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.     

Modelling the Choice Between Multiple-Use vs. Specialised Forest Management and its Impact on Forest Management Costs

Forests provide ecosystem services, including timber production. In some cases, private forest owners perform management actions in order to enhance the provision of such services, or they may be encouraged by public policies and payments. This paper focuses specifically on the decision to set forest land aside for biodiversity conservation, as part of the more general question of the efficiency of multiple-use vs. specialised management of forest lands. We propose an econometric analysis to identify factors in the set-aside choice and measure the impact of this decision on forest management costs. The results show that the set-aside choice depends on the landowners’ income and motivations related to forest amenities. The choice of specialised management, as reflected in the set-aside decision, has a significant and positive impact on the intensity of management in the remainder of the forest and on management costs. From a policy implications point of view, these results suggest that instruments such as forest certification, subsidies and reverse auctions for conservation will be most likely to attract the interest of those forest owners with personal motivations and forest properties that offer both benefit and cost advantages in opting for such specialised management strategies.

     

On the stock–recruitment relationships in fish population models

The framework of this article is modeling applied to fisheries. It aims at relating some classical stock–recruitment curves to a dynamic structured model, consisting of the adults stages of the stock and a pre-recruits stage (i.e., eggs, larvae, juveniles). The main result is that no functional stock–recruitment relationship can be found, unless further restrictive assumptions are added to the model (slow–fast dynamics and uniformity). Among the curves thus obtained is the Beverton–Holt curve, but not Ricker's.     

Recent Recovery of Lake Water Quality in Southern Québec Following Reductions in Sulfur Emissions

Since 1985, monitoring activities have been conducted in a networkof 43 lakes comprising the Québec portion of the Long-Range Transport of Airborne Pollutants (LRTAP) program. The results to date indicate that Québec lakes generally are responding positively to the generalized decline in precipitation sulfate (SO₄ ^2-), with 40 of the 43 lakes now showing steep declines in SO₄ ^2- concentrations. The drop in SO₄ ^2- was associated with a significant decrease in Ca²⁺ concentrations in 77% of the lakes (67% for Mg²⁺ concentrations). Overall, the acid-neutralizing capacity was increasing in 19 lakes and decreasing only in three, while 21 lakes showed no temporal trends. Compared with previous trend studies of the LRTAP-Québec network for the period of 1985–1993, the longer period (1985–1999) shows a clear improvement, with the proportion of lakes that were acidifying changing from 24 to 7% and with the proportion of lakes that were recovering changing from 16 to 35%. These observations suggest that the recent drop in SO₄ ^2- deposition in the northeastern U.S. and eastern Canada was significant enough to allow chemical recovery for a significant proportion of Québec lakes.     

Assessment of contamination and biomarker responses in two species of herons on the St. Lawrence river

This study was undertaken to validate potential biomarkers of exposure and effects due to chemical contaminants in breedingcolonies of the Great Blue Heron and the Black-crowned Night-Heron on the St. Lawrence River. Eggs and fledglings from both species were collected from many colonies along theRiver. The fledglings from colonies in freshwater and brackishwater were more contaminated by mercury and PCBs than those from estuarine and gulf colonies. With respect to fledglings ofthe two heron species, some morphometric and blood biochemicalmeasurements, including plasma thyroid hormones and retinol, were significantly different among colonies. Significant differences were also observed in liver retinoids, EROD and porphyrins among colonies. The results of this study suggestthat plasma retinoids and thyroid hormones are good biomarkersof exposure and effects, and are sufficiently sensitive to reflect local and regional variations in contamination. Along with the measure of contaminants in egg and plasma, they constitute non-invasive biomarkers which represent an importantcriteria for long term monitoring of wildlife species. It is concluded that the Great Blue Heron is an appropriate sentinelspecies in the surveillance network for the St. Lawrence River.     

South Africa's arid and semiarid rangelands: Why are they changing and can they be restored?

Since the mid-19th century settled livestock ranching has been the major form of land use in South Africa, occupying 68% of the land surface. Decreases in livestock densities and ranch numbers during the past century imply that carrying capacities for domestic herbivores are falling. Differences in carbon isotope signals with soil depth and abrupt shifts in dominant plant species across ranch boundaries reveal that southern African rangelands are changing. Case studies suggest ways to control altered grassland composition, bush encroachment in arid savanna, and dominance by toxic and halophytic shrubs in arid shrublands. But climatic and biological factors constrain rates of passive recovery, and guidelines for active restoration are poor and techniques costly. Moreover, conservation of remaining good rangeland is seldom enforced, and economic considerations usually outweight the land user's desire to sustain diversity and productivity.