Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Objective

The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.

Methods

In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the sonographic detection of fetal congenital anomalies. The most common identified congenital anomalies were skeletal dysplasia (n = 20), multiple major fetal congenital anomalies (n = 17) and intracerebral structural anomalies (n = 7).

Results

A conclusive diagnosis was identified in 18 of the 54 cases (33%). Pathogenic variants were detected most often in fetuses with skeletal dysplasia (n = 11) followed by fetuses with multiple major fetal congenital anomalies (n = 4) and intracerebral structural anomalies (n = 3). A survey, completed by the physicians for 37 of 54 cases, indicated that the rWES results impacted clinical decision making in 68% of cases.

Conclusions

These results suggest that rWES improves prenatal diagnosis of fetuses with congenital anomalies, and has an important impact on prenatal and peripartum parental and clinical decision making.     

Ensemble Modeling of the Baltic Sea Ecosystem to Provide Scenarios for Management

We present a multi-model ensemble study for the Baltic Sea, and investigate the combined impact of changing climate, external nutrient supply, and fisheries on the marine ecosystem. The applied regional climate system model contains state-of-the-art component models for the atmosphere, sea ice, ocean, land surface, terrestrial and marine biogeochemistry, and marine food-web. Time-dependent scenario simulations for the period 1960–2100 are performed and uncertainties of future projections are estimated. In addition, reconstructions since 1850 are carried out to evaluate the models sensitivity to external stressors on long time scales. Information from scenario simulations are used to support decision-makers and stakeholders and to raise awareness of climate change, environmental problems, and possible abatement strategies among the general public using geovisualization. It is concluded that the study results are relevant for the Baltic Sea Action Plan of the Helsinki Commission.     

Irrigation canals as tools for climate change adaptation and fish biodiversity management in Southern France

This paper is based on the interdisciplinary research conducted in the south of France that analyses the different economic, social and environmental roles played by agricultural irrigation canals. We argue that beyond their productive role, which is to supply farmers with water, they fulfil other environmental services and play an important role in the context of future climate change to face challenges of adaptation. We point up several ecosystem services provided by such canals, e.g. replenishing the groundwater table, the development of riparian vegetation and wet areas in the Mediterranean zone, tools for regulating flooding and drought, the bases for new cultural approaches to nature. Moreover, they play an important role in the maintenance of an ichthyological biodiversity that is indispensable for the persistence of natural ecosystem. Functioning as an ecological corridor, they display interesting capacities as refuges for certain fish species under stress. Indeed, they can potentially connect upstream and downstream zones over a continuum of more than 300 km and thus covering very contrasted climatic zones (alpine versus Mediterranean). For now, most of these services remain largely unknown and underestimated. However, they serve as assets for territorial development since they combine economic, ecological and social factors whose remodelling is becoming increasingly necessary in the face of climate change.     

Far-side occupant kinematics in low speed lateral sled

OBJECTIVE: The objective of this study was to evaluate the far-side occupant kinematics in low-speed lateral pulses with and without a seatbelt system. METHODS: The kinematics responses of three volunteers and a Hybrid III were compared in three low-to-moderate lateral pulses. The parameters evaluated were pulses and belt usage. A total of 24 tests were carried out in a side-impact sled. The subjects consisted of two 50th-percentile males (Vol 1 & 2), one 5th-percentile female (Vol 3), and a Hybrid III 50th-percentile male (ATD). All subjects were seated in a far-side impact. Three low speed pulses were used: Pulse 1: a 4 g at 6 km/h, Pulse 2: 4 g/8 kph followed by a -2.5 g pulse to simulate a low curb impact, and Pulse 3: a 4 g's pulse at 10 km/h. In addition, the kinematics result from Pulse 2 was used to assess the performance of a human model. The human model was developed by TNO. RESULTS: For all three pulses, the peak head lateral displacement was greater with the 5th female (Vol 3) than the male volunteers. The ATD results in the 6 and 10 km/h pulses were comparable to the volunteers. However, in Pulse 2, the ATD motion was higher than the volunteers. CONCLUSION: The results obtained in this study suggest the Hybrid III is a somewhat conservative device for an evaluation of occupant kinematics in low-speed lateral pulses. The human model also seemed to be representative of volunteer kinematics.     

A comparison of volunteers and dummy upper torso kinematics with and without shoulder belt slack in a low speed side/pre-roll environment

OBJECTIVE: The objective of this study was to compare the occupant and dummy kinematics in a low-speed lateral environment with and without shoulder belt slack. METHODS: A buck of a small European car was mounted on a side impact sled. The parameters evaluated were pulses, sitting location, and belt slack. A total of 24 tests were carried out. Three 50th-percentile male volunteers and one Hybrid III 50th-percentile male were tested. The pulses consisted of Pulse 1:+/- 0.7 g's pulse and Pulse 2: a -0.9 g pulse to simulate low-speed pre-roll/side events. Both pulses had a duration of 500 msec. RESULTS: The peak lateral head excursion was higher in the far-side occupants than in the near-side occupants. Furthermore, for the far-side volunteers, lateral head displacements were lower in the no-slack condition than in the slack condition, at 388 +/- 64 mm and 455 +/- 84 mm respectively for Pulse 1 and at 138 +/- 2 mm and 207 +/- 70 mm for Pulse 2. The timing required to reach peak lateral displacement was higher in Pulse 1 than in Pulse 2. In comparison to the volunteers, the Hybrid III dummy lateral motion was lower. The peak lateral displacement in Pulse 1 was 231 mm with slack and 194 mm without and 98 mm and 107 mm for Pulse 2, respectively. CONCLUSIONS: The results obtained in this study indicate that removing seatbelt slack would be more beneficial for far-sided occupants than near-sided. They also point to the lack of biofidelity of the Hybrid III dummy in low g lateral pulses.     

Experimental design of the Svalbard shoreline field trials

Experimental oil spills on three mixed-sediment beaches in Svalbard, Norway, were designed to evaluate the effectiveness of in situ shoreline cleaning treatments to accelerate natural recovery. These were: sediment relocation (surf washing), mixing (tilling), bioremediation (fertilizer application), and bioremediation combined with mixing. Additionally, natural attenuation was studied as a treatment option. An intermediate fuel oil was applied to the sediment surface in the upper intertidal zone at three experimental sites, each of which had different sediment characteristics and wave-energy exposure. Over a 400-day period, the experiments quantified oil removal, documented changes in the physical character of the beach as well as oil fate and behaviour, assessed toxicity effects associated with treatment, and validated oil-mineral aggregate formation as a result of the selected treatment techniques. The three sites were chosen based on significant differences, and each treatment was quantitatively compared only with other treatments at that site.This paper describes the physical location and the experimental design of the field trials. Some of the key issues that were addressed in the design included: the methodology for application of oil, the application of treatment techniques, the realistic simulation of real-world conditions, and the sampling protocols to overcome sediment and oiling heterogeneity typical of mixed-sediment beaches in order to allow quantitative comparisons of the treatments.