Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to determine reproductive risk. Data on the clinical utility of screening conditions beyond professional guidelines are scarce. Individuals underwent ECS for up to 110 genes. Five-hundred thirty-seven at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to participate in a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results. Sixty-four eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (n = 28) planned IVF with PGD or prenatal diagnosis (PNDx) in future pregnancies. Twenty-nine percent (n = 13) were not planning to alter reproductive decisions. The remaining 9% (n = 4) of responses were unclear. Of 19 pregnant respondents, 42% (n = 8) elected PNDx, 11% (n = 2) planned amniocentesis but miscarried, and 47% (n = 9) considered the condition insufficiently severe to warrant invasive testing. Of the 8 pregnancies that underwent PNDx, 5 were unaffected and 3 were affected. Two of 3 affected pregnancies were terminated. Disease severity was found to have significant association (p = 0.000145) with changes in decision making, whereas guideline status of diseases, controlled for severity, was not (p = 0.284). Most ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making. 相似文献
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Background and Objectives: Chronically stressed individuals report deficits spanning cognitive and emotional functioning. However, limitations to clinical populations and measures of stress have impeded the generalisability and scope of results. This study investigated whether chronic stress predicted cognitive and emotional functioning, and whether these relationships differed between males and females, in a large representative sample of healthy participants.
Design: Cross-sectional study.
Method: 1883 healthy adults sampled from the Brain Resource International Database reported stress using the 21-item Depression Anxiety Stress Scales. Participants then completed a cognitive and emotional assessment battery (IntegNeuro), as well as questionnaires related to sleep, emotional functioning, and self-regulation.
Results: In contrast to previously reported results, chronic stress did not predict cognitive functioning. However, higher stress predicted a greater negativity bias and poorer social skills, confirming previous research identifying these links.
Conclusions: Cognitive deficits related to stress are absent in healthy participants when stress is measured using the 21-items Depression Anxiety Stress Scales. Identifying how chronic stress is associated with aspects of emotional functioning can lead to personalized interventions for individuals to better manage the negative outcomes resulting from stress. 相似文献
Despite the prominent role that technology plays in twenty-first-century societies, the intersections between spirituality and technology have been poorly analyzed. This article develops a cross-reflection between these two key anthropological aspects, using a philosophical approach that structures the analysis along three classical categories: transcendence, immanence, and relationality. Drawing from ideas of philosophers, such as Heidegger and Merleau-Ponty, the article sheds light on problematic aspects of technology that spirituality helps identify and for which it suggests solutions. Symmetrically, the analysis shows commonly inadvertent aspects of spirituality that technology brings to the fore. All in all, spirituality appears as an essential dimension to cultivate in technological societies, while technology might reveal spirituality as richer and deeper than has been apparent in traditional settings. 相似文献