Comprehensive prenatal diagnostics: Exome versus genome sequencing

Objective

This study aimed to assess the diagnostic yield of prenatal genetic testing using trio whole exome sequencing (WES) and trio whole genome sequencing (WGS) in pregnancies with fetal anomalies by comparing the results with conventional chromosomal microarray (CMA) analysis.

Methods

A total of 40 pregnancies with fetal anomalies or increased nuchal translucency (NT ≥ 5 mm) were included between the 12th and 21st week of gestation. Trio WES/WGS and CMA were performed in all cases.

Results

The trio WES/WGS analysis increased the diagnostic yield by 25% in cases with negative CMA results. Furthermore, all six chromosomal aberrations identified by CMA were independently detected by WES/WGS analysis. In total, 16 out of 40 cases obtained a genetic sequence variant, copy number variant, or aneuploidy explaining the phenotype, resulting in an overall WES/WGS diagnostic yield of 40%. WES analysis provided a more reliable identification of mosaic sequence variants than WGS because of its higher sequencing depth.

Conclusions

Prenatal WES/WGS proved to be powerful diagnostic tools for fetal anomalies, surpassing the diagnostic yield of CMA. They have the potential to serve as standalone methods for prenatal diagnosis. The study highlighted the limitations of WGS in accurately detecting mosaic variants, which is particularly relevant when analyzing chorionic villus samples.     

Heavy metals and pesticides in anuran spawn and tadpoles,water, and sediment

High concentrations of metals (cadmium, copper, lead, and zinc) and of lindane were measured in the sediment and in the spawn and tadpoles of Bufo bufo, Rana dalmatina, and Rana ridibunda from two Austrian locations. Residues in spawn suggest maternal transfer. Increase of the metal concentrations from spawn to advanced tadpole stage is explained by the larval microphaguous feeding habits which cause high exposition of the tadpoles to substances concentrating in sediments and suspended particles. Metal and pesticide concentrations in spawn and tadpoles are toxic to various other aquatic organisms and are furthermore considered to be potentially hazardous to the anurans themselves. The results are conform with world‐wide observations of contamination of anuran larvae with heavy metals, and prove the significance of non‐point source chemical exposure due to allochthonous toxicant input by wind load and precipitation.     

Pleasure Boatyard Soils are Often Highly Contaminated

The contamination in pleasure boatyards has been investigated. Measured concentrations of copper, zinc, lead, mercury, cadmium, tributyltin (TBT), the 16 most common polycyclic aromatic hydrocarbons (∑16 PAHs), and the seven most common polychlorinated biphenyls (∑7 PCBs) from investigations at 34 boatyards along the Swedish coast have been compiled. The maximum concentrations were 7,700 for Cu, 10,200, for Zn, 40,100 for Pb, 188 for Hg, 18 for Cd, 107 for TBT, 630 for carcinogenic PAHs, 1,480 for ∑16 PAHs, and 3.8 mg/kg DW for ∑7 PCB; all 10–2,000 higher than the Swedish environmental qualitative guidelines. In addition, the mean of the median values found at the 34 places shows that the lower guidance value for sensitive use of land was exceeded for the ∑7 PCBs, carcinogenic PAHs, TBT, Pb, Hg, and Cu by a factor of 380, 6.8, 3.6, 2.9, 2.2 and 1.7, respectively. The even higher guideline value for industrial use was exceeded for the ∑7 PCBs and TBT by a factor of 15 and 1.8, respectively. TBT, PAHs, Pb, Cd, and Hg are prioritized substances in the European Water Framework Directive and should be phased out as quickly as possible. Because of the risk of leakage from boatyards, precautions should be taken. The high concentrations measured are considered to be dangerous for the environment and human health and highlight the urgent need for developing and enforcing pleasure boat maintenance guidelines to minimize further soil and nearby water contamination.     

Sources of heavy metal contamination in Swedish wood waste used for combustion

In this paper, wood waste (RWW) recovered for heat production in Sweden was studied. Previous research has concluded that RWW contains elevated amounts of heavy metals, causing environmental problems during waste management. This study extends previous work on RWW by analysing which pollution sources cause this contamination. Using existing data on the metal contents in various materials, and the amounts of these materials in RWW, the share of the elevated amounts of metals in RWW that these materials explain was quantified. Six different materials occurring in RWW were studied and the results show that they explain from 70% to 100% of the amounts of arsenic, chromium, lead, copper and zinc in RWW. The most important materials contributing to contamination of RWW are surface-treated wood, industrial preservative-treated wood, plastic and galvanised fastening systems. These findings enable the development and evaluation of strategies aiming to decrease pollution and resource loss from handling RWW. It is argued that source separation and measures taken further downstream from the generation site, such as treatment, need to be combined to substantially decrease the amount of heavy metals in RWW.     

Stabilization of thioarsenates in iron-rich waters

In recent years, thioarsenates have been shown to be important arsenic species in sulfidic, low-iron waters. Here, we show for the first time that thioarsenates also occur in iron-rich ground waters, and that all methods previously used to preserve arsenic speciation (acidification, flash-freezing, or EDTA addition) fail to preserve thioarsenates in such matrices. Laboratory studies were conducted to identify the best approach for stabilizing thioarsenates by combination and modification of the previously-applied methods. Since acidification was shown to induce conversions between thioarsenates and precipitation of arsenic-sulfide minerals, we first conducted a detailed study of thioarsenate preservation by flash-freezing. In pure water, thioarsenates were stable for 21 d when the samples were flash-frozen and cryo-stored with a minimal and anoxic headspace. Increasing headspace volume and oxygen presence in the headspace were detrimental to thioarsenate stability during cryo-storage. Addition of NaOH (0.1 M) or EtOH (1% V/V) counteracted these effects and stabilized thioarsenates during cryo-storage. Addition of Fe(II) to thioarsenate solutions caused immediate changes in arsenic speciation and a loss of total arsenic from solution during cryo-storage. Both effects were largely eliminated by addition of a neutral EDTA-solution, and thioarsenates were significantly stabilized during cryo-storage by this procedure. Neutralization of EDTA was required to prevent alteration of thioarsenate speciation through pH change. With the modified method (anoxic cryo-preservation by flash-freezing with minimal headspace after addition of neutralized EDTA-solution), the fractions of mono- and dithioarsenate, the two thioarsenates observed in the iron-rich ground waters, remained stable over a cryo-storage period of 11 d. Further modifications are needed for the higher SH-substituted thioarsenates (tri- and tetrathioarsenate), which were not encountered in the studied iron-rich ground waters.     

Sustainable Development by Design: Review of Life Cycle Design and Related Approaches

Abstract

The quality of stationary source emission factors is typically described using data quality ratings, which provide no quantification of the precision of the emission factor for an average source, nor of the variability from one source to another within a category. Variability refers to actual differences caused by differences in feedstock composition, design, maintenance, and operation. Uncertainty refers to lack of knowledge regarding the true emissions. A general methodology for the quantification of variability and uncertainty in emission factors, activity factors, and emission inventories (EIs) is described, featuring the use of bootstrap simulation and related techniques. The methodology is demonstrated via a case study for a selected example of NO_x emissions from coal-fired power plants. A prototype software tool was developed to implement the methodology. The range of interunit variability in selected activity and emission factors was shown to be as much as a factor of 4, and the range of uncertainty in mean emissions is shown to depend on the interunit variability and sample size. The uncertainty in the total inventory of ?16 to +19% was attributed primarily to one technology group, suggesting priorities for collecting data and improving the inventory. The implications for decision-making are discussed.     

Improvement of Air Quality in a Small Indoor Ice Arena by Effective Emission Control in Ice Resurfacers

ABSTRACT

The effectiveness of a new emission control system in the ice resurfacer was tested in an exhaust gas emission laboratory, and the improvement of the air quality in a small, enclosed ice arena was demonstrated in a 4.5-month follow-up study. The emission control system consisted of a lambda sensor-controlled fuel supply and a three-way metallic catalyst that were applied to a propane-fueled resurfacer. In the laboratory tests, the engine emissions of carbon monoxide (CO), hydrocarbons (HC), and nitrogen oxides (NO ) reduced simultaneously by 91, 90, and 96%, respectively. During the air quality follow-up the median 1-hour average nitrogen dioxide (N0₂) concentration inside the ice arena decreased from 430 ug/m³ (230ppb) to 58 ug/m³ (31 ppb), and that of CO decreased from 4.4 mg/m³ (3.8 ppm) to 1.5 mg/m³ (1.3 ppm). The new emission control system proved to be a feasible, reliable, and effective means to improve the indoor air quality in the ice arena. However, continuous mechanical ventilation was necessary during all business hours in order to achieve and maintain a fully acceptable air quality with this technology.