Prenatal DNA Sequencing: Clinical,Counseling, and Diagnostic Laboratory Considerations

Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation, and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history, and the physical examination is only indirectly available via prenatal sonography. Here, we provide an overview of these challenges and highlight the clinical utility, reporting, and counseling issues associated with prenatal DNA sequencing. Future considerations are also discussed. © 2017 John Wiley & Sons, Ltd.     

Prenatal diagnosis of congenital cystic adenomatoid lung malformation: A report of seven cases

Six cases of macrocystic and one case of microcystic congenital adenomatoid lung malformation were diagnosed by ultrasound between 20 and 31 weeks of gestation. Combined polyhydramnios and fetal hydrops was present in three cases, polyhydramnios alone in one case, and isolated fetal hydrops also in one case. In the remaining two cases, both polyhydramnios and fetal hydrops were absent. Fetal outcome was poor, i.e., two terminations of pregnancy, three early neonatal deaths, and two survivors.     

Urban heat indicator map for climate adaptation planning

By 2050, 75 % of the world’s population will live in cities and the occurrence of heat wave events might have doubled. Mapping the climate and land use change impact for urban heat events should set the agenda for adaptation planning at the local scale. Literature on urban heat mapping does not reveal a clear indicator to visualise the urban heat impacts that includes consequences of land use and climate changes for planning purposes. This paper introduces a stepwise approach to develop a single complex indicator to map the urban heat impact for local climate adaptation planning processes. Information on climatic drivers and land use characteristics are combined and projected for future land use and climate change impacts. Next, several visualisation techniques are developed to investigate which techniques are most effective to visualise complex information with multiple variables in one visualisation. A usability test is performed to investigate how indicator and map meet the information and communication needs of policy makers. Our findings reveal that it is important to add information on future impacts to set the agenda for adaptation planning at the local scale. Applying cartographic techniques in a map series presentation has proven to be effective to map complex information in a single image and fulfil most of the identified information needs. Based on our finding, we introduce the information enrichment chain as a promising approach to support local adaptation planning.     

Identifying water resources management strategies in adaptation to climate change under uncertainty

In this study, an integrated simulation-based allocation modeling system (ISAMS) is developed for identifying water resources management strategies in response to climate change. The ISAMS incorporates global climate models (GCMs), a semi-distributed land use-based runoff process (SLURP) model, and a multistage interval-stochastic programming (MISP) approach within a general framework. The ISAMS can not only handle uncertainties expressed as probability distributions and interval values but also reveal climate change impacts on water resources allocation under different projections of GCMs. The ISAMS is then applied to the Kaidu-kongque watershed with cold arid characteristics in the Tarim River Basin (the largest inland watershed basin in China) for demonstrating its efficiency. Results reveal that different climate change models corresponding to various projections (e.g., precipitation and temperature) would lead to changed water resources allocation patterns. Variations in water availability and demand due to uncertainties could result in different water allocation targets and shortages. A variety of decision alternatives about water allocations adaptive to climate change are generated under combinations of different global climate models and ecological water release plans. These findings indicate that understanding the uncertainties in water resources system, building adaptive methods for generating sustainable water allocation patterns, and taking actions for mitigating water shortage problems are key adaptation strategies responding to climate change.     

Impact assessment of climate policy on Poland's power sector

This article addresses the impact of the European Union Emissions Trading System (EU ETS) on Poland’s conventional energy sector in 2008–2020 and further till 2050. Poland is a country with over 80% dependence on coal in the power sector being under political pressure of the European Union’s (EU) ambitious climate policy. The impact of the increase of the European Emission Allowance (EUA) price on fossil fuel power sector has been modelled for different scenarios. The innovation of this article consists in proposing a methodology of estimation actual costs and benefits of power stations in a country with a heavily coal-dependent power sector in the process of transition to a low-carbon economy. Strong political and economic interdependence of coal and power sector has been demonstrated as well as the impact caused by the EU ETS participation in different technology groups of power plants. It has been shown that gas-fuelled combined heat and power units are less vulnerable to the EU ETS-related costs, whereas the hard coal-fired plants may lose their profitability soon after 2020. Lignite power plants, despite their high emissivity, may longer remain in operation owing to low operational costs. Additionally, the results of long-term, up to 2050, modelling of Poland’s energy sector supported an unavoidable need of deep decarbonisation of the power sector to meet the post-Paris climate objectives. It has been concluded that investing in coal-based power capacity may lead to a carbon lock-in of the power sector. Finally, the overall costs of such a transformation have been discussed and confronted with the financial support offered by the EU. The whole consideration has been made in a wide context of changes ongoing globally in energy markets and compared with some other countries seeking transformation paths from coal. Poland’s case can serve as a lesson for all countries trying to reduce coal dependence in power generation. Reforms in the energy sector shall from the very beginning be an essential part of a sustainable transition of the whole nation’s economy. They must scale the power capacity to the future demand avoiding stranded costs. The reforms must be wide-ranging, based on a wide political consensus and not biased against the coal sector. Future energy mix and corresponding technologies shall be carefully designed, matched and should remain stable in the long-term perspective. Coal-based power capacity being near the end of its lifetime provides an economically viable option to commence a fuel switch and the following technology replacement. Real benefits and costs of the energy transition shall be fairly allocated to all stakeholders and communicated to the society. The social costs and implications in coal-dependent regions may be high, especially in the short-term perspective, but then the transformation will bring profits to the whole society.     

Congenital syphilis: A contemporary update on an ancient disease

Congenital syphilis (CS) rates reached a 20-year high in the United States in 2018. Unlike previous years, most babies diagnosed with CS were born to mothers who received prenatal care, indicative of the need for better provider education and guideline adherence. Current rates suggest that screening for syphilis should be performed at the first prenatal care visit and twice during the third trimester. There are two diagnostic algorithms available for use in the United States (traditional and reverse) and providers must understand how to perform each algorithm. Treatment should be administered according to stage of syphilis per Centers for Disease Control recommendations with best neonatal outcomes seen when treatment is initiated >30 days before delivery. Benzathine Penicillin G remains the only recommended treatment of syphilis during pregnancy. In viable pregnancies, a pretreatment ultrasound is recommended to identify sonographic evidence of fetal infection and treatment should be initiated with continuous fetal monitoring to evaluate for the Jarisch-Herxheimer reaction which can cause preterm labor and fetal distress. After adequate syphilotherapy, a fourfold decline in maternal nontreponemal titers may not be observed by delivery and does not correlate with rates of CS.     

Soil criteria to protect terrestrial wildlife and open-range livestock from metal toxicity at mining sites

Thousands of hard rock mines exist in the western USA and in other parts of the world as a result of historic and current gold, silver, lead, and mercury mining. Many of these sites in the USA are on public lands. Typical mine waste associated with these sites are tailings and waste rock dumps that may be used by wildlife and open-range livestock. This report provides wildlife screening criteria levels for metals in soil and mine waste to evaluate risk and to determine the need for site-specific risk assessment, remediation, or a change in management practices. The screening levels are calculated from toxicity reference values based on maximum tolerable levels of metals in feed, on soil and plant ingestion rates, and on soil to plant uptake factors for a variety of receptors. The metals chosen for this report are common toxic metals found at mining sites: arsenic, cadmium, copper, lead, mercury, and zinc. The resulting soil screening values are well above those developed by the US Environmental Protection Agency. The difference in values was mainly a result of using toxicity reference values that were more specific to the receptors addressed rather than the most sensitive receptor.     

Toxicodynamic modeling of 137Cs to estimate white-tailed deer background levels for the Department of Energy's Savannah River Site

The U.S. Department of Energy's (USDOE) Savannah River Site (SRS) is a former nuclear weapon material production and current research facility adjacent to the Savannah River in South Carolina, USA. The purpose of this study was to determine the background radiocesium (¹³⁷Cs) body burden (e.g., from global fallout) for white-tailed deer (Odocoileus virginianus) inhabiting the SRS. To differentiate what the background burden is for the SRS versus ¹³⁷Cs obtained from SRS nuclear activities, data were analyzed spatially, temporally and compared to other off-site hunting areas near the SRS. The specific objectives of this study were: to compare SRS and offsite deer herds based on time and space; to interpret comparisons based on how data were collected as well as the effect of environmental and anthropogenic influences; to determine what the ecological half-life/decay rate is for ¹³⁷Cs in the SRS deer herd; and to give a recommendation to what should be considered the background ¹³⁷Cs level in the SRS deer herd. Based on the available information and analyses, it is recommended that the determination of what is considered background for the SRS deer herd be derived from data collected from the SRS deer herd itself and not offsite collections for a variety of reasons. Offsite data show extreme variability most likely due to environmental factors such as soil type and land-use patterns (e.g., forest, agriculture, residential activities). This can be seen from results where samples from offsite military bases (Fort Jackson and Fort Stewart) without anthropogenic ¹³⁷Cs sources were much higher than both the SRS and a nearby (Sandhills) study site. Moreover, deer from private hunting grounds have the potential to be baited with corn, thus artificially lowering their ¹³⁷Cs body burdens compared to other free-ranging deer. Additionally, sample size for offsite collections were not robust enough to calculate a temporal decay curve with an upper confidence level to determine if the herds are following predicted radioactive decay rates like the SRS or if the variability is due to those points described above. Using mean yearly values, the ecological half-life for ¹³⁷Cs body burdens for SRS white-tailed deer was determined to be 28.79 years—very close to the 30.2 years physical half-life.