source for the reported skin rashes. For comparison, chlorinated hot and cold waters from three other cities were also sampled, including Detroit, which also uses Lake Huron as its source water. Results showed that hot water samples generally contained elevated levels of regulated and priority unregulated DBPs compared to cold water samples, but trihalomethanes were still within regulatory limits. Overall, hot shower water from Flint was similar to waters sampled from the three other cities and did not have unusually high levels of DBPs or other organic chemicals that could be responsible for the skin rashes observed by residents. It is possible that an inorganic chemical or microbial contaminant may be responsible.     

Uncertainty,complexity and controversy in dolphin threat management: A role for post-normal science?

Managing fishing threats to populations of endemic, threatened Hector’s and Māui dolphins around New Zealand is a complex and controversial issue, underpinned by uncertain scientific knowledge. As such, it can be argued that it falls into the realm of post-normal science, which advocates transparency about uncertainties and stakeholder peer review of knowledge feeding into decision-making. This paper focuses on selected examples of modelling and risk assessment research relating to Hector’s and Māui dolphin threat management. It explores how knowledge is developed, shared and utilised by decision-makers, finding that uncertain scientific knowledge may be shared in ways that make it appear more certain, with some of the subjectivities involved in knowledge production hidden from view. Interviews with stakeholders illustrate how some stakeholders are aware of the subjectivities involved when uncertain knowledge underpins decision-making, so a lack of transparency may be leading to erosion of social trust in decisions made. This in turn can lead to a lack of support for dolphin conservation measures from key stakeholders such as the commercial fishing industry. The paper concludes that while moves towards increasing transparency and stakeholder involvement are apparent, a deeper embrace of post-normal science approaches to knowledge production and dissemination would contribute to effective dolphin threat management in New Zealand.     

Is there a silver lining? Aggregation and photo-transformation of silver nanoparticles in environmental waters

Is the aggregation of silver nanoparticles in environmental waters a silver lining? The answer is not simple. Clearly, however, the aggregation and photo-transformation of AgNPs are complicated and could be more significant than previously thought. The difference in the water chemistry that controls the aggregation and photo-transformation of AgNPs results in the varying behavior and fate of AgNPs among different water bodies.     

Is phenotypic plasticity a key mechanism for responding to thermal stress in ants?

Unlike natural selection, phenotypic plasticity allows organisms to respond quickly to changing environmental conditions. However, plasticity may not always be adaptive. In insects, body size and other morphological measurements have been shown to decrease as temperature increases. This relationship may lead to a physiological conflict in ants, where larger body size and longer legs often confer better thermal resistance. Here, we tested the effect of developmental temperature (20, 24, 28 or 32 °C) on adult thermal resistance in the thermophilic ant species Aphaenogaster senilis. We found that no larval development occurred at 20 °C. However, at higher temperatures, developmental speed increased as expected and smaller adults were produced. In thermal resistance tests, we found that ants reared at 28 and 32 °C had half-lethal temperatures that were 2 °C higher than those of ants reared at 24 °C. Thus, although ants reared at higher temperatures were smaller in size, they were nonetheless more thermoresistant. These results show that A. senilis can exploit phenotypic plasticity to quickly adjust its thermal resistance to local conditions and that this process is independent of morphological adaptations. This mechanism may be particularly relevant given current rapid climate warming.     

Environmental management system and human resource practices: is there a link between them in four Brazilian companies?

The aim of this article is to analyze the theoretical model proposed by [Jabbour CJC, Santos FCA. Relationships between human resource dimensions and environmental management in companies: proposal of a model. Journal of Cleaner Production 2008;16(1):51–8.] based on the data collected in four Brazilian companies. This model investigates how the phases of the environmental management system can be linked to human resource practices in order to attain continuous improvement of a company's environmental performance. Our aim is to contribute to a field, which has little empirical evidence. Although the interaction between the phases of the environmental management system and human resource practices is recommended by the specialized literature [Daily BF, Huang S. Achieving sustainability through attention to human resource factors in environmental management. International Journal of Operations and Production Management 2001;21(12):1539–52.], the results indicate that most of the theoretical assumptions could not be confirmed in these Brazilian companies.     

Can anomalies of fetal brain circulation be useful in the management of growth restricted fetuses?

Assessment of the fetal cerebral circulation provides important information on the hemodynamic changes associated with chronic hypoxia and intrauterine growth restriction. Despite the incorporation of new US parameters, the landmark for the fetal brain hemodynamic evaluation is still the middle cerebral artery. However, new vascular territories, such as the anterior and posterior cerebral arteries, might provide additional information on the onset of the brain sparing effect. The fractional moving blood volume estimation and three-dimensional power Doppler ultrasound indices are new techniques that seem to be promising in indentifying cases at earlier stages of vascular deterioration; still, they are not available for clinical application and more information is needed on the reproducibility and advantages of three-dimensional power Doppler ultrasound blood flow indices. In the past, the brain sparing effect was considered as a protective mechanism; however, recent information challenges this concept. There is growing evidence of an association between brain sparing effect and increased risk of abnormal neurodevelopment after birth. Even in mild late-onset intrauterine growth restriction affected fetuses with normal umbilical artery blood flow, increased cerebral blood perfusion can be associated with a substantial risk of abnormal neuroadaptation and neurodevelopment during childhood. © 2012 John Wiley & Sons, Ltd.     

Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes

Massively parallel sequencing has revolutionized our understanding of Mendelian disorders, and many novel genes have been discovered to cause disease phenotypes when mutant. At the same time, next-generation sequencing approaches have enabled non-invasive prenatal testing of free fetal DNA in maternal blood. However, little attention has been paid to using whole exome and genome sequencing strategies for gene identification in fetal disorders that are lethal in utero, because they can appear to be sporadic and Mendelian inheritance may be missed. We present challenges and advantages of applying next-generation sequencing approaches to gene discovery in fetal malformation phenotypes and review recent successful discovery approaches. We discuss the implication and significance of recessive inheritance and cross-species phenotyping in fetal lethal conditions. Whole exome sequencing can be used in individual families with undiagnosed lethal congenital anomaly syndromes to discover causal mutations, provided that prior to data analysis, the fetal phenotype can be correlated to a particular developmental pathway in embryogenesis. Cross-species phenotyping allows providing further evidence for causality of discovered variants in genes involved in those extremely rare phenotypes and will increase our knowledge about normal and abnormal human developmental processes. Ultimately, families will benefit from the option of early prenatal diagnosis. © 2014 John Wiley & Sons, Ltd.     

Fetal brain imaging in isolated congenital heart defects – a systematic review and meta-analysis

Congenital heart defects (CHDs) are associated with neurodevelopmental (ND) delay. This study aims to assess evidence for impaired prenatal brain development, in fetuses with CHD. A systematical search was performed, and 34 studies evaluating the fetal brain [magnetic resonance imaging (MRI) or ultrasound] in isolated CHD were included (1990–2015). Data regarding cerebral abnormalities, head circumference growth and middle cerebral artery flow were extracted. Prenatal MRI was studied in ten articles (445 fetuses), resulting in a pooled prevalence of 18% (95%CI −6%; 42%) for combined structural and acquired cerebral abnormalities. Prenatal head circumference was studied in 13 articles (753 fetuses), resulting in a pooled z-score of −0.51 (95%CI −0.84; −0.18). Doppler was studied in 21 articles (1412 fetuses), resulting in a lower middle cerebral artery pulsatility index (z-score −0.70 95%CI −0.99; −0.41) in left-sided CHD only. We conclude that prenatal MRI and ultrasound demonstrate brain abnormalities, delay in head growth and brainsparing in subgroups of CHD. However, large MRI studies are scarce, and ultrasound data are biased towards severe and left-sided CHD. Long-term follow-up studies correlating prenatal findings with postnatal ND outcome are limited, and data are lacking to support counseling families regarding ND outcome based on prenatal findings suggestive of altered brain development. © 2016 John Wiley & Sons, Ltd.     

Oncogenic Papillomavirus and Polyomavirus in Water Environments: Is There a Potential for Waterborne Transmission?

Waterborne exposure to human viruses through contact with sewage-contaminated water environments can result in infections associated with a wide range of illnesses. Gastrointestinal symptoms are the most commonly encountered manifestations of waterborne viral illness. Respiratory diseases, neurological diseases and paralysis can also occur. Whether viral infections resulting in health outcomes like cancer might also be transmitted by the waterborne route is unknown. Recently, viruses belonging to two oncogenic groups—Human Papillomaviruses (HPVs) and Human Polyomaviruses (HPyVs)—have been detected in urban sewages worldwide. The latter have also been identified in other water environments. HPVs are epitheliotropic viruses responsible for several diseases of skin and mucosae, from common warts to squamous intraepithelial lesions that can either heal or progress to invasive carcinoma of the cervix, vulva, vagina, penis, anus or oropharynx. Human PyVs infect different tissues and organs, causing infections that are usually subclinical in immunocompetent individuals but can be serious in immunocompromised hosts. These pathogens belong to a family of DNA tumour viruses. Merkel cell polyomavirus, a HPyV identified in recent years, has attracted much attention due to its link with a rare and aggressive form of human cancer. Merkel cell carcinoma, the incidence of which has tripled over the past two decades. JC polyomavirus and BK polyomavirus are also potentially oncogenic. The observed abundance and wide dissemination of HPVs and HPyVs in water environments strongly suggest the need to shed light on the fate of these viruses in water environments and to elucidate their potential for waterborne transmission. Such information is essential for the improvement of wastewater management programs in terms of both sewage treatment and water quality surveillance.     

Environmental management in Brazil: is it a completely competitive priority?

Current studies indicate a need to integrate environmental management with manufacturing strategy, including topics like cross-functional integration, environmental impact, and waste reduction. Nevertheless, such studies are relatively rare, existing still a need for research in specific regional contexts. At the same time, the results found are not unanimous. Due to these gaps, the objective of this article is to analyze if environmental management can be considered a new competitive priority for manufacturing enterprises located in Brazil. A cross-sectional survey was conducted with Brazilian companies certified by ISO 14001. Sixty-five valid questionnaires were analyzed through Structural Equation Modelling (SEM). The first conclusion is that environmental management presents a preventive approach in the sample analyzed, focused on eco-efficiency, what potentially do not to create a competitive advantage. This preventive approach inhibits environmental management from being regarded as a new competitive manufacturing priority, in the full sense as defined by the literature. Another important result is that environmental management, although following a preventive focus, may influence positively the four manufacturing priorities: cost, quality, flexibility and delivery.     

Climate risk insurance in Pacific Small Island Developing States: possibilities,challenges and vulnerabilities—a comprehensive review

Climate change has become one of the most compelling fields of empirical research over the last couple of decades, partly due to its socio-economic impacts. Using a meta-analysis of 235 peer-reviewed articles published between January 2010 and July 2020, this paper appraises climate change adaptation (CCA) research in Nepal and draws lessons for future adaptation planning. The number of research is observed to have increased significantly in recent years (2015–2020) although there is no consistent pattern over the review period and at the thematic level. Findings submit that the agriculture and food security has the highest number of publications (37%) followed by gender equality and social inclusion (18%) and forest, biodiversity and watershed management (16%). There are no studies found in rural and urban settlement theme. Geographic distribution of CCA studies revealed that over 40% studies were carried out from central Nepal, while no study was conducted in ten districts of eastern and western Nepal. The study focus was also discrete, and the perception and attitude and impact assessment of climate change were common agendas; however, the drivers of change and options for adaptation were understudied. CCA with multipronged initiatives provide a broader understanding of dynamics and governance of climate change that not only affects rural livelihoods, but also influences regional and global environments and biodiversity.