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.     

Adsorption of mono- and di-butyltin by a wheat charcoal: pH effects and modeling

Understanding adsorption processes of butyltins (BTs) such as monobutyltin (MBT) and dibutyltin (DBT) by black carbons is important for the evaluation of BT exposure risks to organisms and humans. However, relevant knowledge is scarce. In this study, the acidity constants pK_a,1 = 2.3, pK_a,2 = 3.5 and pK_a,3 = 5.9 for MBT and pK_a,1 = 3.0 and pK_a,2 = 5.1 for DBT are estimated via potentiometric titration. Additionally, adsorption isotherms of BTs to a wheat charcoal were determined. The adsorption behavior was observed to be pH-dependent due to BT speciation and the pH-dependent surface charge of the charcoal. MBT adsorption to the charcoal decreases with increasing pH from 4 to 8, while the highest adsorption occurs at pH 6 for DBT. Adsorption of the BTs is successfully described in the pH range of 3-10 by using a newly developed pH-dependent Dual Langmuir model. The model has the potential to predict the interaction of BT species with charcoal, which can contribute to the risk assessments of BTs in the environment.     

Recovery of copper from small grain size fractions of municipal solid waste incineration bottom ash by means of density separation

Small grain size fractions of municipal solid waste incineration (MSWI) bottom ash (BA) contain elemental and chemically bonded metals in appreciable amounts, especially copper. Investigations with a centrifugal concentrator were carried out using samples, which had been treated with different impact devices. Partly the impacts of single devices were visible in outlines, but mostly the surfaces of the metals were still covered with mineral residues. To generate copper rich fractions, parameters of the separation process should ensure mass yields <2%, best between 0.5 and 1%. The density of the concentrates is then generally >3.2 g/cm³. Best results were achieved with material from a special treatment train which is adapted to grain sizes <2 mm. Reliable copper contents between 20 and 40% (single runs >50%) could be realised. However, considering the required mass yields, referred to this subset only 150–170 g copper would be recovered from 1 Mg MSWI BA. Furthermore, this copper is only in parts present in elemental form. A dependable added value of such treatment step seems to be given only, if that enables a recycling of the mineral aggregates (tailings) in parallel to avoid landfill costs.     

Removal of radionuclides at a waterworks

A waterworks with an average production rate of 1.3 m3 s(-1), providing several large cities in the province of Scania with drinking water has been studied regarding its capacity to remove several natural and anthropogenic radionuclides. The raw water is surface water from lake Bolmen which is transported through an 80 km long tunnel in the bedrock before it enters the waterworks. The method used for purification is a combination of coagulation-flocculation and filtration in sand filters. Two different purification lines are currently in use, one using Al2(SO4)3 as a coagulant and one using FeCl3. After coagulation and flocculation the precipitate is removed and the water is passed through two different sand filters (rapid filtration and slow filtration). Water samples were collected at the lake, the inlet to the waterworks, after each of the flocculation basins (Al2(SO4)3 and FeCl3), after rapid filtration and from the municipal distribution network. The samples were analysed with respect to their content of uranium, thorium, polonium, radium, plutonium and caesium. The results show a high removal capacity for uranium (about 85%), thorium (>90%), plutonium (>95%) and polonium (>90% in the coagulation-flocculation process) while caesium, strontium and radium pass through the purification process with almost unchanged activity concentrations. During transportation of the water in the tunnel it was also observed that infiltration of groundwater leads to a change in isotopic ratios and/or activity concentrations for the naturally occurring radionuclides and plutonium.     

129I/127I, 129I/137Cs and 129I/99Tc in the Norwegian coastal current from 1980 to 1998

Discharges of the nuclides 129I, 137Cs and 99Tc from the nuclear reprocessing facilities at Sellafield (UK) and La Hague (France) are very useful as oceanic tracers. On the basis of 129I/127I, 137Cs and 99Tc measurements in archived seaweeds, the ratios of 129I/127I, 129I/137Cs and 129I/99Tc have been estimated in seawater at two locations (Utsira and Kiberg) in the Norwegian Coastal Current from 1980 to 1998. These ratios, which vary up to two orders of magnitude over this period, are potentially very interesting for determining "transit times" in the Arctic and North Atlantic oceans. While the long-term trends in these ratios are quite clear, measurements in monthly and bimonthly samples show considerable structure. Further studies are required to determine the exact origin of this structure, which may be a limiting factor in the time resolution that can be obtained with these parameters.     

Transport of plutonium in surface and sub-surface waters from the Arctic shelf to the North Pole via the Lomonosov Ridge

New data on the levels and long-range transport of plutonium in the Arctic Ocean, recorded in the course of two expeditions to this zone in 1994 and 1996, are discussed in this paper. Specifically, approximately 100 plutonium measurements in surface and sub-surface water sampled at 58 separate stations throughout the Kara, Laptev and East Siberian Seas, as well as along latitudinal transects across the Lomonosov Ridge, are reported and interpreted in terms of the circulation pathways responsible for the transport of this element from the North Atlantic to the Arctic Shelf and into the Arctic interior. In addition, the behaviour of plutonium in its transit through the vast Arctic shelf seas to open waters under extreme environmental conditions is discussed in terms of the partitioning of plutonium between filtered (<0.45 microm) seawater and suspended particulate, and its association with colloidal matter. Finally, limited evidence of the presence of a colloidal plutonium component in Arctic waters subject to direct riverine input is adduced.     

Long-term study of 99Tc in the marine environment on the Swedish west coast

The activity concentration of (99)Tc in brown seaweed (Fucus vesiculosus and Fucus serratus) and seawater were analysed in samples collected in 1991, 1995 and 2001 at several stations along the Swedish west coast. In addition to these locations, a well-defined site (S?rdal, 56.76 degrees N, 12.63 degrees E) was included with (99)Tc activity concentration data in seaweed from 1967 to 2000. Over the years, the major source of (99)Tc in the coastal waters of western Sweden has been the radioactive liquid discharge from the nuclear fuel reprocessing plant in Sellafield (UK) transported via ocean currents in the North Sea. The (99)Tc activity concentration in seaweed at the S?rdal site increased from approximately 30 Bq kg(-1) up to 230 Bq kg(-1) (dry weight) between 1997 and 2000 due to the Sellafield EARP (Enhanced Actinide Removal Plant) discharges in 1995-1996, yielding an approximate transport time of 4-5 years between the Irish Sea and the Kattegat. Due to the very sharp gradient in (99)Tc concentration between the Baltic Sea and the North Sea, (99)Tc is presently one of the best transit tracers for the recent ventilation events in the Baltic Sea.     

Environmental regulation of trades by fixed standards: The Danish experience

Summary In 1986, the Danish Environmental Protection Agency established a new regulatory system aimed at small-scale polluting activities. Contrary to the dominant regulatory system based on individual standards for each polluting activity, the new regulatory system established uniform and fixed environmental standards for all activities within a trade. The fixed standards concern location, design and daily operation. Thus far, the new regulatory system has been implemented in the trades of fur farms and auto-repair shops.This study shows that fixed environmental standards reduce the total administrative costs, intensify local monitoring and enforcement of the standards, and improve the environmental state. It is proposed that the following criteria should be considered if the regulatory system is to be implemented in other trades. The trade should consist of many units and be characterised by a moderate pace of technological development, it should posses well-defined and well-known environmental problems, and have a cooperative trade association. In Denmark several trades have been identified as obvious objects for future regulation by fixed environmental standards.Bente Kjærgård is a Research Associate in the Department of Environment, Technology and Social Studies at Roskilde University. Correspondence should be addressed to this author. The other authors are Associate Professors in the same Department. Each author possesses a research degree as follows: Per Homann Jespersen in Chemical Engineering, Henning Schroll in Biology, Jesper Holm in Technological Planning, and Bente Kjærgård in Environmental Planning.     

Test of firefighter's turnout gear in hot and humid air exposure.

Five students of a rescue training school cycled at 50 W for 20 min at 20 degrees C before walking at 5 km/hr up to 30 min in a climatic chamber at 55 degrees C and 30% relative humidity. 4 different types of clothing ensembles differing in terms of thickness and thermal insulation value were tested on separate days. All subjects completed 28-30 min in light clothing, but quit after 20-27 min in 3 firefighter ensembles due to a rectal temperature of 39.0 degrees C or subjective fatigue. No difference in the evolution of mean skin or rectal temperature was seen for the 3 turnout ensembles. Sweat production amounted to about 1000 g in the turnout gears of which less than 20% evaporated. It was concluded that the small differences between the turnout gears in terms of design, thickness and insulation value had no effect on the resulting heat physiological strain for the given experimental conditions.