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.     

Effects of stewardship on protected area effectiveness for coastal birds

Evaluation of protected area effectiveness is critical for conservation of biodiversity. Protected areas that prioritize biodiversity conservation are, optimally, located and managed in ways that support relatively large and stable or increasing wildlife populations. Yet evaluating conservation efficacy remains a challenging endeavor. We used an extensive community science data set, eBird, to evaluate the efficacy of protected areas for birds across the Gulf of Mexico and Atlantic coasts of the United States. We modeled trends (2007–2018) for 12 vulnerable waterbirds that use coastal areas during breeding or wintering. We compared two types of protected areas—sites where conservation organizations implemented active stewardship or management or both to reduce human disturbance (hereafter stewardship sites) and local, state, federal, and private protected areas managed to maintain natural land cover (hereafter protected areas)—as well as unprotected areas. We evaluated differences in trends between stewardship, protected, and unprotected areas across the Gulf and Atlantic coasts as a whole. Similar to a background sample, stewardship was known to occur at stewardship sites, but unknown at protected and unprotected areas. Four of 12 target species—Black Skimmer (Rynchops niger), Brown Pelican (Pelecanus occidentalis), Least Tern (Sternula antillarum), and Piping Plover (Charadrius melodus)—had more positive trends (two to 34 times greater) at stewardship sites than protected areas. Furthermore, five target species showed more positive trends at sites with stewardship programs than unprotected sites during at least one season, whereas seven species showed more positive trends at protected than unprotected areas. No species had more negative trends at stewardship sites than unprotected areas, and two species had more negative trends at protected than unprotected areas. Anthropogenic disturbance is a serious threat to coastal birds, and our findings demonstrate that stewardship to reduce its negative impacts helps ensure conservation of vulnerable waterbirds.     

Risk management is not enough: a conceptual model for resilience and adaptation-based vulnerability assessments

The US government has focused considerable attention on enhancing our society’s ability to protect critical systems and services from disruptive events. Over the past decade, federal agencies have bolstered their efforts to identify and minimize threats using traditional risk-based approaches such as continuity of operations and disaster risk reduction processes. However, these valuable risk identification and management tools are limited because they rely upon foreseeable factor analyses of steady-state systems with predictable hazard frequencies and severities. In assessing the capability of complex adaptive systems to cope with disruptions, an overemphasis upon engineering resilience through risk management and planning for what is predictable may cloud or detract from our efforts to better understand a system’s emergent capabilities to withstand disruptions that are unforeseeable. This article contends that augmenting traditional risk approaches through the incorporation of methodologies grounded in socio-ecological system (SES) resilience principles offers a potential avenue for improving our agencies’ abilities to assess and manage both known and unknown risks. We offer a notional rationale for broadening our examination of system vulnerabilities and present a conceptual model that combines engineering and SES resilience paradigms to facilitate the identification, assessment, and management of system vulnerabilities. The Military Installation Resilience Assessment model described herein applies risk and resilience principles to evaluate whole systems, focusing on interconnections and their functionality in facilitating response and adaptation.     

Contamination in sediments, bivalves and sponges of McMurdo Sound, Antarctica

This study examined the concentrations of total hydrocarbons (THC), polychlorinated biphenyls (PCB), polyaromatic hydrocarbons (PAH), and trace metals (Cu, Zn, Cd, Pb, Hg and As) in marine sediments off Scott Base (NZ) and compared them with sediments near the highly polluted McMurdo Station (US) as well as less impacted sites including Turtle Rock and Cape Evans. The Antarctic mollusc, Laternula elliptica and three common sponge species were also analysed for trace metals. The mean THC concentration in sediments from Scott Base was 3 fold higher than the pristine site, Turtle Rock, but 10 fold lower than samples from McMurdo Station. McMurdo Station sediments also contained the highest concentrations of PAHs, PCBs and the trace metals, Cu, Zn, Pb, Cd and Hg. Copper was significantly higher in bivalves from McMurdo Station than other sites. Trace metal concentrations in sponges were generally consistent within sites but no spatial patterns were apparent.