The person behind the diagnosis is a qualitative interview study by Nicole Kling. The study examines how parents of children with Down syndrome experience the social treatment in a time when prenatal diagnosis is on the rise. Foucault’s biopolitical and Rose’s ethopolitical perspectives serve as theoretical frameworks for the analysis of how the parents experience and relate to the social treatment of them and their children. The study’s results show that society’s strong norms of normality play a crucial role for the interviewed parents’ experiences of being regarded as “deviating”. Ignorance, undemandingness and carelessness lead to discrimination of the children, and the lack of expectations of society on them is often seen by the parents as more disabling than the diagnosis itself. In such a society children born with Down syndrome can be seen as pathological elements in a population that strives for normality. Therefore, this study wishes to contribute to the body of research dedicated to explore the impact of biopolitical strategies on the plurality of society. / Människan bakom diagnosen är en kvalitativ intervjustudie gjord av Nicole Kling. Studien undersöker hur föräldrar till barn med Downs syndrom upplever det samhälleliga bemötandet i en tid där fosterdiagnostik är på framväxt. Foucaults biopolitiska och Roses etopolitiska perspektiv fungerar som teoretiska ramverk för analysen av hur föräldrarna upplever och förhåller sig till det samhälleliga bemötandet av dem och deras barn. Studiens resultat visar att samhällets starka normalitetsnormer spelar en avgörande roll för de intervjuade föräldrarnas upplevelser av att de och deras barn i och med diagnosen betraktas som ”avvikande”. Okunskap, kravlöshet och slarv leder till diskriminering av barnen, och samhällets bristande förväntningar på dem ses av föräldrarna ofta som mer funktionsnedsättande än diagnosen i sig. I ett sådant samhälle kan barn som trots allt föds med Downs syndrom ses som patologiska inslag i en befolkning som strävar efter normalitet. Studien hoppas därför kunna bidra till det forskningsfält som avser undersöka biopolitiska strategiers påverkan på mångfald.

<p>In this thesis the scope and limits of reprogenetic choices - refering to reproductive applications of genetics made in the medical context - is adressed.</p><p>Through posing four analytical questions concerning who should cecide about what in reprogenetics an analysis of possible answers is made. The method consists of an analysis of texts of ethicists Robertson, Strong, Davis, Murray, Peters and Buchanan et al, chosen to reflect a diversity concerning the scope of reproductive autonomy and what values that need to be taken into consideration.</p><p>The most justified position found, concerning a possible policy of reprogenetic choices, is that there are several good reasons for leaving the reprogenetic choices with the parents, foremost since reproduction indeed is central to individuals identity, dignity and meaning of life. There are also good reasons to avoid governmental steering. This for instance since steering risks promoting perfectibilism, which would threaten human dignity. But also the reprogenetic choices cannot be left unrestricted. It is then argued that restrictions of parental reproductive autonomy should serve to protect the childs right to an open future, and that choices that reflect a search for perfectibilism should be cautioned. Autonomous reprogenetic choices should mean qualified choices - where relevant information is given and also an opportunity to make more than one choice is fostered.</p>

In this thesis the scope and limits of reprogenetic choices - refering to reproductive applications of genetics made in the medical context - is adressed. Through posing four analytical questions concerning who should cecide about what in reprogenetics an analysis of possible answers is made. The method consists of an analysis of texts of ethicists Robertson, Strong, Davis, Murray, Peters and Buchanan et al, chosen to reflect a diversity concerning the scope of reproductive autonomy and what values that need to be taken into consideration. The most justified position found, concerning a possible policy of reprogenetic choices, is that there are several good reasons for leaving the reprogenetic choices with the parents, foremost since reproduction indeed is central to individuals identity, dignity and meaning of life. There are also good reasons to avoid governmental steering. This for instance since steering risks promoting perfectibilism, which would threaten human dignity. But also the reprogenetic choices cannot be left unrestricted. It is then argued that restrictions of parental reproductive autonomy should serve to protect the childs right to an open future, and that choices that reflect a search for perfectibilism should be cautioned. Autonomous reprogenetic choices should mean qualified choices - where relevant information is given and also an opportunity to make more than one choice is fostered.

La place du Dépistage Prénatal Non Invasif (DPNI) n’est pas encore clairement définie dans le dépistage prénatal de la trisomie 21 en France. Nos objectifs étaient d’évaluer la compréhension, les connaissances, et l’attitude de professionnels de santé et de patientes concernant le DPNI.Une étude prospective multicentrique par questionnaire auprès de patientes enceintes et de professionnels de santé a été menée dans différents hôpitaux français entre février 2014 et juillet 2015.Sur les 260 questionnaires recueillis chez les professionnels, le score moyen de connaissances était 5,38±2,83(sur 10)et 92,7%(n=241) avaient une attitude favorable face au DPNI. En analyse multivariée, les facteurs associés à un bon niveau de connaissances étaient la profession de gynécologue ou de conseiller en génétique, l’âge<30 ans, le fait de travailler à l’hôpital ou en cabinet et le fait de suivre>50 grossesses par an.Sur les 380 questionnaires de patientes, le score moyen de connaissances était faible 2,20±1,88(sur 10) et 89,9%(n=328) avaient une attitude favorable face au DPNI. En analyse multivariée, les facteurs associés à un bon niveau de connaissances chez les patientes étaient l’âge maternel et le fait de consulter en secteur privé.Le niveau de connaissances des professionnels et des patientes sur le DPNI est faible. La plupart des patientes ne peuvent pas formuler de consentement éclairé. Toutefois, la plupart des professionnels et des patientes sont très en faveur de ce test. La généralisation du DPNI dans le dépistage de la trisomie 21 implique un important programme de formation des professionnels afin qu'ils délivrent une information prénatale de qualité et non directive. / The place of Non Invasive Prenatal Testing(NIPT) is not clearly established for prenatal screening for Down syndrome in France. Our objectives were to assess the understanding, knowledge of, and attitudes towards NIPT in French patients and healthcare providers.A prospective multicenter study was performed in several French hospital centers between February 2014 and July 2015. A survey was administered to pregnant patients and to healthcare professionals.A total of 260 questionnaires were completed by healthcare providers. The average knowledge score was 5,38±2,83(out of a possible 10). In multivariate analysis, the characteristics associated with satisfactory knowledge were: profession as obstetrician or genetic counsellor, age<30 years, working in hospital or in doctor’s office, more than 50 pregnancies followed per year. Among professionals, 92,7%n=241) had a favorable attitude towards NIPT.We collected 380 questionnaires from pregnant women. The average knowledge score was very low: 2,20±1,88(out of 10). In multivariate analysis, the two significant characteristics associated with satisfactory knowledge was maternal age and having prenatal care in private practice. Among patients, 89,9%(n=328) had a favorable attitude towards NIPT.The level of knowledge of NIPT of healthcare professionals and patients is low. Many patients can not provide informed consent. However most professionals and patients are in favor of the use of this test. The input of NIPT in prenatal screening for trisomy 21 requires a considerable teaching program for healthcare providers so they can give balanced pretest information and non-directive counselling.

This thesis addresses the conflict traditionally found within moral philosophy between deontological and utilitarian schools of thought. Using the example of the serious moral ambivalence experienced by individuals who are deciding whether to end or continue a difficult pregnancy, it is argued that this ambivalence is the result of both absolute principles (such as the intrinsic value of human life) and outcome based considerations (such as the desire to avoid causing pain and suffering) appearing to be morally reasonable, while also being fundamentally opposed: Each course of action is at once morally defensible on the basis of its own reasonableness, and, conversely, reprehensible due to the reasonableness of the other. This lived experience of moral ambivalence is directly reflected by the tension between deontology and utilitarianism as it occurs at the moral philosophic level, where the deontological emphasis on the unconditional rightness of certain principles is seen to be at irreconcilable odds with the utilitarian emphasis on the attainment of certain ends. The thesis’ central claim is that such ambivalence strongly indicates that human morality is neither exclusively one type or the other, and that both types of moral property are in fact reasonable, and thus have moral value. It is theorised that accounting for this dual reasonableness would lead to the most accurate and helpful representation of the human moral experience – but that the philosophic ‘divide’ between the two types of principle has led to an either/or situation, which has largely prevented this sort of understanding from being developed. The thesis argues that Victorian philosopher Henry Sidgwick developed a view in which neither deontological nor utilitarian principles can be fully realised without reference to the other, precisely on the basis that both can be found to be ultimately rational. This thesis aims to revitalise that theory – represented by the term ‘Rational Benevolence’ - to show that Sidgwick reconciled the divide between absolute and end based principles in such a way that the relationship between them becomes a ‘synthesis’. In this synthesis, deontological and utilitarian concepts are both seen as essential components of morality, that combine to form a dynamic whole in which the value of each principle is both indicated and naturally limited by the value of the other, on account of their respective rationalities. It is argued that this provides a more comprehensive understanding of the reality of the human moral experience, and better moral justification for either course of action in situations of complex and sensitive ethical decision making.

Introduction: Les incertitudes des pronostics cliniques et les dilemmes moraux associés aux technologies des tests prénataux affectent les expériences et les processus décisionnels des femmes et des couples. D’une part, la validité des normes relatives au ‘consentement autonome’ et au conseil ‘non directif’ est remise en question. D’autre part, les aides à la décision sont prônées pour rehausser la prise de décision éclairée. L’objectif de ce mémoire est de construire un modèle de l’expérience des femmes et des couples qui font face aux tests prénataux afin d’identifier les facteurs qui amélioreraient les expériences, la prise de décision et le rôle des aides à la décision et informeraient le modèle de soin. Méthodologie: La modélisation et l’analyse des expériences des femmes et des couples qui affrontent les tests prénataux reposent sur une méta-ethnographie des études qualitatives et sur une analyse narrative thématique des études quantitatives. La critique d’un outil (PT) en matière de tests prénataux est également effectuée en ayant recours aux critères de qualité de l’International Patient Decision Aid Standards (IPDAS). Résultats: Un cadre conceptuel décrivant les expériences vécues est construit et l’analyse thématique le complète en soulignant que la prise de décision n’est que rarement éclairée. Les normes d’une ‘décision autonome’ et d’un ‘conseil non directif’ sont problématiques pour les femmes. Les aides à la décision amélioraient les scores de connaissances, sans pour autant modifier la perception du risque, ni les niveaux d'anxiété. L’outil PT favorise une prise de décision basée sur les préférences, mais les critères IPDAS sont difficilement applicables et leur rôle dans une décision de qualité est incertain. Discussion et conclusion: Les résultats éclairent les facteurs macro, méso et micro pouvant améliorer les expériences vécues des femmes et des couples et affecter la prise de décision et l’utilisation des aides à la décision. Un changement de paradigme préconisant le concept d’autonomie relationnelle dans le modèle de soins est suggéré. Dans le contexte des avancées en matière de test prénataux, une réévaluation des normes de pratique et de modèles de soin est requise. Le rôle des aides à la décision devra être élucidé. / Introduction: The clinical prognostic uncertainties and moral dilemmas associated with technological advances of prenatal testing impact the experiences and decision-making of women and couples. While the validity of the norms of ‘autonomous consent’ and ‘non-directive’ counseling is being questioned, decision aids are promoted to enhance informed decision-making. The goals of this thesis are to develop a model of the experiences of women and couples in prenatal testing so as to identify factors that may improve experiences, decision-making, the role of decision aids and inform the care model. Methods: A model of the experiences of prenatal testing is developed through a meta-ethnography of qualitative studies and a narrative synthesis of the themes explored in quantitative studies. A prenatal testing (PT) decision tool is critically assessed using the International Patient Decision Aids Standards (IPDAS) quality criteria for decision aids. Results: A conceptual framework of the experiences of women and couples in prenatal diagnosis is constructed and complemented by a narrative thematic analysis showing that decision-making is rarely informed and that the norms of an ‘autonomous decision’ and a ‘non-directive’ counselling are problematic for women. Decision aids improve knowledge scores, but do no modify risk perception or anxiety levels. A PT tool increases preference based informed decision-making, but quality criteria are not always applicable and their role in quality decision-making is unclear. Discussion and conclusion: The results highlight macro, meso and micro-level factors that may improve the experiences of women and couples and inform decision-making processes as well as the use of decision aids. A paradigm shift towards the concept of relational autonomy in the prenatal diagnosis model of care is suggested. Advances in prenatal testing require a re-evaluation of the norms of practice and care model. The role of decision aids requires further elucidation.

Le test génomique prénatal non invasif (TGPNI) est un test présentement offert au Canada, dans le cadre de programmes provinciaux de dépistage prénatal des aneuploïdies, comme test de seconde intention. Il est également disponible au privé comme test de 1ère intention et/ou pour un nombre étendu de conditions génétiques. Ce projet visait à d’identifier les enjeux soulevés par l’offre du TGPNI en 1ère intention et du TGPNI pour un nombre étendu de conditions, selon des associations canadiennes représentant des gens avec des conditions génétiques ciblées par le TGPNI. Des entrevues semi-structurées ont été réalisées avec des représentants de douze associations régionales, provinciales et nationales. Les entrevues furent transcrites puis analysées par analyse thématique. Les associations ont relevé tant des éléments positifs que négatifs. D’un côté, elles perçoivent comme problématique l’accès privé au TGPNI en 1ère intention ou étendu, puisqu’il entraîne une inégalité d’accès à l’information sur le foetus. Par contre, les associations craignent que l’offre du TGPNI, mais surtout une possible routinisation de l’offre tu test, puisse avoir un impact sur la vision sociétale des conditions ciblées. Elles soulignent qu’il est important de considérer les impacts potentiels du TGPNI, dont le risque de discrimination. Les associations sont critiques de l’information véhiculée lors de la discussion des tests et pensent pouvoir jouer un rôle pour améliorer l’information donnée aux personnes enceintes. Ces résultats réitérent l’importance de prendre en considération les perspectives des différentes parties prenantes lors de la prise de décisions de politiques de santé. / Non-invasive prenatal genomic testing (NIPT) is a test that is currently available in Canada as a second-tier test in provincial prenatal aneuploidy screening programs. It is also available privately as a first-tier test and/or offered for a wide range of genetic conditions. The purpose of this project was to identify the issues raised by the availability of NIPT as a first-tier test and NIPT for a wide range of conditions, according to Canadian associations representing people with genetic conditions targeted by NIPT. Semi-structured interviews were conducted with representatives from twelve regional, provincial and national associations. The interviews were transcribed and analyzed by thematic analysis. The associations identified both positive and negative elements. They perceived private first-tier and expanded access to NIPT as problematic, as it results in unequal access to fetal information. On the other hand, the associations were concerned about a possible routinization of NIPT and about the message sent by the offer of NIPT regarding the societal perception of the targeted conditions. They stressed the importance of considering the potential impacts of NIPT, including the risk of discrimination. The associations are uncertain regarding what type of information ought to be communicated during the discussion of the tests and believe they can play a role in improving the information provided to pregnant people. These results highlight the importance of considering the perspectives of different stakeholders when making health policy decisions.

Prenatal assessment of fetal health is routinely offered throughout pregnancy to ensure that the most effective management can be provided to maintain fetal and maternal well-being. Currently, invasive testing is used for definitive diagnosis of fetal aneuploidy, which is associated with a 1% risk of iatrogenic fetal loss. Developing non-invasive prenatal testing (NIPT) is a key area of research and methods to increase the level of cell-free fetal DNA (cffDNA) within the maternal circulation have been discussed to improve accuracy of such tests. In this study, three strategies; co-amplification at lower denaturation temperature polymerase chain reaction (COLD-PCR), inverse-PCR and Pippin Prep™ gel electrophoresis, were analysed to identify a novel approach to selectively enrich shorter cffDNA fragments from larger maternal cell-free DNA (cfDNA). The sensitivity of droplet digital PCR (ddPCR) against real-time PCR (qPCR) was compared for fetal sex and RHD genotyping. In addition RHD zygosity testing was carried out for non-maternal samples. Consequently, Pippin Prep™ gel electrophoresis was combined with ddPCR analysis for the NIPD of Down Syndrome (DS) in pseudo-maternal samples. The results revealed that the Pippin Prep™ gel electrophoresis enrichment approach successfully demonstrated 2-fold to 5-fold increases in the cffDNA fraction. However, further optimisation assays of COLD-PCR and inverse-PCR using actual maternal samples were required. The spike experiments for DS detection revealed that with the present assay IV overrepresentation of the chromosome 21 target could be significantly detected for samples with ≥15% ‘cffDNA fraction’. In conjunction with the Pippin Prep™ enrichment method, this would have enabled assessment of all 10 maternal samples. Alternatively, fetal sex and RHD genotyping results determined that ddPCR provides a more sensitive platform compared to qPCR approaches, particularly for samples that express low cffDNA fractions (<2%). The ddPCR platform also proved to be a rapid and accurate system for the determination of RHD zygosity. This study highlights that ddPCR could be used as opposed to qPCR for accurate determination of fetal sex and RHD status. While sequencing approaches currently provide the most sensitive platforms for NIPT of fetal aneuploidy, high costs (>£400) prevent universal application. The combination of cffDNA enrichment with ddPCR analysis could provide a cheaper and more widely available platform for NIPD. However, further large scale validation studies using actual maternal samples are required.