Bioethics, Disability, and Selective Reproductive Technology

2018 ◽  
pp. 729-743
Author(s):  
Christian Munthe
Keyword(s):  
Prenatal Screening ◽  
Reproductive Technology ◽  
Structural Factors ◽  
Disabled People ◽  
Screening Programs ◽  
Identity Studies ◽  
Disability Theory ◽  
Disability Identity ◽  
Identity Based ◽  
Publicly Supported

This chapter explores disability-based criticism against what is here called selective reproductive technology (SRT) such as prenatal screening programs in light of recent calls for disability theory, as well as political activism based on that, to accommodate for an intersectional turn across all types of critical social identity studies (class, disability, gender, LGBT, queer, race, etc.). Applying intersectionality to the disability SRT critique generates complex and provoking implications, not invalidating it but radically transforming its shape and direction. Most notably, it inserts a wedge between the identity-based experience that SRT unjustly discriminates and oppresses disabled people and the identity political call for SRT programs to be shut down or at least not publicly supported. Intersectionality steers the justification toward politically addressing structural factors explaining injustice independently of identity-based experience, and SRT programs may have to be allowed for such action to be sustainable also from a disability identity standpoint.

scholarly journals Comparison between Enzyme Immunoassays Performed on Samples of Dried Blood and Serum for Toxoplasmosis Prenatal Screening: Population-based Study

2021 ◽  
Vol 43 (05) ◽  
pp. 351-356
Author(s):  
Bárbara Araújo Marques ◽  
Ericka Vianna Machado Carellos ◽  
Vânia Maria Novato Silva ◽  
Fernando Henrique Pereira ◽  
Maria Regina Lage Guerra ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Prenatal Screening ◽  
Dried Blood Spots ◽  
Population Based ◽  
Minas Gerais ◽  
Immunoglobulin M ◽  
Screening Tests ◽  
Reference Test ◽  
Screening Programs ◽  
Blood Spots

Abstract Objective Most prenatal screening programs for toxoplasmosis use immunoassays in serum samples of pregnant women. Few studies assess the accuracy of screening tests in dried blood spots, which are of easy collection, storage, and transportation. The goals of the present study are to determine the performance and evaluate the agreement between an immunoassay of dried blood spots and a reference test in the serum of pregnant women from a population-based prenatal screening program for toxoplasmosis in Brazil. Methods A cross-sectional study was performed to compare the immunoassays Imunoscreen Toxoplasmose IgM and Imunoscreen Toxoplasmose IgG (Mbiolog Diagnósticos, Ltda., Contagem, Minas Gerais, Brazil)in dried blood spots with the enzyme-linked fluorescent assay (ELFA, BioMérieux S.A., Lyon, France) reference standard in the serum of pregnant women from Minas Gerais Congenital Toxoplasmosis Control Program. Results The dried blood spot test was able to discriminate positive and negative results of pregnant women when compared with the reference test, with an accuracy of 98.2% for immunoglobulin G (IgG), and of 95.8% for immunoglobulin M (IgM). Conclusion Dried blood samples are easy to collect, store, and transport, and they have a good performance, making this a promising method for prenatal toxoplasmosis screening programs in countries with continental dimensions, limited resources, and a high prevalence of toxoplasmosis, as is the case of Brazil.

scholarly journals Examining the role of governmsent in shaping disability inclusiveness around COVID-19: a framework analysis of Australian guidelines

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
David Colon-Cabrera ◽  
Shivika Sharma ◽  
Narelle Warren ◽  
Dikaios Sakellariou
Keyword(s):  
Federal Government ◽  
Disability Services ◽  
Federal State ◽  
Structural Factors ◽  
Australian Government ◽  
Disabled People ◽  
Framework Analysis ◽  
Unemployed People ◽  
Guidance Documents

Abstract Background The COVID-19 pandemic has uncovered the ways in which disabled people are made more vulnerable due to structural inequalities. These vulnerabilities are the result of the interaction between individual and structural factors that shape how risk is experienced by disabled people. In Australia, these vulnerabilities are influenced by the way disability services and care for disabled people are delivered through a consumer-directed approach. We analysed the policies and documentation made by the Australian Government and state and territory governments during the pandemic to explore whether these were disability-inclusive. We aimed to unpack how these policies shaped disabled people as vulnerable citizens. Methods Guided by documentary research, we used framework analysis to examine the policies of the Australian Government and state and territory governments. We analysed legislation that was given royal assent by the federal, state and territory governments, and documents (reports, fact sheets, guidance documents, etc.) published by the federal government and the state of Victoria (given that this state experienced the brunt of the epidemic in Australia) between February 2020 to August of 2020. Results We found that most of the resources were not aimed at disabled people, but at carers and workers within disability services. In addition, most policies formulated by the Australian Government were related to the expansion of welfare services and the creation of economic stimulus schemes. However, while the stimulus included unemployed people, the expansion of benefits explicitly excluded disabled people who were not employed. Most of the legislation and documents offered accessibility options, though most of these options were only available in English. Disability oriented agencies offered more extensive accessibility options. Conclusions The findings indicate a large number of documents addressing the needs of disabled people. However, disability-inclusiveness appeared to be inconsistent and not fully considered, leaving disabled people exposed to greater risk of COVID-19. Neoliberal policies in the health and welfare sector in Australia have led to an individualisation of the responsibility to remain healthy and a reliance on people as independent consumers. Governments need to take a clear stance towards the emergence of such a discourse that actively disvalues disabled people.

Disability Self-Identification and Well-Being in Emerging Adults

2019 ◽  
Vol 8 (4) ◽  
pp. 306-316
Author(s):  
Holly McCartney Chalk ◽  
Christopher P. Barlett ◽  
Natalie D. Barlett
Keyword(s):  
Life Satisfaction ◽  
Emerging Adults ◽  
Support Services ◽  
Structural Model ◽  
Psychosocial Outcomes ◽  
Well Being ◽  
Psychiatric Disabilities ◽  
Positive View ◽  
Disability Identity ◽  
Identity Based

Research suggests that emerging adults (EAs) with a disabling impairment experience poor psychosocial outcomes and delayed markers of adulthood. Given the numbers of EA with a disabling impairment who do not self-identify as having a disability, we examine a multigroup structural model of positive disability identity based on disability self-identification. Participants ( n = 2,016) completed assessments of positive disability identity, psychosocial outcomes, and markers of adulthood. Most participants with a disabling impairment did not self-identify as having a disability (68%). Positive disability identity, maintaining a positive view of disability, was associated with increased life satisfaction, regardless of whether EA self-identify as having a disability. Exploratory analyses suggest that EA with psychiatric disabilities experience the most negative psychosocial outcomes. Findings suggest that maintaining a positive view of disability is associated with favorable outcomes. However, intervention with EA who do not self-identify is challenging, as they may not seek support services.

Current relevance of non-invasive prenatal study of cell-free fetal DNA in the mother’s blood and prospects for its application in mass screening of pregnant women in the Russian Federation

2021 ◽  
Vol 70 (1) ◽  
pp. 19-50
Author(s):  
Elena A. Kalashnikova ◽  
Andrey S. Glotov ◽  
Elena N. Andreyeva ◽  
Ilya Yu. Barkov ◽  
Galina Yu. Bobrovnik ◽  
...  
Keyword(s):  
Mass Screening ◽  
Russian Federation ◽  
Prenatal Screening ◽  
First Trimester ◽  
Screening Programs ◽  
Non Invasive ◽  
Fetal Dna ◽  
Prenatal Diagnostic ◽  
Cell Free Fetal Dna ◽  
The Russian Federation

This review article offers an analysis of application of cell-free fetal DNA non-invasive prenatal screening test for chromosome abnormalities in the mothers blood in different countries. The diagnostic capacities of the method, its limitations, execution models and ethical aspects pertinent to its application are discussed. The data for the discordant results is shown and analyzed. The advantages of the genome-wide variant of cell-free fetal DNA analysis and the problems concerning its application in the mass screening are described. The main suggestion is to implement the contingent cell-free fetal DNA testing model for the common trisomies (for the chromosomes 21, 18 and 13) into the prenatal diagnostic screening programs in the Russian Federation. This novel model is based on the results of the mass combined first trimester prenatal screening in four federal subjects of the country completed by 2019 and is offered as an additional screening in the mid-level risk group (with cut-off from 1 : 100 to 1 : 500 or from 1 : 100 to 1 : 1000) defined according to the first trimester prenatal screening results. The basic requirements for the implementation of the contingent model in the Russian Federation are stated.

scholarly journals Disability

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Sam Murray ◽  
Roger Loveless
Keyword(s):  
Living Standards ◽  
Development Model ◽  
Structural Factors ◽  
Publicly Funded ◽  
Structural Barriers ◽  
Disability And Health ◽  
Disabled People ◽  
Government Decision ◽  
Wide Range ◽  
Disability Support

Disabled people and their whänau have poorer outcomes across a wide range of wellbeing and living standards measures.1 Yet disability analysis does not appear to be well integrated into government decision making on wellbeing. This article builds a framework for understanding disability in a wellbeing context by using the Treasury’s Living Standards Framework and Sophie Mitra’s human development model for disability and health. One of the most important aspects of Mitra’s model is the interaction between resources and structural factors. Structural factors, such as an inaccessible built environment, force disabled people to spend more resources to get the same outcomes as nondisabled people. Publicly funded disability support is essential to counteract these structural factors. We also need to improve the usability of the four capitals for disabled people and their whänau to reduce these structural barriers.

scholarly journals Integrating structure-based machine learning and co-evolution to investigate specificity in plant sesquiterpene synthases

2021 ◽  
Vol 17 (3) ◽  
pp. e1008197
Author(s):  
Janani Durairaj ◽  
Elena Melillo ◽  
Harro J. Bouwmeester ◽  
Jules Beekwilder ◽  
Dick de Ridder ◽  
...  
Keyword(s):  
Machine Learning ◽  
Plant Species ◽  
Reaction Pathway ◽  
Sequence Similarity ◽  
Evolutionary Analysis ◽  
Structural Factors ◽  
Structure Information ◽  
Machine Learning Approach ◽  
Identity Based ◽  
Diverse Plant Species

Sesquiterpene synthases (STSs) catalyze the formation of a large class of plant volatiles called sesquiterpenes. While thousands of putative STS sequences from diverse plant species are available, only a small number of them have been functionally characterized. Sequence identity-based screening for desired enzymes, often used in biotechnological applications, is difficult to apply here as STS sequence similarity is strongly affected by species. This calls for more sophisticated computational methods for functionality prediction. We investigate the specificity of precursor cation formation in these elusive enzymes. By inspecting multi-product STSs, we demonstrate that STSs have a strong selectivity towards one precursor cation. We use a machine learning approach combining sequence and structure information to accurately predict precursor cation specificity for STSs across all plant species. We combine this with a co-evolutionary analysis on the wealth of uncharacterized putative STS sequences, to pinpoint residues and distant functional contacts influencing cation formation and reaction pathway selection. These structural factors can be used to predict and engineer enzymes with specific functions, as we demonstrate by predicting and characterizing two novel STSs from Citrus bergamia.

scholarly journals Stimulating Informed Decisions in Prenatal Screening: Exploring Initiatives to Aid Parental Decision-Making

2019 ◽  
Vol 3 (1) ◽  
pp. 19-69
Author(s):  
Zoë Claesen ◽  
Laura Barilla ◽  
Charlot Diepvens ◽  
Eva Mensink ◽  
Job Meijer ◽  
...  
Keyword(s):  
Health Professionals ◽  
Decision Aid ◽  
Prenatal Screening ◽  
Prenatal Testing ◽  
Round Table Discussion ◽  
Screening Programs ◽  
Parental Decision Making ◽  
General Plan ◽  
Informed Decisions ◽  
Starting Point

Abstract Informed decisions concerning non-invasive prenatal testing (NIPT) seem contingent on health professionals and expectant parents (1) having access to multifaceted information about the procedure of NIPT and the subsequent choices; and (2) actively reflecting about what prenatal screening means beyond the medical level (including personal values and beliefs). International studies show that many pregnant women do not make informed decisions about prenatal testing (Beulen et al. 2016). Interviews we conducted with various stakeholders in Belgium show similar tendencies.Based on transdisciplinary research (Dehens et al. 2017)—which included stakeholder interviews, and a review of academic literature, current prenatal screening guidelines, and good practices—we propose three initiatives that can help stimulate informed choices. The initiatives are: (1) a decision aid that encourages expectant parents to think about NIPT, its possible outcomes, and the conditions NIPT screens for (see e.g. Smith et al. 2018; Carslon et al. 2019); (2) the creation of a nation-wide protocol (draaiboek) for prenatal screening outlining what information should be provided at what point during a pregnancy, in what way, and by whom (see for instance the Draaiboek Prenatale screening down-, edwards- en patausyndroom en structureel echoscopisch onderzoek versie 9.0 in the Netherlands); and (3) an online platform featuring a balanced representation of testimonials about various experiences with the main conditions NIPT screens for taking Braverman (2008) as a starting point. These initiatives were discussed (conceptually) at a round table discussion with a broad range of stakeholders (May 8, 2019). A concluding poll showed <target target-type="page-num" id="p-20"/>a strong consensus concerning the need to develop a prenatal screening protocol and a decision aid in order to help health professionals and expectant parents, navigate through prenatal screening programs in Belgium. Anticipating the widening scope of genetic tests, a general plan of action is necessary to ensure counseling possibilities and informed decisions.

Ethics of routine: a critical analysis of the concept of ‘routinisation’ in prenatal screening

2018 ◽  
Vol 44 (9) ◽  
pp. 626-631 ◽  
Author(s):  
Adriana Kater-Kuipers ◽  
Inez D de Beaufort ◽  
Robert-Jan H Galjaard ◽  
Eline M Bunnik
Keyword(s):  
Prenatal Screening ◽  
Prenatal Testing ◽  
Informed Choice ◽  
First Trimester ◽  
Literature Analysis ◽  
Negative Consequences ◽  
Reproductive Autonomy ◽  
Disabled People ◽  
Ongoing Debate ◽  
Non Invasive

In the debate surrounding the introduction of non-invasive prenatal testing (NIPT) in prenatal screening programmes, the concept of routinisation is often used to refer to concerns and potential negative consequences of the test. A literature analysis shows that routinisation has many different meanings, which can be distinguished in three major versions of the concept. Each of these versions comprises several inter-related fears and concerns regarding prenatal screening and particularly regarding NIPT in three areas: (1) informed choice, (2) freedom to choose and (3) consequences for people with a disability. Three of the strongest arguments raised under the flag of routinisation are assessed for their validity: the threat that NIPT poses to informed choice, the potential increase in uptake of first-trimester prenatal screening and its consequences for social pressure to participate in screening or terminate affected pregnancies, and the negative consequences for disabled people. These routinisation arguments lack empirical or normative ground. However, the results of this analysis do not imply that no attention should be paid to possible problems surrounding the introduction of NIPT. At least two problems remain and should be addressed: there should be an ongoing debate about the requirements of informed choice, particularly related to an expanded scope of prenatal screening. Also, reproductive autonomy can only be achieved when expecting parents’ options are variegated, real and valuable, so that they can continue to choose whether or not to screen or to terminate a pregnancy.

scholarly journals Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Mohammad Reza Mahdavi ◽  
Hosein Karami ◽  
Mohammad Taghi Akbari ◽  
Hosein Jalali ◽  
Payam Roshan
Keyword(s):  
Prenatal Screening ◽  
Married Couple ◽  
Globin Gene ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Common Mutation ◽  
Screening Programs ◽  
Rare Mutations ◽  
Hereditary Disorders ◽  
Screening And Diagnosis

Background. Beta thalassemia is one of the most common hereditary disorders worldwide. In Iran, it is frequently reported from northern and southern provinces. In order to prevent child birth to be affected by this complication, prenatal screening and diagnosis are carried out nationwide. However, in some instances, this program is unable to identify rare mutations leading to thalassemia.Case Presentation. A married couple, who took part in prenatal screening and diagnosis, gave birth to a child who is affected by thalassemia major. After several molecular examinations, a rare mutation [+22 5UTR (G>A)] in compound heterozygote state along with a common mutation [codon 8 (-AA)] was found.Conclusion. This case study suggests that more advanced molecular evaluations must be integrated in prenatal screening programs to identify rare mutations and antenatal diagnosis of thalassemia cases.

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