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One stated objective of prenatal screening and diagnosis is the preparation for delivering a baby with medical needs or disability, however, psychosocial outcomes of parents who received a prenatal diagnosis suggest that this objective is not yet realised. Preparation may be complicated by diagnostic and prognostic uncertainty. A prenatal diagnosis that includes significant uncertainty due to the heterogeneous presentations, classifications, causes and outcomes is agenesis of the corpus callosum. As a neuroanatomical anomaly identified in the second or third trimesters, the diagnosis is likely to cause distress for expectant mothers, yet there is limited guidance for holistic support. To begin to address the paucity of research, this hermeneutic phenomenological study sought to explore, and provide a telling of the maternal experience of continuing pregnancy after a prenatal diagnosis of agenesis of the corpus callosum. Through interviews and a series of online, asynchronous and facilitated focus groups, lived experiences during pregnancy from the time of diagnosis to birth were explored with 26 mothers who participated in this international study. Themes were constructed through reflexive thematic analysis to describe the experience of the lived phenomenon. The first theme, Under Threat , included subthemes of The Threat to the Life of the Baby and Threatened Image of the Expected Family. The second theme, Day to Day Toward Adaptation , included subthemes of Holding it Together and Falling Apart, and More Than Information, Searching for Meaning, Hope and Control. To realise the commonly stated objective of prenatal diagnosis, to support maternal preparation, healthcare professionals require awareness of the profound, yet individual experience of prenatal diagnosis to adequately respond and support mothers through their continued pregnancies. Healthcare services should be designed to flexibly respond in a woman- and family-centred manner to reduce the threat and support maternal adaptation after a prenatal diagnosis. • Many mothers recounted a dissociative response to the news of the anomaly. • The diagnosis was experienced as a threat to the life of the baby and expected family. • Mothers engaged many strategies to hold it together, and their falling apart was hidden. • Mothers needed more than information, they searched for meaning, hope and control. • Professionals require awareness of the profound experience of a prenatal diagnosis. [ABSTRACT FROM AUTHOR]

When evaluating new morally complex health technologies, policy decision-makers consider a broad range of different evaluations, which may include the technology's clinical effectiveness, cost effectiveness, and social or ethical implications. This type of holistic assessment is challenging, because each of these evaluations may be grounded in different and potentially contradictory assumptions about the technology's value. One such technology where evaluations conflict is Non-Invasive Prenatal Testing (NIPT). Cost-effectiveness evaluations of NIPT often assess NIPT's ability to deliver on goals (i.e preventing the birth of children with disabilities) that social and ethical analyses suggest it should not have. Thus, cost effectiveness analyses frequently contradict social and ethical assessments of NIPT's value. We use the case of NIPT to explore how economic evaluations using a capabilities approach may be able to capture a broader, more ethical view of the value of NIPT. The capabilities approach is an evaluative framework which bases wellbeing assessments on a person's abilities, rather than their expressed preferences. It is linked to extra-welfarist approaches in health economic assessment. Beginning with Nussbaum's capability framework, we conducted a directed qualitative content analysis of interview data collected in 2014 from 27 Canadian women with personal experience of NIPT. We found that eight of Nussbaum's ten capabilities related to options, states, or choices that women valued in the context of NIPT, and identified one new capability. Our findings suggest that women value NIPT for its ability to provide more and different choices in the prenatal care pathway, and that a capabilities approach can indeed capture the value of NIPT in a way that goes beyond measuring health outcomes of ambiguous social and ethical value. More broadly, the capabilities approach may serve to resolve contradictions between ethical and economic evaluations of health technologies, and contribute to extra-welfarist approaches in the assessment of morally complex health technologies. [ABSTRACT FROM AUTHOR]

‘Experiential knowledge’ is increasingly recognised as an important influence on reproductive decision-making. ‘Experiential knowledge of disability’ in particular is a significant resource within prenatal testing/screening contexts, enabling prospective parents to imagine and appraise future lives affected by disability. However, the concept of ‘experiential knowledge’ has been widely critiqued for its idiosyncrasy, its impermanence and consequently its perceived inferiority to (medical) knowledge. This paper explores some of these key critiques of experiential knowledge through an analysis of its constitution and uses in the context of reproductive decision-making. Seventeen UK-resident women with Spinal Muscular Atrophy (SMA), or with SMA in their family, took part in two in-depth interviews: one in 2007–9 and the other in 2013–4. By comparing and contrasting these women's accounts at two time points, this paper demonstrates the stark contrast between ‘lived experience’ of SMA (the visceral everyday realities of life with the condition) and the various way(s) this experience was transformed into, and presented as, ‘knowledge’ through the processes of making, and accounting, for reproductive decisions. The analysis highlights that multiple, distinct and sometimes competing experiential frameworks are used to conceptualise SMA across time and context. However, rather than evidence of its fallibility, this finding highlights that ‘knowledge’ is an inappropriate vessel with which to capture and transfer ‘experiential knowledge’. Rather, we need to consider how to value such insight in ways that harnesses its inherent strength without leaving it vulnerable to the epistemological critiques attracted by labelling it ‘knowledge’. [ABSTRACT FROM AUTHOR]

Prenatal screening occupies a prominent role within sociological debates on medical uncertainty. A particular issue concerns the limitations of routine screening which tends to be based on risk prediction. Computer assisted visual technologies such as Magnetic Resonance Imaging (MRI) are now starting to be applied to the prenatal realm to assist in the diagnosis of a range of fetal and maternal disorders (from problems with the fetal brain to the placenta). MRI is often perceived in popular and medical discourse as a technology of certainty and truth. However, little is known about the use of MRI as a tool to confirm or refute the diagnosis of a range of disorders in pregnancy. Drawing on qualitative research with pregnant women attending a fetal medicine clinic in the North of England this paper examines the potential role that MRI can play in mediating pregnancy uncertainty. The paper will argue that MRI can create and manage women's feelings of uncertainty during pregnancy. However, while MRI may not always provide women with unequivocal answers, the detailed information provided by MR images combined with the interpretation and communication skills of the radiologist in many ways enables women to navigate the issue. Our analysis of empirical data therefore highlights the value of this novel technological application for women and their partners. It also seeks to stress the merit of taking a productive approach to the study of diagnostic uncertainty, an approach which recognises the concepts dual nature. [ABSTRACT FROM AUTHOR]

Significance Lethal fetal diagnoses are made in 2% of all pregnancies. The pregnancy experience is certainly changed for the parents who choose to continue the pregnancy with a known fetal diagnosis but little is known about how the psychological and developmental processes are altered. Methods This longitudinal phenomenological study of 16 mothers and 14 fathers/partners sought to learn the experiences and developmental needs of parents who continue their pregnancy despite the lethal diagnosis. The study was guided by Merleau-Ponty's philosophic view of embodiment. Interviews ( N = 90) were conducted with mothers and fathers over time, from mid-pregnancy until 2–3 months post birth. Data analysis was iterative, through a minimum of two cycles of coding, theme identification, within- and cross-case analysis, and the writing of results. Results Despite individual differences, parents were quite consistent in sharing that their overall goal was to “Have no regrets” when all was said and done. Five stages of pregnancy were identified: Pre-diagnosis, Learning Diagnosis, Living with Diagnosis, Birth & Death, and Post Death. Developmental tasks of pregnancy that emerged were 1) Navigating Relationships, 2) Comprehending Implication of the Condition, 3) Revising Goals of Pregnancy, 4) Making the Most of Time with Baby, 5) Preparing for Birth and Inevitable Death, 6) Advocating for Baby with Integrity, and 7) Adjusting to Life in Absence of Baby. Prognostic certainty was found to be highly influential in parents' progression through developmental tasks. Conclusion The framework of parents' pregnancy experiences with lethal fetal diagnosis that emerged can serve as a useful guide for providers who care for families, especially in perinatal palliative care. Providing patient-centered care that is matched to the stage and developmental tasks of these families may lead to improved care and greater parent satisfaction. [ABSTRACT FROM AUTHOR]

Diagnosis can be both a ‘diagnostic moment’, but also a process over time. This paper uses secondary analysis of narrative interviews on ovarian cancer, antenatal screening and motor neurone disease to explore how people relate assembling procedural, spatial and interactional evidence before the formal diagnostic moment. We offer the idea of a diagnostic assemblage to capture the ways in which individuals connect to and re-order signs and events that come to be associated with their bodies. Building on the empirical work of Poole and Lyne (2000) in the field of breast cancer diagnosis, we identify how patients describe being alerted to their diagnosis, either through ‘clues’ they report picking up (often inadvertently) or through ‘cues’, perceived as a more intentional prompt given by a health professional, or an organisational process. For patients, these clues frequently represent a breach in the expected order of their encounter with healthcare. Even seemingly mundane episodes or behaviours take on meanings which health professionals may not themselves anticipate. Our findings speak to an emergent body of work demonstrating that experiences of formal healthcare during the lead-up to diagnosis shape patients' expectations, degree of trust in professionals, and even health outcomes. [ABSTRACT FROM AUTHOR]

Non-invasive prenatal testing (NIPT) is grounded in the analysis of free circulating fetal DNA (cfDNA) in pregnant women's blood. The rolling out of this screening method was in large part driven by commercial firms, which hoped to reach a huge potential market by offering a test that was expected to be risk-free, reliable, inexpensive, and able to detect a wide range of genetic traits of the future child. To date, most predictions about the scope and uses of NIPT have not materialized: in 2020 NIPT detects only a limited number of genetic anomalies, while results have to be confirmed by amniocentesis. NIPT has become a commercial success. Nevertheless the implementation of NIPT has tended to diverge across different national settings. In countries that already have state-sponsored screening for Down risk, NIPT has been offered by the state health insurance to women defined as "high risk", using a variant of the test that detects only three autosomal aneuploidies: trisomy 21, 13 and 18. These countries effectively regulate the supply of NIPT on grounds of cost-effectiveness and reliability. In countries without state-sponsored screening for Down risk, in contrast, multiple versions of NIPT covering a wider range of birth defects are commonly available on the free market, and purchased by women at low as well as high risk of having an affected child. Market-based healthcare systems tend to present women who can afford to pay for NIPT with a largely unregulated choice of technologies – though reimbursement rules imposed by private insurance providers may serve in effect to regulate use by those consumers who cannot afford to pay for tests from their own pockets. This regulatory divergence is shaped by the presence or absence of prior state-sponsored screening programs for Down risk. • Uses of non -invasive prenatal diagnosis were often shaped by commercial firms. • In spite of its limitations, non -invasive prenatal diagnosis is a marketing success. • There are important national differences in use of non-invasive prenatal diagnosis. • Stratified uses of non -invasive prenatal diagnosis produce situated fetal risks. [ABSTRACT FROM AUTHOR]

Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) offers numerous benefits to pregnant women and their families. It also raises ethical, legal and social concerns regarding, for instance, the possible effects of a routinization of prenatal genetic testing on free and informed decision-making by prospective parents, and the role of the state in governing its use. Technological advances are allowing cfDNA analyses to detect an increasing number of genetic risks and conditions in the fetus, potentially further exacerbating such concerns. From May 2015 to December 2016, we conducted a three-round Policy Delphi study (N R1 = 61, N R2 = 58, N R3 = 47; overall retention rate = 77.0%) to explore the social acceptability (SA) of current and potential future uses of NIPT in Canada according to participants with relevant professional, research or advocacy expertise. Participants came from four groups: healthcare professionals (N R3 = 14), social sciences and humanities researchers (N R3 = 13), patients/disability rights advocates (N R3 = 14), and cultural/religious communities advocates (N R3 = 6). This paper presents SA criteria and contextual contingencies relevant to the assessment of NIPT's SA according to the group. It also reports what uses (conditions or motives) participants thought should be banned, permitted, publicly funded, or promoted as a public health strategy. According to them, conditions resulting in severe pain or early death, as well as trisomies (13, 18, 21) and sex chromosome abnormalities, should be covered by Canadian public health insurance. However, there was wide agreement that direct-to-consumer NIPT should be legally banned, and that testing for fetal sex for non-medical reasons using NIPT should be either proscribed or discouraged. In addition to identifying areas of consensus, our results point to disagreement regarding, for instance, the required level of governance of whole-genome sequencing and testing for late onset conditions with low penetrance. This study also provides a model for exploring the SA of emerging technologies using the Policy Delphi method. • NIPT's social acceptability in Canada is explored using a three-round Delphi method. • Social acceptability is associated with 12 criteria of variable relevance. • Social acceptability depends on conditions tested, governance decisions and context. • Salient ethical tensions between reproductive autonomy and regulation are discussed. • A four-dimension model is proposed to explore social acceptability with experts. [ABSTRACT FROM AUTHOR]

Prenatal diagnosis (PND) has gradually established itself as part of the pregnancy monitoring process, with a view to reducing the number of births of children exposed to disability by combining the use of biomedical tools with laws that authorise abortion in cases of foetal pathology. This article looks at how laws which vary from one country to another modulate the way in which PND practices are organised on a daily basis, determine the discourse of practitioners and lead them to adopt specific stances during prenatal consultations with couples coping with a foetal anomaly. We present a comparative ethnographic study, which took place between 2009 and 2011 in France and Brazil, in reference units, based on observation of consultations, professional meetings, and interviews with health practitioners. The fact that access to abortion due to foetal pathology is possible in France, and criminalised in Brazil, conditions how doctors analyse the framework of their medical practice and approach the issue of disability with couples during consultations. In France, practitioners would appear to be satisfied with a professional framework that they themselves created. Faced with prognostic uncertainty, the legal obligation to inform encourages them to discuss all of the potential complications of the diagnosed anomalies and leads them to provide probabilistic information about the life of the child to be, supported by evidence-based medicine. In Brazil, in the public service, the lack of access to abortion has created a malaise among practitioners who criticise this impediment to the objective nature of their practice and to the quality of the information that they provide. Some use prognostic uncertainty to direct the thoughts of women and couples towards the dynamics proper to each individual human trajectory within a given family and a specific social environment. [ABSTRACT FROM AUTHOR]

Abstract: Exponential growth in genomics has led to public and private initiatives worldwide that have dramatically increased the number of procreative couples who are aware of their ability to transmit genetic disorders to their future children. Understanding how couples process the meaning of being genetically at-risk for their procreative life lags far behind the advances in genomic and reproductive sciences. Moreover, society, policy makers, and clinicians are not aware of the experiences and nuances involved when modern couples are faced with using Preimplantation Genetic Diagnosis (PGD). The purpose of this study was to discover the decision-making process of genetically at-risk couples as they decide whether to use PGD to prevent the transmission of known single-gene or sex-linked genetic disorders to their children. A qualitative, grounded theory design guided the study in which 22 couples (44 individual partners) from the USA, who were actively considering PGD, participated. Couples were recruited from June 2009 to May 2010 from the Internet and from a large PGD center and a patient newsletter. In-depth semi-structured interviews were completed with each individual partner within the couple dyad, separate from their respective partner. We discovered that couples move through four phases (Identify, Contemplate, Resolve, Engage) of a complex, dynamic, and iterative decision-making process where multiple, sequential decisions are made. In the Identify phase, couples acknowledge the meaning of their at-risk status. Parenthood and reproductive options are explored in the Contemplate phase, where 41% of couples remained for up to 36 months before moving into the Resolve phase. In Resolve, one of three decisions about PGD use is reached, including: Accepting, Declining, or Oscillating. Actualizing decisions occur in the Engage phase. Awareness of the decision-making process among genetically at-risk couples provides foundational work for understanding critical processes and aids in identifying important gaps for intervention and future research. [Copyright &y& Elsevier]

Abstract: How far does ethnicity/culture/religion mediate couples’ responses to genetic risk? This paper examines the responses of 51 British Pakistani couples referred to a genetics clinic in southern England to counselling about recurrence risks for genetic problems in children. It is based on fieldwork conducted between 2000 and 2004 that combined participant observation of genetics consultations with interviews in respondents’ homes. Interviews were conducted with 62 adults in connection with these 51 cases, of which 32 were followed through two or more clinical consultations and 12 through more than one pregnancy. Risk responses were categorized as: taking the risk; postponing; exploring risk management or dismissing the risk as irrelevant to current circumstances. Responses were cross-referenced for associations with the severity of the condition, number of affected and unaffected children, availability of a prenatal test, age, gender, and migration history. I found that most couples were initially risk-takers who already had an unaffected child or children. Couples caring for living children with severe conditions were more likely to postpone. However, the risk responses of 15 couples changed over time, most towards and some away from risk management, reflecting changes in couples’ appreciation of the severity of the condition and their subsequent reproductive experiences. The study highlights the diversity and dynamism of responses within one ethnic group and challenges stereotypes about cultural and religious responses to genetic risk. [Copyright &y& Elsevier]

Abstract: Through narrative interviews with 20 pregnant ultra-orthodox [Haredi] Jewish women in Israel conducted between 2007 and 2009, we examine the implications for such women of prenatal testing, and of pregnancy as a gendered route of piety. We found that pregnancy signified both a divine mission and possible reproductive misfortunes. Bearing a child with a disability was taken as a test of faith and God’s decree was to be accepted. Fetal anomaly created anxiety about the women’s ability to fulfill their God-given task and about their position in an unwritten hierarchy of gendered righteousness. Challenging reproductive decisions were often assigned to rabbis, but this did not exempt women from viewing themselves as inadequate in their religious devotion. We conclude that prenatal testing becomes a spiritual ordeal that aggravates pregnancy tensions. [Copyright &y& Elsevier]

Abstract: Understanding the psychosocial impact of a congenital condition such as Down syndrome on affected individuals and their family requires an understanding of the cultural context in which they are situated. This study carried out in 2008 used Q-Methodology to characterize understandings of Down syndrome (DS) in Pakistan in a sample of health professionals, researchers and parents of children with the condition. Fifty statements originally developed for a UK study and translated into Urdu were Q-sorted by 60 participants. The use of factor analytic techniques identified three independent accounts and qualitative data collected during the Q-sorting exercise supported their interpretation. In two accounts, the ‘will of God’ was central to an understanding of the existence of people with DS although perceptions about the value and quality of life of the affected individual differed significantly between these accounts as did views about the impact on the family. The third account privileged a more ‘scientific worldview’ of DS as a genetic abnormality but also a belief that society can further contribute to disabling those affected. Attitudes towards prenatal testing and termination of pregnancy demonstrated that a belief in the will of Allah was not necessarily associated with a rejection of these technologies. Accounts reflect the religious, cultural and economic context of Pakistan and issues associated with raising a child with a learning disability in that country. [Copyright &y& Elsevier]

Abstract: There has been a striking growth in the availability of health-related information based on personal experience in recent years and internet users are often drawn towards other people’s stories about their health. Accounts of other people’s experiences might convey social and emotional information that is not otherwise available but little is known about how it is used or the implications of its use in practice. This paper examines how people refer to information about other people’s experiences when accounting for decisions about antenatal diagnostic testing for foetal abnormality. We conducted a secondary analysis of 37 qualitative interviews undertaken across the UK with 36 women and nine of their male partners (eight couples were interviewed together) who talked about diagnostic testing for foetal abnormality in 55 pregnancies. When describing their decisions, respondents referred to examples of knowledge gleaned from their own and other individuals’ experiences as well as information based on biomedical or clinical-epidemiological research (usually about the probabilities of having a child affected by health problems or the probability of diagnostic tests causing miscarriage). Both forms of knowledge were employed in people’s accounts to illustrate the legitimacy and internal coherence of decisions taken. The analysis demonstrates the personally idiosyncratic ways that people reflect on and incorporate different types of information to add meaning to abstract ideas about risk, to imagine the consequences for their own lives and to help them to make sense of the decisions they faced. [Copyright &y& Elsevier]

Abstract: The diffusion of antenatal screening programmes for Down syndrome has triggered much discussion about their powerful potential to enhance pregnant women''s autonomy and reproductive choices. Simultaneously, considerable debate has been engendered by concerns that such programmes may directly contribute to the emergence of new and complex ethical, legal and social dilemmas for women. Given such discussion and debate, an examination of women''s decision-making within the context of antenatal screening for Down syndrome is timely. This paper aims to undertake a meta-synthesis of qualitative studies examining the factors influencing pregnant women''s decisions to accept or decline antenatal screening for Down syndrome. The meta-synthesis aims to create more comprehensive understandings and to develop theory which might enable midwives and other healthcare professionals to better meet the needs of pregnant women as they make their screening decisions. Ten electronic health and social science databases were searched together with a hand-search of eleven journals for papers published in English between 1999 and 2008, using predefined search terms, inclusion and exclusion criteria, and a quality appraisal framework. Nine papers met the criteria for this meta-synthesis, providing an international perspective on pregnant women''s decision-making. Twelve themes were identified by consensus and combined into five core concepts. These core concepts were: destination unknown; to choose or not to choose; risk is rarely pure and never simple; treading on dreams, and betwixt and between. A conceptual framework is proposed which incorporates these themes and core concepts, and provides a new insight into pregnant women''s complex decision-making processes with regard to antenatal screening for Down syndrome. However, further research is necessary to determine whether or not the development of a model of decision-making may empower pregnant women in making choices about screening. [Copyright &y& Elsevier]

Abstract: The first step in preventing mother-to-child HIV transmission (PMTCT) programmes is offering HIV counselling and testing to pregnant women. In developing countries where HIV testing remains rare, it represents a unique opportunity for many women to learn their HIV status. This prenatal HIV testing is not only the entry point to prevention of mother-to-child HIV transmission, but also an occasion for women to sensitize their male partner to sexual risks. Here we explore if these women, HIV-tested as mothers, apply the prevention recommendations they also receive as women. In the Ditrame Plus PMTCT program in Abidjan, Côte d''Ivoire, two cohorts of women (475 HIV-infected women and 400 HIV-negative women) were followed up two years after the pregnancy when they were offered prenatal HIV testing. In each cohort, we compared the proportion of women who communicated with their regular partner on sexual risks, prior to and after prenatal HIV testing. We analysed socio-demographic factors related to this communication. We measured two potential conjugal outcomes of women HIV testing: the level of condom use at sex resumption after delivery and the risk of union break-up. Prenatal HIV testing increased conjugal communication regarding sexual risks, whatever the woman''s serostatus. This communication was less frequent for women in a polygamous union or not residing with their partner. Around 30% of women systematically used condoms at sex resumption. Among HIV infected ones, conjugal talk on sexual risks was related to improved condom use. After HIV testing, more HIV-infected women separated from their partners than HIV-uninfected women, despite very few negative reactions from the notified partners. In conclusion, offering prenatal HIV counselling and testing is an efficient tool for sensitizing women and their partners to HIV prevention. But sexual prevention in a conjugal context remains difficult and need to be specifically addressed. [Copyright &y& Elsevier]

Abstract: Despite the aim of nuchal translucency screening to enhance reproductive choices among prospective parents, research on the experience of those who choose to decline this screening has been fairly limited. The objective of this study is to gain an understanding of how parents who decline screening account for their decision in a setting where screening for Down''s syndrome in early pregnancy is the norm. The majority of research on prenatal screening choices has been conducted retrospectively; there has been very little research that has explored decision making on a prospective basis and that has included both parents. In order to study this question, a purposive sample of ten couples who had decided to decline screening was recruited from four health care centres in Iceland. Data were gathered in semi-structured interviews conducted with each participant twice during the pregnancy (at 7–12 weeks pregnant and at 12–24 weeks pregnant), for a total of 40 interviews. We find that the decision to decline screening is largely determined by what prospective parents bring with them to the pregnancy, i.e., their personal philosophy of Down''s syndrome and the high value they place on maintaining the complexity of life. The test is also considered unreliable by some of the participants. These findings have implications for those who are involved in formulating and providing antenatal screening policies and practices. [Copyright &y& Elsevier]

Developments in biomedicine have remodelled the time-honoured questions of how to define the normal and the connection between the normal and the norm. This article deals with the expansion of the idea of abnormality through a study of the practices involved in neonatal screening for cystic fibrosis in France. It is based on observations made at meetings between paediatricians and geneticists involved in the screening programme, and a seven-month study in a tertiary care centre for cystic fibrosis. On one hand, the study highlights the technical limitations of screening, which have the effect of expanding biological abnormality. On the other, it deals with the rationales and associated practices used by health care professionals for paediatric monitoring that are behind the expansion of clinical abnormality. Lastly, the consequences of those practices are analysed at the point where neonatal screening and prenatal diagnosis meet, showing how the biomedical norm, with respect to foetuses, is altered. The political and moral space in which this development has occurred is discussed. [Copyright &y& Elsevier]

Prenatal screening for Down's syndrome and other chromosomal anomalies has become common obstetrical practice. The purpose of this intervention is to provide women with the information needed to make informed reproductive choices. It is assumed that the ethical beliefs of parents play an important role in decision-making about whether to undergo testing, but little is known about their precise significance. More insight into how women conceptualize their choice of using prenatal screening tests may clarify the impact of personal ethical beliefs. With this aim, we conducted qualitative research consisting of semi-structured interviews with 59 women in the Netherlands who were offered a prenatal screening test. The analysis showed that the ethical views between acceptors and decliners showed similar diversity. In contrast with the currently accepted view, we conclude that ethical beliefs are one of the factors implicated in the decision. Women decide about prenatal testing by balancing the information provided by the test against the risks of further investigation, the emotional burden of a disabled child on their well-being and life perspective, as well as on those of family members. Normative moral principles are introduced once the choice is made, namely as factors in justifying and supporting the decision. [Copyright &y& Elsevier]

Abstract: Down''s Syndrome prenatal diagnostic and screening techniques have spread widely in France over the last 30 years and are now part of the routine clinical practice of prenatal care. These techniques, which originated in the field of genetics, ultrasonography and biochemistry, were the first to provide the possibility of choosing the features of the foetus, or at least to reject some of its characteristics. They lead to new norms of healthy foetuses and a progressive acceptance of medical abortions. The aim of this paper is to understand how the use of these tests has been generalised in France despite scientific controversies about their risks and ethical questioning about a potential renewal of eugenics. It analyses the representations of public needs that have been articulated by key players in the scientific and medical fields. This research explores political and administrative decision making processes to understand how progressively widening public access to prenatal testing has been organised and funded. The results highlight the scientific and political role of biomedical researchers, the forms of involvement of health authorities and politicians, and the passive participation of the vast majority of the users. The paper also examines the characteristics of the French health system that facilitated the generalised use of the technology. [Copyright &y& Elsevier]

Abstract: Through the lens of the ‘welfare of the child’ assessment, this paper explores how staff working in the area of in vitro fertilisation and preimplantation genetic diagnosis (IVF/PGD) balance reflexive relations of legitimacy and accountability between the public and private spheres, and between medicine, the citizen and the state. The wider research of which this analysis is a part uses multiple methods to study two National Health Service Assisted Conception Units in England. Research methods used included observation clinics and interviews with staff from a range of disciplines. We illustrate how the staff reveal tensions between their views that the welfare of the child assessment can be seen as intrusive and discriminatory, and on the other hand that medical intervention in reproduction should be socially and professionally accountable. These tensions can be understood sociologically in terms of a gradual movement from socially based solutions to fertility problems and disabilities, towards a biomedical, and arguably genetically oriented worldview of such problems. Rather than being viewed as discrete, these two orientations should be seen as indicating an emergent direction of travel along a continuum, with elements of both being present in the accounts. We argue that consideration of the welfare of the child involves staff in ethical boundary-work across the two orientations and between the accountabilities and responsibilities of healthcare professionals, individuals and the state. [Copyright &y& Elsevier]

Abstract: Down''s syndrome has been, and continues to be, a central focus of prenatal testing technology. However, there has been surprisingly little examination of how parental understandings of the condition relate to prenatal testing choices. This study, carried out at the University of Leeds, uses Q methodology to identify ‘competing equivalent stories’ of Down''s syndrome and to highlight the shared and distinct themes within these stories. Seventy-six people were selected as being likely to represent a diverse range of views about Down''s syndrome, approximately half of whom had some known experience or expertise related either to the condition or to prenatal testing. The participants were asked to Q sort 50 propositions about Down''s syndrome that were selected to reflect different views about the condition in terms of its impact on the affected person, on families with an affected child, and on society. Using Principal Components Analysis, five statistically independent factors were extracted that reflected a range of views towards, and experiences of, people with Down''s syndrome. Despite a virtual consensus about the rights of existing people with Down''s syndrome to healthcare, an education, and inclusion in their community, there were significant differences in how participants believed they personally would adjust to an affected child. Furthermore, whether or not people with Down''s syndrome were seen to be within ‘a continuum of normality’ sheds light on how views about the condition may be linked to views about prenatal testing and termination of pregnancy. The study demonstrates that people hold complex and sometimes seemingly contradictory views about Down''s syndrome, and that these are likely to influence their prenatal testing decisions. Antenatal settings currently provide little opportunity for people to discuss and explore their beliefs about disability. It is argued that this may affect the ability of some individuals to make decisions that are informed by their own views and values. [Copyright &y& Elsevier]

Abstract: Assisted reproductive technologies are typically positioned as increasing the range of choices open to the healthcare consumer, thereby enhancing ‘reproductive freedom’. In this paper, we question the equivalence of reproductive choice and personal freedom in ethical theory, using results from a project investigating how lay people make ethical evaluations about the new genetic and reproductive technologies. We took the topic of social sex selection by preimplantation genetic diagnosis (PGD), and used group discussions and interviews in the north-east of England to trace how lay people develop and express their ethical evaluations, and to identify the implicit or explicit normative framework that gave rise to their opinions on prenatal sex selection. There was a striking level of ambivalence towards choice in general and reproductive choice in particular. Participants offered few positive statements and numerous reasons why reproductive choice might be problematic. Our participants’ argumentation shares with mainstream bioethical analysis the weighing of the possible harms of prenatal sex selection for social reasons against the harm of restricting reproductive freedom. However, unlike most secular–liberal bioethicists, many of our participants concluded that prenatal sex selection is undesirable because it is an expression of parental preference instead of a response to the future child''s need. Our interpretation of their reasoning is that they work from an ideal of “good parents”, one of the features of which is the relinquishing of control over their children, except to protect them from harm. This voluntary self-limitation does not indicate reduced autonomy, because parental autonomy can only operate within the limits set by this relational framework. We suggest that a model of relational autonomy captures our lay participants’ framing of the problem better than a more traditional understanding of autonomy. Our study also shows that in appropriately structured discussion of bioethical issues, lay people can articulate reasons for their opinions that are grounded in sophisticated and morally relevant concepts. [Copyright &y& Elsevier]

Abstract: Do the benefits from health research justify the resources devoted to it? Addressing this should not only meet increasing accountability demands, but could also enhance understanding of research utilisation and how best to organise health research systems to increase the benefits. The process from basic research to eventual application and patient benefit is usually complex. The use of antenatal corticosteroids when preterm delivery is expected has featured large in the debates about research utilisation and provides an insight into these complexities. Based on an analysis of previous modelling of research utilisation and payback assessment, a framework is developed in which the existing literature on the use of corticosteroids, combined with new material developed by the authors, can be reviewed and synthesised. The move from animal studies to human trials was undertaken by the same individual. Some early clinical application of the findings occurred concurrently with a series of further trials. Nevertheless, the implementation of these findings stalled rather than accelerated as is predicted by some models. The eventual systematic review of the trials played a part in the development of the Cochrane Collaboration and increased the impact on practice. Further implementation approaches were used in various countries, including clinical guidelines, a National Institutes of Health Consensus Conference, and various implementation projects within the UK. This paper shows how an assessment of the benefits from this stream of research and utilisation projects can be constructed. It concludes that the application of a model for assessing payback can help to demonstrate the benefits from the research in this field and enhance our understanding of research utilisation. [Copyright &y& Elsevier]

Fetal ultrasound screening has become routine practice in many western countries. During the last decade, such screening has led to frequent situations characterised by clinical uncertainty due to the disclosure of soft markers in the unborn child. Soft markers are minor anatomical variations indicating a somewhat increased likelihood that the fetus has a chromosomal aberration, most frequently trisomy 21 (Down syndrome). This paper presents the results of a comprehensive literature search of the National Library of Medicine with emphasis on the chronological development of scientific knowledge in relation to soft markers and the link between advancing imaging technology and clinical counselling dilemmas. An analysis of the literature makes evident that many ultrasound examiners have counselled individual pregnant women on the basis of insufficient data. Moral dilemmas have thus emerged as a direct result of advancing medical technology, and healthy fetal lives prove to have been lost due to invasive diagnostic testing aimed at resolving clinical uncertainty. Ultrasound examiners have warned against a policy of disclosing all findings of soft markers to expectant parents, but no exploration of experiential aspects linked to the disclosure of fetal soft markers has yet been published in the medical literature. The emotional reactions of mothers are important to consider given their potential impact on the biological development of the fetus.In conclusion, this paper stresses the need for paying close attention to the crucial distinction between technology development and technology implementation in relation to prenatal testing. Furthermore, it provides strong arguments for scrutinising the interface between prenatal testing and human experience. [Copyright &y& Elsevier]

Routine use of prenatal diagnostic technologies (PDTs) such as ultrasound and amniocentesis result in the detection of a small percentage of fetal anomalies. For those women faced with the diagnosis of fetal disability, a decision must be made to continue or terminate the pregnancy. When the diagnosis is merely hypothetical, the discursive specter of post-diagnostic abortion is shaped by social and historical contexts in which interested discourses (regional, political, ethical, and religious) weigh in with varying degrees of authority and influence. However, when the diagnosis is actual, in this sample population of women, an estimated minimum of 90% opt to terminate their pregnancies. Data collected at two German hospitals—one in former East Germany, one in former West Germany—illuminate rates of PDT use and provide data with which to discuss the specter of post-diagnostic abortion in relation to mainstream medical discourses, Germany''s divided history, abortion politics, feminism, disability activism, and religion. These data demonstrate how reproductive discourses are shaped by ideological and historical contingencies, even when women''s ultimate reproductive decisions are not. [Copyright &y& Elsevier]

β-thalassaemia is a recessively inherited blood disorder characterised by chronic anaemia. It requires monthly blood transfusions and regular iron chelation. Thousands of affected children are born annually and the magnitude of the problem is most severe in developing countries. Ninety-nine children and 32 adults with thalassaemia major, and 112 parents of patients were interviewed in Antalya, south Turkey, using specifically designed questionnaires to evaluate psychosocial burden. The education of most of the thalassaemic children of school age (60%) was affected, mainly due to having to attend hospital for investigation and transfusions. A high level of parental anxiety (82%) was reported. Nearly half of the families (47%) had employment and financial problems as a result of thalassaemia, yet there was a low level of marital breakdown (1.8%). A substantial majority (93%) of the parental couples would have chosen to terminate an affected pregnancy if they had known that the foetus had thalassaemia major. The results reflect the need for a national policy for public education and screening of thalassaemia in Turkey in order to offer prenatal diagnosis for all families at risk of homozygous thalassaemia. [Copyright &y& Elsevier]

Explores the difficulties encountered by health practitioners about nondirectiveness within the context of antenatal screening and testing in Great Britain. Principles of nondirectiveness; Changes in the delivery of the organizational aspects of antenatal screening; Gap between choice and coercion.

Examines the involvement of costs, limitations and suffering in the prenatal screening for Down's syndrome. Aims of prenatal screening policies ; Interviews with adults with congenital conditions; Use of qualitative and quantitative methods for medical and social models.

Identifies the factors influencing imbalance in the sex distribution of children of the multiparous women attending an antenatal clinic in Hong Kong. Comparison of the expected and observed sex ratios on babies born to women with one previous live birth and women with two; Evidence on practice of sex selection or sex-selected abortion.

Extends a pilot study on measuring the benefits of antenatal screening by modeling the preferences of a larger sample of women, with the investigation of the consistency and validity of their responses. Elicitation of threshold probabilities of fetal loss; Use of standard gambles and Tobit estimation.

States that women continue to have prenatal diagnosis despite the efforts against it by bioethicits, disabilities rights activists, feminists and others. Information on the safer, less expensive prenatal techniques; Examination of medical innovations outlined by John Mckinlay; Information data collected on the process of medico-legal and institutional forces.

Discusses the results of a survey concerning the attitudes and opinions of male and female physicians in Canada toward prenatal diagnosis. Measurement of physicians' willingness to broaden access to PND; Acceptability of abortion with the diagnosis of fetal anomaly; Physicians' attitude towards abortion; Comparison of tendencies between male and female physicians.

Health Technology Assessment (HTA) uses explicit methods to determine the value of a health technology. This typically results in several claims regarding the effects that are expected to follow from the use of a health technology in a particular context. These claims seem to capture conclusions based solely on facts, but they often combine empirical information with normative presuppositions. Claims that have this character reflect (implicit) value judgments and have been labelled mixed claims. Not recognizing these normative components of such claims risks value inattention and value imposition , presenting results as self-evident and not in need of any moral justification. As proposed by Anna Alexandrova, to avoid these risks of value inattention and imposition we need rules to deal with mixed claims. According to her, when producing and evaluating mixed claims we need to unearth the invoked value presuppositions and check whether these presuppositions are invariant to disagreements. By applying these rules, the robustness of mixed claims can be checked: it can be evaluated whether their truth value is independent from the way in which their components, involving normative presuppositions, are conceptualized. This paper aims to illustrate the role of mixed claims in HTA, and expand upon the work by Alexandrova, by analyzing claims and recommendations presented in an HTA report on the introduction of Non-Invasive Prenatal Testing (NIPT) in The Netherlands. Our results show that the report contains mixed claims, and that a normative analysis of these claims can help to clarify the normativity of HTA and evaluate the robustness of claims on alleged effects of a health technology. • HTA examines claims on potential effects of health technology. • Conceptualizing these effects may invoke value judgments. • Causal claims invoking value judgments have been described as mixed claims. • We analyzed mixed claims in an HTA report on Non-Invasive Prenatal Testing. • This showed that normative analysis helps evaluating the robustness of these claims. [ABSTRACT FROM AUTHOR]

Enthusiasm for so-called 'personalized' or 'precision' medicine has encouraged the growth of the molecular diagnostics industry and the proliferation of high-priced proprietary tests that can predict, diagnose or inform the treatment of diverse clinical conditions. Through a case study of non-invasive prenatal testing (NIPT), we explore how the mechanisms governing the development and dissemination of this novel prenatal screening test are most aptly understood as a 'regulatory regime.' We describe how private actors tied to the manufacturers of this test form a network of "experts" that contribute to the coordination of this regime by virtue of their efforts to navigate the governance of test adoption and also form spaces in which the standards governing test adoption are developed. We draw attention to private actors in this regime to demonstrate that they are a constitutive element of the public policy system governing biomedical innovation and adoption. Through this case study of NIPT we deepen our previous analysis of the role of consultants in navigating and shaping a regulatory regime (Holloway and Miller, 2020) and offer new insight about how scientists work with consultants to shape a regulatory regime that serves industry interests. Our work indicates that the private actors tied to the manufacturers of NIPT (experts employed by industry to court scientists and lobby payers, scientists collaborating with industry, key opinion leaders involved with clinical practice guidelines, lobbyists and consultants), constitute an 'invisible college' that navigates the governance of test adoption. The formations and negotiations over standards for NIPT identified in this paper comprise a new institutional norm: a polycentric regulatory regime permeated by commercial interests. The institutionalization of this regime has implications for accountability, transparency and test quality amidst a proliferation of new proprietary molecular tests.' • A case study of mechanisms governing the dissemination of NIPT in the US. • Private actors tied to the manufacturers of NIPT constitute an invisible college. • These actors engage in various levels of knowledge production. • The invisible college navigates test adoption in a regulatory regime.. • This regime has implications for accountability, transparency and test quality. [ABSTRACT FROM AUTHOR]