This article critiques how the chromosomal condition ‘trisomy 21’ (‘T21’) (‘Down syndrome’) was originally conceptualised using colonial, scientific and medical discourses on ‘race’ and ‘idiocy’. Nineteenth century discourses surrounding ‘degeneracy’ commonly intertwined the notions of ‘race’ and ‘idiocy’. In Observations of an Ethnic Classification of Idiots, Down categorises people with T21 as ‘Mongolians’ because of their purported similarities to ethnic ‘Mongolians’. The discourse-historical approach (DHA) to critical discourse analysis (CDA) is used in this article to examine how the ‘Mongolian (...) idiot’ is constructed by Down as the ‘other’, being simultaneously a ‘racial other’, a ‘disabled other’, and an ‘idiotic other’. Down theorises that ethnic ‘Caucasians’ with ‘idiocy’ have ‘retrogressed’ to primitive forms as characterised by the ‘Mongolian family’. His report also essentialises the ‘Mongolian idiot’, defining their ‘degeneracy’ and ‘otherness’ in terms of their physical, behavioural, and mental characteristics. Whilst Down’s ‘mongolism’ has since been refuted, aspects of his report are reproduced in some contemporary medical and scientific discourses. Although these discourses are less essentialist than Down’s, they persist in constructing the ‘otherness’ of T21, by foregrounding its ‘abnormalities’ and ‘disorders’. Significantly, facets of ‘degeneracy’ appear in evolutionary developmental biology, connecting T21 with ‘atavisms’, though without the racial framework. (shrink)

With the new and highly accurate noninvasive prenatal test, new options for screening become available. I contend that the current state of the art of NIPT is already in need of a thorough ethical investigation and that there are different points to consider before any chromosomal or subchromosomal condition is added to the screening panel of a publicly funded screening program. Moreover, the application of certain ethical principles makes the inclusion of some conditions unethical in a privately funded scheme, even (...) if such screening would enhance a woman’s reproductive autonomy. On the one hand, a screening program aimed solely at the detection of Down syndrome is subject to the technological imperative and should be reassessed in the light of technologies that allow for the detection of conditions that are at least as severe. On the other hand, some chromosomal conditions should not be included in any screening programs, because this would violate certain ethical principles, such as the right of the future child to genetic privacy. (shrink)

Cette étude préliminaire avait pour objectif de documenter les besoins d’information des familles ayant un enfant avec une déficience du point de vue des parents et des professionnels de la santé impliqués auprès d’eux. Trois groupes de discussion ont été réalisés: deux auprès de parents d’enfant ayant une trisomie 21 ou une déficience motrice cérébrale et un autre auprès de professionnels de la santé impliqués auprès d’eux. Les résultats montrent que l’information recherchée par les parents concerne le problème de santé, (...) les soins et les ressources disponibles. Les parents consultent entre autres sources les professionnels de la santé, d’autres parents, les médias et l’Internet. L’information obtenue par les parents a un impact sur leur adaptation à la situation de santé et sur leur relation avec les professionnels. Enfin, des recommandations sont proposées par les parents et les professionnels en regard des interventions. (shrink)

Down syndrome (Trisomy 21) is a mild to moderate intellectual disability. Historically, this condition has been a primary target for prenatal testing. However, Down syndrome has not been targeted for prenatal testing because it is an especially severe illness. The condition was just one that could be easily identified prenatally using the techniques first available decades ago. We are moving into an era in which we can prenatally test for a vast range of human traits. I argue that when (...) we can test for anything, there is no longer any reason to continue targeting Down syndrome. I present an argument based on the value of nondiscrimination. It is justified to set limits on access to prenatal information if the information is going to be used for discriminatory purposes. I use the examples of (1) prenatal testing for misogynistic fetal sex selection, and (2) homophobia-motivated prenatal testing for potential homosexuality, as compelling analogies. (shrink)

Non-invasive prenatal testing is at the forefront of prenatal screening. Current uses for NIPT include fetal sex determination and screening for chromosomal disorders such as trisomy 21. However, NIPT may be expanded to many different future applications. There are a potential host of ethical concerns around the expanding use of NIPT, as examined by the recent Nuffield Council report on the topic. It is important to examine what NIPT might be used for before these possibilities become consumer reality. There (...) is limited research exploring views of women on possible future uses of NIPT, particularly those of women who have undergone NIPT. In this study, we examined the views of women who undertook NIPT previously on the acceptability of and interest levels in using NIPT for a number of current and possible future applications. These included several medical conditions encompassing psychiatric, neurodevelopmental and adult-onset conditions as well as non-medical traits such as intelligence. One thousand women were invited to participate and 235 eligible surveys were received. Women generally reported an interest in using NIPT for medical conditions that severely impacted quality of life and with an onset earlier in life and stressed the importance of the accuracy of the test. Concerns were raised about the use of NIPT for non-medical traits. Respondents indicated that termination of pregnancy was not their only reason for testing, particularly in the case of sex. These results can further inform the ethical debate around the increasing integration of NIPT into healthcare systems. (shrink)

On July 2021, the UK High Court of Justice heard the Case CO/2066/2020 on the application of Heidi Crowter who lives with Down’s syndrome, and Máire Lea-Wilson whose son Aidan has Down’s syndrome. Crowter and Lea-Wilson, with the support of the disability rights campaign, ‘Don’t Screen Us Out’, have been taking legal action against the Secretary of State for Health and Social Care (the UK Government) for a review of the 1967 Abortion Act: the removal of section 1(1)(d) making termination (...) of pregnancy lawful for ‘severe’ fetal indications detected after 24 weeks' gestation. On 23 September 2021, the High Court dismissed the claim. This action came at a time when non-invasive prenatal testing (NIPT) was introduced into the NHS England Fetal Anomaly Screening Programme for the trisomies 21, 13 and 18. The implementation of NIPT has been heavily criticised, in particular by ‘Don’t Screen Us Out’ campaigners, for increasing fetal selection and discrimination of people living with disabilities. The case of Crowter and Lea-Wilson echoes debates in other European countries such as in France and Germany, where the introduction of NIPT in the public healthcare system has provoked equally vehement public reactions and discussions. The comparison between these three countries allows contextualising the public discourses around NIPT and the ground for termination of pregnancy in relation to different socio-cultural and political contexts. We examine how each country, and particularly England, deals with the conflict between the principles of promoting the rights of people living with disabilities and preserving women’s reproductive autonomy. (shrink)

Background Potential clinical interventions to mitigate or eliminate symptoms of Down syndrome (DS) continue to be an active area of pre-clinical and clinical research. However, views of members of the DS community have yet to be fully explored.Methods We conducted a survey with parents/caregivers of people with DS (n = 532) to explore interest in potential therapeutic approaches during fetal development or childhood that may improve neurocognition and modulate the DS phenotype. We qualitatively analyzed open-ended responses.Results Some respondents rejected the (...) development of therapies for DS categorically as being fundamentally ableist and promoting the erasure of diverse individuals. Many reflected tensions between the desire to improve quality of life and an aversion to erasure of a child’s personality.Conclusion Findings suggest that views on identity, personality, and disability may influence the acceptance of new interventions, especially if they are thought to mitigate positive attributes of the phenotype or negatively influence social acceptance of people with DS. (shrink)

Background Non-invasive prenatal testing (NIPT), which can screen for aneuploidies such as trisomy 21, is being implemented in several public healthcare systems across Europe. Comprehensive communication and information have been highlighted in the literature as important elements in supporting women’s reproductive decision-making and addressing relevant ethical concerns such as routinisation. Countries such as England and France are adopting broadly similar implementation models, offering NIPT for pregnancies with high aneuploidy probability. However, we do not have a deeper understanding of how (...) professionals’ counselling values and practices may differ between these contexts. Methods In this paper, we explore how professionals in England and France support patient decision-making in the provision of NIPT and critically compare professional practices and values. We draw on data from semi-structured interviews with healthcare professionals. Results Both English and French professionals emphasised values relating to patient choice and consent. However, understandings and application of these values into the practice of NIPT provision differed. English interviewees placed a stronger emphasis on interpreting and describing the process of counselling patients and clinical care through a “principle” lens. Their focus was on non-directiveness, standardisation, and the healthcare professional as “decision-facilitator” for patients. French interviewees described their approach through a “procedural” lens. Their focus was on formal consent, information, and the healthcare professional as “information-giver”. Both English and French professionals indicated that insufficient resources were a key barrier in effectively translating their values into practice. Conclusion Our findings illustrate that supporting patient choice in the provision of NIPT may be held as an important value in common on a surface level, but can be understood and translated into practice in different ways. Our findings can guide further research and beneficially inform practice and policy around NIPT provision. (shrink)

In the intersection between eugenics past and present, disability has never been far beneath the surface. Perceived and ascribed disabilities of body and mind were one of the core sets of eugenics traits that provided the basis for institutionalized and sterilization on eugenic grounds for the first 75 years of the 20th-century. Since that time, the eugenic preoccupation with the character of future generations has seeped into what have become everyday practices in the realm of reproductive choice. As Marsha Saxton (...) (2000) and Adrienne Asch (2000, 2003) have forcefully argued, the use of prenatal screening technologies to facilitate the selective abortion of fetuses with features that signify disabling traits—the paradigm here being trisomy 21 in a fetus indicating Down Syndrome in the child—express a negative view of such disabilities sufficient to warrant terminating an otherwise wanted pregnancy. The eliminative structure of what Rosemary Garland Thompson (2012) has called eugenic logic persists in contemporary practices governing reproductive choice, social inclusion, and democratic participation and their relationship to disability. The tie between eugenics and contemporary disability studies suggests that eugenics and reflection on its history can also play a more positive role in disability politics. After focusing on eugenics in the first half of the paper, we will shift in the second half of the paper to eugenic resonances in contemporary thought and practice, concluding with some thoughts about ongoing practices of silencing and the very idea of eradicating disability. (shrink)

The most well-known goal of non-invasive prenatal testing (NIPT) is still to determine whether or not a fetus has trisomy 21. Since women often terminate the pregnancy upon a positive result, there is concern that the use of NIPT contributes to discrimination against persons with disabilities. If this concern is justified, it could have an impact on the wider social acceptability of existing testing practices and their potential further expansion. This paper demonstrates four different versions of the discrimination worry, (...) indicates how international policy papers have reacted to them, and identifies the ethically most relevant feature of the concern. (shrink)

Noninvasive prenatal testing (NIPT) has become widely available in recent years. While initially used to screen for trisomies 21, 18, and 13, the test has expanded to include a range of other conditions and will likely expand further. This paper addresses the ethical issues that arise from one particularly controversial potential use of NIPT: screening for adult‐onset conditions (AOCs). We report data from our quantitative survey of Australian NIPT users' views on the ethical issues raised by NIPT for AOCs. The (...) survey ascertained support for NIPT for several traits and conditions including AOCs. Participants were then asked about their level of concern around implications of screening for AOCs for the future child and parent(s). Descriptive and comparative data analyses were conducted. In total, 109 respondents were included in data analysis. The majority of respondents expressed support for NIPT screening for preventable (70.9%) and nonpreventable AOCs (80.8%). Most respondents indicated concern around potential harmful impacts associated with NIPT for AOCs, including the psychological impact on the future child and on the parent(s). Despite this, the majority of participants thought that continuation of a pregnancy known to be predisposed to an AOC is ethically acceptable. The implications of these data are critically discussed and used to inform the normative claim that prospective parents should be given access to NIPT for AOCs. The study contributes to a body of research debating the ethical acceptability and regulation of various applications of NIPT as screening panels expand. (shrink)

Selected aneuploidies can be rapidly diagnosed by the analysis of fluorescent polymerase chain reaction (PCR) products of chromosome‐specific and highly polymorphic small tandem repeats (STRs). The quantitative STR patterns obtained from samples of normal individuals are markedly different from those seen when patients with aneuploidies involving chromosome X, or trisomies of chromosomes 21 and 18, are tested. For example, while samples from normal subjects – tested with a chromosome 21‐derived STR (D21S11) – show two fluorescent PCR peaks with similar activities (...) in a 1:1 ratio, the analysis of samples from patients with trisomy 21 reveals the presence of either three peaks (ratio 1:1:1), or two peaks with a ratio of 2:1. The use of an internal non‐polymorphic marker allows identification of trisomic samples with three copies of the same allele. This rapid approach (24 hours) is particularly valuable when applied to prenatal diagnosis of chromosomal abnormalities since it reduces the time of anxiety of the parents waiting for the results of the conventional cytogenetic tests, which require several weeks. (shrink)

Conversing happily with my son we had been driving home when my mobile phone rang. Startled at the sound of my obstetrician's voice I had pulled off to the side of the road. At 18 weeks gestation I was told in a factual tone that the results from my serum screen had come back, indicating that our baby was at increased risk of Trisomy 18. Gripping the steering wheel my head had spun as he talked, explaining that Trisomy (...) 18 was worse than Trisomy 21 because our baby was not going to live. We had been thrilled when we heard the news of my pregnancy but now my temples throbbed and tears brimmed in my eyes. Suddenly my world was turned upside down and it had felt like someone reached into my chest and ripped my heart out.My husband and I decided that an amniocentesis was needed for a positive diagnosis and this was arranged for the following day. Studiously the sonographer performed the diagnostic ultrasound with a furrow across his brow. Watching the monitor I saw my baby moving as I watched the colours of red and blue flow through the heart and heard the regular, fast rhythm of the heartbeat. Quietly I hoped that the news was good but the creased brow had told me otherwise. Holding the amniotic fluid in his right hand the sonographer had glanced from it to me and empathetically informed me that the news wasn't good and that he didn't need to send the sample off for a positive diagnosis. Once again my world was crashing and all I wanted to do was bury my head in a pillow and sob. The following weekend dragged and had been filled with streams of tears and emotional turmoil. All I wanted to …. (shrink)

Over the past decade, non-invasive prenatal testing (NIPT) has been adopted into routine obstetric care to screen for fetal sex, trisomies 21, 18 and 13, sex chromosome aneuploidies and fetal sex determination. It is predicted that the scope of NIPT will be expanded in the future, including screening for adult-onset conditions (AOCs). Some ethicists have proposed that using NIPT to detect severe autosomal AOCs that cannot be prevented or treated, such as Huntington’s disease, should only be offered to prospective parents (...) who intend to terminate a pregnancy in the case of a positive result. We refer to this as the ‘conditional access model’ (CAM) for NIPT. We argue against CAM for NIPT to screen for Huntington’s disease or any other AOC. Next, we present results from a study we conducted in Australia that explored NIPT users’ attitudes regarding CAM in the context of NIPT for AOCs. We found that, despite overall support for NIPT for AOCs, most participants were not in favour of CAM for both preventable and non-preventable AOCs. Our findings are discussed in relation to our initial theoretical ethical theory and with other comparable empirical studies. We conclude that an ‘unconditional access model’ (UAM), which provides unrestricted access to NIPT for AOCs, is a morally preferable alternative that avoids both CAM’s fundamental practical limitations and the limitations it places on parents’ reproductive autonomy. (shrink)

Breaking bad news (BBN) to parents whose newborn has a major disease is an ethical dilemma. In Saudi Arabia, BBN about newborns is performed according to the parental preferences that have been reported from non-Arabic/non-Islamic countries. Saudi mothers' preferences about BBN have not yet been studied. Therefore, we aimed to elicit the preferences of Saudi mothers about BBN concerning newborns. We selected a convenience sample of 402 Saudi mothers, aged 18-50 years, who had no previous experience with BBN. We selected (...) them via a simple number-randomization scheme from the premises of a level III Saudi hospital between October of 2009 and January of 2011. We used a hypothetical situation (BBN about trisomy 21) to elicit their preferences about BBN concerning newborns via a structured verbal questionnaire composed of 12 multiple-choice questions. We expressed their preferences as percentages (95% confidence interval), and we used the Kendall's W test (W) to assess the degree of agreement in preferences. The Saudi mothers preferred that BBN be conducted with both parents together (64% [60-69]), albeit with weak levels of agreement (W = 0.29). They showed moderate agreement in their preferences that BBN should be conducted early (79% [75-83], W = 0.48), in detail (81% [77-85], W = 0.52), in person (88% [85-91], W = 0.58), and in a quiet setting (86% [83-90], W = 0.53). With extremely weak agreement, they preferred to have a known person present for support during BBN (56% [51-61], W = 0.01), to have close bodily contact with their babies (66% [61-70], W = 0.10), and to have no another patients present (64% [59-68], W = 0.08). They showed moderate levels of agreement in their desires to detail, in advance, their preferences about process of BBN by giving a reversible, written informed consent that could be utilized for guidance, if needed (80% [76-84], W = 0.36). In our experience, Saudi mothers' preferences about BBN concerning newborns are varied, suggesting that a "one-size-fits-all" approach is inappropriate. A reversible, written informed consent detailing their preferences about BBN that would be kept in their medical records and utilized for guidance, if needed, may be the best solution, given this level of diversity. These findings merit further study. (shrink)

New technologies create new complexities. Since non-invasive prenatal tests (NIPTs) were first introduced, keeping pace with complexity constitutes an ongoing task for medical societies, politics, and practice. NIPTs analyse the chromosomes of the fetus from a small blood sample. Initially, NIPTs were targeted at detecting trisomy 21 (Down syndrome): meanwhile there are sequencing techniques capable of analysing the entire genome of the unborn child. These yield findings of unclear relevance for the child’s future life, resulting in new responsibility structures (...) and dilemmas for the parents-to-be.The industry’s marketing strategies overemphasize the benefits of the tests while disregarding their consequences. This paper chooses the opposite path: starting with the underestimated consequences, it focuses on adverse developments and downsides. Disparities, paradoxes, and risks associated with NIPTs are illustrated, ethical conflicts described. Indications that new technologies developed to solve problems create new ones are examined. In the sense of critical thinking, seemingly robust knowledge is scrutinized for uncertainties and ambiguities. It analyses how the interplay between genetic knowledge and social discourse results in new dimensions of responsibility not only for parents-to-be, but also for decision-makers, authorities, and professional societies, illustrated by a review of different national policies and implementation programmes. As shown by the new NIPT policy in Norway, the consequences can be startling. Finally, a lawsuit in the United States illustrates how an agency can risk forfeiting its legitimation in connection with the inaccuracy of NIPTs. (shrink)

Dysregulation of genes that control cell‐cycle progression and DNA repair is a hallmark of tumorigenesis. It is becoming increasingly apparent, however, that these defects also contribute to degeneration of post‐mitotic neurons under certain conditions. The gene for ataxia‐telangiectasia mutated (ATM) is a prototype for this dual mechanism of action, with loss‐of‐function mutations causing not only selective degeneration of cerebellar neurons but also increased susceptibility to breast cancer and hematologic malignancy. Increased dosage of amyloid precursor protein in Down syndrome (trisomy (...) 21) predisposes to dementia of Alzheimer type and may also contribute to acute leukemia and transient myeloproliferative disorder. The gene parkin, loss‐of‐function mutations in which account for about half of cases of early‐onset Parkinson disease, has been identified as a candidate tumor suppressor gene by several groups. Parkin is deleted or downregulated in several tumor types, and its re‐expression sensitizes derivative cell lines to inhibitors of cell‐cycle progression. The overlap of molecular pathways implicated in cancer and neurodegeneration challenges long‐held notions about differentiated cellular states and may open the door to novel therapeutic approaches to both groups of disorders. BioEssays 30:719–727, 2008. © 2008 Wiley Periodicals, Inc. (shrink)

The screening of in vitro embryos resulting from in vitro fertilization treatment for chromosomal abnormalities has as a primary aim to help patients achieve a successful pregnancy. Most IVF centers will not transfer aneuploid embryos, as they have an enhanced risk of leading to implantation failure and miscarriage. However, some aneuploidies, such as trisomy-21, can lead to viable pregnancies and to children with a variable health prognosis, and some prospective parents may request transfer of such embryos. I present two (...) cases where the testing for and detection of trisomy-21 can lead to conflicts between IVF professionals and patients and argue that in most such cases respect for choices of patients should prevail. (shrink)

This chapter contains sections titled: On Definition Theories of Gaming A Definition of Videogames.

This chapter contains sections titled: The Problem with Crime Simulators Are Games Bad for You? On Being Offensive Sticking up for Videogames.

This chapter contains sections titled: From Tennis for Two to Worlds of Warcraft Imaginary Worlds and Works of Fiction Fictional or Virtual? Interactive Fiction.

This chapter contains sections titled: The Stories Games Tell Would You Kindly Put down That Wrench? Reconciling Games and Narratives.

This chapter contains sections titled: How Can We Be Moved by the Fate of Niko Bellic? My Fear of Mutants The Role of the Emotions in Gaming.

This chapter contains sections titled: The Nature of Gaming What Are the Rules of This Game? Playing, Cheating, Fragging, and Griefing.

The prelims comprise: Half‐Title Page Wiley Series Page Title Page Copyright Page Dedication Page Table of Contents Acknowledgments.

This chapter contains sections titled: Welcome to Rapture Meet Niko Bellic Experiencing Game Worlds Acting in Game Worlds.

This chapter contains sections titled: Are Videogames Art? A Cluster Theory of Art The Art in Videogames New Art from Old Bottles.

Nigeria is an example of developing countries characterised by mass poverty in the midst of plenty. Coincidentally, the Nigerian church is stupendously rich. Pastor Emmanuel, a former National Coordinator of the Redeemed Christian Church of God, Germany, notes that the annual revenue of the Nigeria church in 2014 is over ₦3 trillion while surprisingly, the national budget is ₦4.69tn for the year. Gigantic buildings, exotic cars and private jets are the hallmarks of the church’s wealth. Some pastors acquire jets ranging (...) from ₦2.3 to ₦6.4 billion with additional ₦8.4bn for maintenance and salaries annually. Surrounded by this ‘affluence’ are thousands of poor, unemployed and barely surviving church members. This calls for the need to examine what Lukan Jesus would have wanted the church to do with her wealth. This article examines Lukan parables on the rich and the poor using narratological method. Thus, the parables’ context, the characterisation and the plot is analysed, including lexical-syntactical relationships. Finally, the lessons derived is used via socio-scientific reading of the Nigerian situation to arrive at a theology of social action for the poor. Most parables are open-ended, a literary device that ensures the readers take a decision, therefore the message focuses on the church rather than individual Christians. Contribution: The article recommends that church-owned institutions should make education accessible to the poor, rise against socio-economic policies that will impoverish people while seeking economic independence of the poor. Finally, the church should also integrate the differently-abled into the church. (shrink)

In this commentary I assess the possible harms to a fetus with trisomy 18 of continued life. I argue that, although there is good reason to avoid subjecting infants to major surgery and prolonged intensive care where there is little chance of benefit, doctors should support and engage honestly with parents who decide to continue their pregnancies. We should ensure that infants with trisomy 18 have access to high quality palliative care.

Aggressive medical and surgical interventions have not been clearly demonstrated to improve survival in neonates with trisomy 18; there are no data that demonstrates improved quality of life for these children after these interventions; and these interventions are clearly associated with significant morbidity, resource allocation, and cost.

Die indische Philosophin und Aktivistin Radha d’Souza begegnet dem Begriff Weltzivilgesellschaft mit größter Vorsicht und Skepsis. Selbst jahrelang in existenzielle Auseinandersetzungen um Grundrechte auf natürliche Ressourcen wie Wasser und Ackerland und höchstgerichtliche Entscheidungen verwickelt, sieht d’Souza im Begriff der Weltzivilgesellschaft in der Hauptsache den Versuch, einer neuerlichen Bemäntelung imperialistischer, westlicher Interessen, die sich nun nicht nur durch Entscheidungen von Regierungen legitimieren, sondern gar durch den Willen ihrer zivilen Bevölkerung.