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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]

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: 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]

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]

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]

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: 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]