Aspects of the current practice of prenatal diagnostics in Russia are surveyed. In the light of this, various ethical concerns are highlighted: (1) the requirement of parental informed consent to testing is not always sufficiently respected either in state regulation or in the practice of physicians; (2) not all Russian physicians are aware of international guidelines or standards of good practice in areas such as non-directive counselling, patient confidentiality with respect to genetic information and the patient’s right to (...) maintain control over his or her information; (3) abortion is viewed increasingly as an aspect of preventive medicine. (shrink)

In Sri Lanka, termination of pregnancy, other than in extreme circumstances, is strictly illegal. Among the public and large sections of the medical community there is widespread support for some degree of liberalization of the law, particularly where this relates to serious genetic conditions which can be identified prenatally. Tension emerges out of a publicly maintained conservatism on issues of abortion on the one hand and a growing disconnection from unregulated practices of termination in the private sector on the other. (...) Social science approaches have much to contribute when understanding the ‘therapeutic gap’ that opens up and, in particular, the way that local ideas of fate, destiny and how suffering might be ameliorated become blended with the predictive power of genetic testing. (shrink)

Jürgen Habermas has argued that religious views form a legitimate background for contributions to an open public debate, and that religion plays a particular role in formulating moral intuitions. Translating religious arguments into “generally accessible language” (Habermas, Eur J Philos 14(1):1–25, 2006) to enable them to play a role in political decisions is a common task for religious and non-religious citizens. The article discusses Habermas’ view, questioning the particular role of religion, but accepting the significance of including such counter-voices to (...) the predominant views. Furthermore it is pointed out that not only religious but also numerous secular views stand in need of translation to be able to bear on policy matters. Accepting Habermas’ general framework, I raise the question whether experts (such as clinicians working in relevant specialised areas of care) participating in political debates on biomedical issues have a duty to state their religious worldview, and to what extent the American government decision to restrict embryo stem cell research is an illegitimate transgression of the State-Church divide. (shrink)

This paper presents a procedure designed to aid physicians and patients in the process of making medical decisions, and illustrates its implementation to aid pregnant women, who decided to undergo prenatal diagnostic test choose a physician to administer it. The procedure is based on a medical decision-making model of Karni (J Risk Uncertain 39: 1–16, 2009). This model accommodates the possibility that the decision maker’s risk attitudes may vary with her state of health and incorporates other costs, such as (...) pain and inconvenience, associated with alternative treatments. The medical decision problem was chosen for its relative simplicity and the transparency it affords. (shrink)

Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk‐assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery.Recent (...) developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non‐invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable.This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent ‘reproductive autonomy’ is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy‐related problems, non‐directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue. (shrink)

Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. (...) Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent ‘reproductive autonomy’ is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue. (shrink)

Alarm over the prospect that prenatal diagnostic techniques, which permit identification of fetal sex and facilitate abortion of healthy but unwanted female fetuses has led some to urge their outright prohibition. This article argues against that response. Prenatal diagnosis permits timely action to preserve and enhance the life and health of fetuses otherwise endangered, and, by offering assurance of fetal normality, may often encourage continuation of pregnancies otherwise vulnerable to termination. Further, conditions in some societies may sometimes render (...) excusable the inclination to abort certain healthy female fetuses. In places where abortion for fetal sex alone is recognised as unethical, however, medical licensing authorities already possess the power to discipline, for professional misconduct, physicians who prescribe or perform prenatal diagnosis purely to identify fetal sex, or those who disclose fetal sex when that is unrelated to the fetus's medical condition. (shrink)

Prenatal Diagnosis (PD) includes diagnostic procedures carried out during the antenatal period, together with Preconception Screening (PS) of prospective parents, and prenatal genetic diagnosis (PGD). The purpose of all these procedures is to provide prospective parents with opportunities to decide whether or not to have a child who will be diseased or disabled. Selection decisions determine what kinds of children are brought into existence; the ability to make these decisions is of huge ethical significance. It raises connected questions (...) about discrimination, the social status of disabled people and the medicalisation of disability; patient vulnerability and the power of the medical and counselling professions to influence decision-making; and the conceptualisation of selection as a public health measure and even as eugenic. In this paper, I outline the ethical issues raised by prenatal diagnosis and describe some of the arguments which have been elaborated in relation to the permissibility of selecting against (and occasionally for) diseases and disabilities. I conclude that there are no good arguments against the prevention of disability through PD but that providing adequate information for decision-making and facilitating uncoerced individual decisions requires further attention. (shrink)

The development of new methods in the field of prenatal testing leads to an expansion of information that needs to be provided to expectant mothers. The aim of this research is to explore opinions and attitudes of gynecologists in Germany, Poland and Russia towards access to prenatal testing and diagnostics in these countries. Semi-structured interviews were conducted with n = 18 gynecologists in Germany, Poland and Russia. The interviews were analyzed using the methods of content analysis and (...) thematic analysis. Visible in all three countries is a connection of prenatal medicine with the politically and socially contentious issue of pregnancy termination. Respondents in Poland and Russia concentrated on the topic of inadequate resources. Quality of information for expectant mothers is an important point in all three countries. Only in Germany was the issue of language barriers in communication raised. With regard to non-invasive prenatal testing (NIPT) respondents in Germany focused on the ethical issues of routinization of testing; in Poland and Russia they concentrated on fair access to NIPT. Challenges in all three countries arise from structural factors such as imprecise and prohibitive regulations, lack of resources or organization of healthcare services. These should be addressed on a political and medico-ethical level. (shrink)

BackgroundThe introduction and wide application of non-invasive prenatal testing (NIPT) has triggered further evolution of routines in the practice of prenatal diagnosis. ‘Routinization’ of prenatal diagnosis however has been associated with hampered informed choice and eugenic attitudes or outcomes. It is viewed, at least in some countries, with great suspicion in both bioethics and public discourse. However, it is a heterogeneous phenomenon that needs to be scrutinized in the wider context of social practices of reproductive genetics. In (...) different countries with their different regulatory frameworks, different patterns of routines emerge that have different ethical implications.This paper discusses an ethics of routines informed by the perspectives of organizational sociology and psychology, where a routine is defined as a repetitive, recognizable pattern of interdependent organizational actions that is carried out by multiple performers. We favour a process approach that debunks the view – which gives way to most of the concerns – that routines are always blindly performed. If this is so, routines are therefore not necessarily incompatible with responsible decision-making. Free and informed decision-making can, as we argue, be a key criterion for the ethical evaluation of testing routines. If free and informed decision-making by each pregnant woman is the objective, routines in prenatal testing may not be ethically problematic, but rather are defensible and helpful. We compare recent experiences of NIPT routines in the context of prenatal screening programmes in Germany, Israel and the Netherlands. Notable variation can be observed between these three countries (i) in the levels of routinization around NIPT, (ii) in the scope of routinization, and (iii) in public attitudes toward routinized prenatal testing.ConclusionAn ethics of routines in the field of prenatal diagnostics should incorporate and work with the necessary distinctions between levels and forms of routines, in order to develop sound criteria for their evaluation. (shrink)

The development of genomic technologies has seemed almost magical. Excitement about it, both in medicine and among the public, stems from the belief that genomic techniques will illuminate the causes of health and disease, will lead to effective interventions for both rare and common genetic conditions, and will inform reproductive decision‐making. Novel diagnostic tools, however, are often deployed before targeted therapies are developed, tested, or available and before their psychosocial implications are explored. Newer technologies such as prenatal whole exome (...) screening are seen as offering “decisional autonomy” to expectant parents, although such technologies identify information about genetic sequencing that may not have clear meaning. The “therapeutic gap” between the ability to conduct genetic sequencing and the ability to fully understand what the test results mean, much less what treatments to offer, leaves families with complex and unclear information they cannot act upon with confidence during pregnancy. In this essay, we will consider the psychosocial and ethical implications of such assumptions—and of the uncertain information produced by these technologies—for individuals and families and for societal aspects such as medical service usage and demographic inequities. (shrink)

Ethics cannot present a positive judgement for that which there is no consensus within our pluralistic society. As a result, "Do good and avoid evil" is proposed as the orienting principie for action. The later part (of the article) deals whit prenatal diagnostics, specifically the good contribution and bad utilizations of prenatal diagnostics employed by parents.

For decades questionnaires have been used to measure the cognitive and psychological effects of prenatal genetic testing, but little is known about why some women undergo testing and others decline. Research indicates that many factors influence decision making, including values and beliefs. What is often denied rather than recognized is that the professional and personal values and beliefs held by the health care provider influence the patient’s decision. It is assumed that, if genetic services are delivered in a nondirective (...) manner, patients will not be affected by the provider’s personal and professional standpoint. The qualitative research data reported here challenge this assumption. Getting to know patients’ moral understanding and patterns of ethical reasoning by listening to their personal stories is recommended as a better way for nurses to help patients to make informed and autonomous decisions about prenatal genetic screening or diagnostic tests. (shrink)

Background: Noninvasive prenatal testing (NIPT) is a new prenatal screening technology that became commercially available in the United States in 2011. NIPT's increased accuracy and low false positive rate compared to previous screening methods enable many women to avoid invasive diagnostic testing and receive much desired reassurance. NIPT has received much attention for both its benefits and drawbacks. Methods: Observation of genetic counseling sessions and qualitative interviews with women offered NIPT at a large academic medical center were conducted. (...) Two ethnographic cases studies derived from the overall data set are used to illustrate the study findings. Results: Many fundamental ethical questions about prenatal screening, such as abortion or the value of disabled children, often do not emerge during clinical sessions, enabling most women to defer thinking about these issues until the future, when and if the need should arise. It may only be in the rare case when a woman receives a positive test result that she may be forced to confront ethical issues that she had up until then been able to avoid. Conclusions: Women want, and are grateful to have, access to NIPT, which offers much desired reassurance. This desire for reassurance may come at the expense of having contemplated the potential negative outcomes and limitations of testing. In the rare circumstance where women do not receive reassuring results, they may be unprepared and shocked by what NIPT can and cannot reveal. The routinization of NIPT as the latest and best available prenatal screening test does not necessarily create new ethical issues, but this study highlights ethical continuities following its arrival. However, the continued expansion of NIPT to include more conditions and women will increase the number of women who receive positive results, including false positives, and who may be shocked and unprepared as a result. (shrink)

Sequenom Inc., a developer of medical diagnostic products, recently made their noninvasive test for Down syndrome available for clinical practice.1 The DNA-based test—given the name “MaterniT21”—requires only a simple maternal blood sample as early as 10 weeks of gestation. In recent clinical trials involving thousands of pregnant women, the MaterniT21 test identified 99.1% of cases of Down syndrome, and gave the correct result in 99.9% of cases when the fetus did not have Down syndrome. Sequenom’s test is thought to be (...) an improvement on previous prenatal testing techniques because of its. (shrink)

BackgroundThe increased risk of developing attention-deficit hyperactivity disorder (ADHD) in extremely preterm infants is well-documented. Better understanding of perinatal risk factors, particularly those that are modifiable, can inform prevention efforts.MethodsWe examined data from the Extremely Low Gestational Age Newborns (ELGAN) Study. Participants were screened for ADHD at age 10 with the Child Symptom Inventory-4 (N = 734) and assessed at age 15 with a structured diagnostic interview (MINI-KID) to evaluate for the diagnosis of ADHD (N = 575). We studied associations (...) of pre-pregnancy maternal body mass index (BMI), pregestational and/or gestational diabetes, maternal smoking during pregnancy (MSDP), and hypertensive disorders of pregnancy (HDP) with 10-year and 15-year ADHD outcomes. Relative risks were calculated using Poisson regression models with robust error variance, adjusted for maternal age, maternal educational status, use of food stamps, public insurance status, marital status at birth, and family history of ADHD. We defined ADHD as a positive screen on the CSI-4 at age 10 and/or meeting DSM-5 criteria at age 15 on the MINI-KID. We evaluated the robustness of the associations to broadening or restricting the definition of ADHD. We limited the analysis to individuals with IQ ≥ 70 to decrease confounding by cognitive functioning. We evaluated interactions between maternal BMI and diabetes status. We assessed for mediation of risk increase by alterations in inflammatory or neurotrophic protein levels in the first week of life.ResultsElevated maternal BMI and maternal diabetes were each associated with a 55–65% increase in risk of ADHD, with evidence of both additive and multiplicative interactions between the two exposures. MSDP and HDP were not associated with the risk of ADHD outcomes. There was some evidence for association of ADHD outcomes with high levels of inflammatory proteins or moderate levels of neurotrophic proteins, but there was no evidence that these mediated the risk associated with maternal BMI or diabetes.ConclusionContrary to previous population-based studies, MSDP and HDP did not predict ADHD outcomes in this extremely preterm cohort, but elevated maternal pre-pregnancy BMI, maternal diabetes, and perinatal inflammatory markers were associated with increased risk of ADHD at age 10 and/or 15, with positive interaction between pre-pregnancy BMI and maternal diabetes. (shrink)

BackgroundThe clinical introduction of non-invasive prenatal testing for fetal aneuploidies is currently transforming the landscape of prenatal screening in many countries. Since it is noninvasive, safe and allows the early detection of abnormalities, NIPT expanded rapidly and the test is currently commercially available in most of the world. As NIPT is being introduced globally, its clinical implementation should consider various challenges, including the role of the surrounding social and cultural contexts. We conducted a qualitative study with healthcare professionals (...) in Lebanon and Quebec as case studies, to highlight the relevance of cultural contexts and to explore the concerns that should be taken into account for an ethical implementation of NIPT.MethodsWe conducted semi-structured interviews with 20 healthcare professionals (HCPs), 10 from each country, practicing in the field of prenatal screening and follow up diagnostic testing, including obstetricians and gynecologists, nurses, medical geneticists and, genetic counselors. We aimed to 1) explore HCPs’ perceptions and views regarding issues raised by NIPT and 2) to shed light on ways in which the introduction of the same technology (NIPT) in two different contexts (Lebanon and Quebec) raises common and different challenges that are influenced by the cultural norms and legal policies in place.ResultsWe identified challenges to the ethical implementation of NIPT. Some are common to both contexts, including financial/economic, social, and organizational/ educational challenges. Others are specific to each context. For example, challenges for Lebanon include abortion policy and financial profit, and in Quebec challenges include lobbying by Disability rights associations and geographical access to NIPT.ConclusionsOur findings highlight the need to consider specific issues related to various cultural contexts when developing frameworks that can guide an ethically sound implementation of NIPT. Further, they show that healthcare professional education and training remain paramount in order to provide NIPT counseling in a way that supports pregnant women and couples’ choice. (shrink)

Recently, an agonizing twist intersecting predictive genetic tests and surrogacy contracts made news headlines in Canada. The intended parents, a couple from British Columbia, instructed the surrogate mother with whom they were working to undergo First Trimester Screening and Chorionic Villi Sampling, which revealed the fetus likely had Down syndrome. The parents directed the surrogate to terminate the fetus or they would abdicate their parental claim upon birth. This story raised numerous legal and ethical questions relating to the transferability of (...) decision making for prenatal screening, diagnostic tests, and the connected decision of termination when additional interested parties – the intended parents – are involved in the medical decision-making relationship. First, although the surrogate is the patient, what are the implications when the intended parents' wishes influence or even dictate the relationship between her and her obstetrician and genetic counselor? Second, if the intended parents' level of authority reaches explicit demands, may the intended parents ethically and legally require the surrogate to waive her right to informed consent for prenatal screening and diagnosis? (shrink)

The clinical relevance of whole-exome sequencing is unquestionable. In the prenatal setting, the standard testing process of reflexing from karyotype to microarray to single-gene disorders may take several weeks, leaving a family in prolonged turmoil and often without answers in time to make a decision about the pregnancy. WES provides a powerful amount of data more quickly and with a higher yield of diagnostic results, allowing a timelier plan for medical management and decision-making. However, while results that pertain specifically (...) to the testing indication can be isolated, the potential for incidental findings or results that are unrelated to the original testing indication is significant. In 2013, ACMG published recommendations for reporting incidental or secondary findings, providing a list of 57 clinically actionable genes for which reporting should be obligatory. These recommendations were updated in 2015 to include the option to opt out of receiving all secondary findings. The list includes childhood-onset conditions, for which medical management would be immediately impacted. However, the list also includes adult-onset conditions such as hereditary breast and ovarian cancer and Lynch syndrome. Historically, decisions regarding genetic testing for these conditions have been left up to the individual until they reach the age of consent. While the 2015 recommendations are an improvement over the 2013 recommendations insofar as they allow an option to opt out of receiving secondary findings, the recommendations continue to have potentially troubling ethical consequences. (shrink)

Prenatal diagnostic technologies have been used for the purpose of detecting sex—leading to abortion of female fetuses—and have posed new challenges to the already difficult question of social justice for women in India. This article reports findings from a case study conducted with 25 women who had used prenatal diagnostic technologies for sex determination.Against the common belief that Indian society is “improving” because of 21st-century medical technology, this case study shows that the social context has given a patriarchal (...) value to such advanced technology in India. Furthermore, it sheds light on why prenatal diagnostic technologies have taken a different route in India.It shows that reasons for accepting the use of prenatal diagnostic technologies for sex determination by women are diverse and complex. (shrink)

Should parents be able to select the sexual orientation of their children, if that were possible through prenatal interventions? _Ethics, Sexual Orientation, and Choices about Children_ reviews the history of this debate which started in the 1970s and has been invigorated by scientific reports about the origins of sexual orientation. This book describes the debate and offers an evaluation of key issues in parental rights, children's rights, and family welfare.

Nondirectiveness is widely regarded as an important principle of genetic counseling. However, numerous studies have indicated that the use of this principle and its content itself are subject to controversies. The present study aimed to verify how the nondirectiveness principle is defined by Polish geneticists, the extent to which it is considered the main principle in clinical practice, and the situations in which geneticists see the positive value of the directive action. Using quantitative and qualitative methods, the study compared the (...) abstract declarations of the directiveness validity and the scope of this principle with the declaration of action in situations close to reality (case scenarios). The results showed that the high rank assigned to the nondirectiveness principle does not translate into the conviction about the absolute obligation to use it in clinical practice. Polish geneticists are inclined to restrict the scope of patients’ choices when these are outside of their definition of medical standard. Strong medical paternalism manifests itself particularly in invasive prenatal diagnostics, where geneticists play the role of gatekeepers. In this study, we offer hypotheses about the sources of these attitudes by analyzing the current cultural and legal context of Poland. (shrink)

In this paper, I focus on feminist protests (exemplary, in Argentina and Poland) defending women's right to access to prenatal diagnostics and abortion, which I reflect upon from the perspective of Hannah Arendt's theory of politics. After briefly referring to Arendt's difficult relationship with feminism, linking it to the struggle of Argentinian women for legalizing abortion, I look at Arendt's theorizing of the body in and beyond the private. I then argue for politicization of abortion as extrinsically enforced (...) and rethink the role of the private in the context of abortion regulations and practices. In the closing section of my paper, I offer a micronarrative of the feminist street protests in Poland, and discuss it as an example of feminist revolutionary moment. (shrink)

This article deals with theological criterions of medical ethics which depends on biblical anthropology and Christian doctrine for the Creation. It criticizes the assertion that life is not disposible as an example of wrong deduction from is to ought. The article also deals with the concept of person and the moral status of embryos and discusses the consequences for medical genetics and prenatal diagnostics.

This study examines recent French bioethics laws governing the uses of new reproductive and genetic technologies (NRGTs)—including in-vitro fertilization, surrogate motherhood, prenatal diagnostics, sex selection, and cloning—in light of feminist claims to women's rights, especially a woman's right to reproductive freedom. To this end, the study explores two interrelated questions: First, to what extent have French feminists supported NRGT development and treatment? Second, to what extent do French national bioethics debates, laws, and policies reflect feminist reactions to NRGTs? (...) The investigation of these questions is informed by recent theories of state feminism that show how national policy debates are gendered by particular sets of feminist ideas, and how policy choices resulting from these debates turn some of these ideas into law (McBride Stetson and Mazur 1995). Some of the most pressing feminist concerns in this area include women's loss of control over their bodies and fertility, women's exploitation and commercialization of their bodies, and women's health risks from NRGTs. The analysis of pronouncements by French feminist writers, researchers, and policy-makers reveals a multiplicity of feminist stances on NRGTs, showing keenly how feminists contest what constitutes effective feminist public policies to illuminate the fact that these policies are subject to shifting political contestations, rather than the reflection of a fixed set of feminist ideas. While contemporary French feminists grapple with the potential merits and dangers of NRGTS, the study shows that feminists generally seem to support NRGTs, as long as French law protects women's reproductive autonomy. Seen in this light, France's strong sense of the right to procreate through facilitation of access to NRGTs is not a contradiction of France's strong social and legal support for women's reproductive freedom, but rather enables French lawmakers to regulate NRGTs more effectively. (shrink)

This study examines recent French bioethics laws governing the uses of new reproductive and genetic technologies —including in-vitro fertilization, surrogate motherhood, prenatal diagnostics, sex selection, and cloning—in light of feminist claims to women’s rights, especially a woman’s right to reproductive freedom. To this end, the study explores two interrelated questions: First, to what extent have French feminists supported NRGT development and treatment? Second, to what extent do French national bioethics debates, laws, and policies reflect feminist reactions to NRGTs? (...) The investigation of these questions is informed by recent theories of state feminism that show how national policy debates are gendered by particular sets of feminist ideas, and how policy choices resulting from these debates turn some of these ideas into law. Some of the most pressing feminist concerns in this area include women’s loss of control over their bodies and fertility, women’s exploitation and commercialization of their bodies, and women’s health risks from NRGTs. The analysis of pronouncements by French feminist writers, researchers, and policy-makers reveals a multiplicity of feminist stances on NRGTs, showing keenly how feminists contest what constitutes effective feminist public policies to illuminate the fact that these policies are subject to shifting political contestations, rather than the reflection of a fixed set of feminist ideas. While contemporary French feminists grapple with the potential merits and dangers of NRGTS, the study shows that feminists generally seem to support NRGTs, as long as French law protects women’s reproductive autonomy. Seen in this light, France’s strong sense of the right to procreate through facilitation of access to NRGTs is not a contradiction of France’s strong social and legal support for women’s reproductive freedom, but rather enables French lawmakers to regulate NRGTs more effectively. (shrink)

Die Pränatalmedizin kann neben optimaler Therapie und Geburtsplanung auch Entscheidungshilfe zum Fortsetzen oder Beenden einer Schwangerschaft geben. Nach einer diagnostizierten schweren fetalen Fehlbildung stimmt retrospektiv etwa ein Drittel der Frauen ihrer Entscheidung zum Verlauf (Austragen versus Schwangerschaftsabbruch) nicht mehr umfassend zu, ein weiteres Drittel ist sehr verunsichert. Welchen Einfluss hat das Lebensumfeld der Schwangeren auf ihre Entscheidung in dieser existenziellen Situation? Wie werden die getroffene Entscheidung und die damit verbundenen Erfahrungen nach Abschluss der Schwangerschaft bewertet? Was kann aus Sicht der (...) Betroffenenperspektive von Medizinern erwartet werden? Es wurden problemzentrierte teilnarrative Interviews mit 11 Frauen geführt. Einschlusskriterium war eine abgeschlossene Schwangerschaft mit pränatal diagnostizierter schwerer fetaler Fehlbildung, die eine Entscheidung zum Austragen oder Beendigen nach medizinischer Indikationsstellung und im gesetzlichen Rahmen zuließ. Die Auswertung der transkribierten Interviews erfolgte mittels qualitativer Inhaltsanalyse nach Mayring, computergestützt durch die Software ATLAS.ti. Die Zufriedenheit mit der Entscheidung im Rückblick ergibt sich aus der individuellen Lösung eines bestehenden Konfliktes zwischen der Grundhaltung zum Leben (eigene Erfahrungen, Vorwissen und Werte) und dem tatsächlich vorhandenen Lebensumfeld (Lebensplanung, Familie, finanzielle Aspekte). Entsprechend der individuellen Bewertung der Erfahrungen wurden 4 Prototypen klassifiziert. Frauen mit starkem Grundkonflikt erlebten die Geburt eher negativ und litten länger unter psychopathologischen Symptomen. Eine ausreichend lange Bedenkzeit sowie ein positives und akzeptierendes Entscheidungsumfeld (Patient-Arzt-Kommunikation, angemessene psychosoziale Begleitung) trugen deutlich zur Zufriedenheit der Befragten bei. Aus Sicht der betroffenen Frauen werden Erwartungen an Pränatalmediziner weitergegeben. (shrink)

ABSTRACT The part played by time in ethics is often taken for granted, yet time is essential to moral decision making. This paper looks at time in ethical decisions about having a genetic test. We use a patient‐centred approach, combining empirical research methods with normative ethical analysis to investigate the patients' experience of time in (i) prenatal testing of a foetus for a genetic condition, (ii) predictive or diagnostic testing for breast and colon cancer, or (iii) testing for Huntington's (...) disease (HD). We found that participants often manipulated their experience of time, either using a stepwise process of microdecisions to extend it or, under the time pressure of pregnancy, changing their temporal ‘depth of field’. We discuss the implications of these strategies for normative concepts of moral agency, and for clinical ethics. (shrink)

Recent scientific advances mean the widespread introduction of non-invasive prenatal diagnosis (NIPD) for chromosomal aneuploidies may be close at hand, raising the question of how NIPD should be introduced as part of antenatal care pathways for pregnant women. In this paper, the authors examine the ethical implications of three hypothetical models for using NIPD for aneuploidy in state-funded healthcare systems and assess which model is ethically preferable. In comparing the models, the authors consider their respective timings; how each model (...) would fit with current screening and diagnostic tests offered to pregnant women; the implications of offering NIPD at different stages of pregnancy; and the potential for each model to support reproductive autonomy and informed decision-making. The authors conclude by favouring a model that would be offered at 11–13 weeks gestation, alongside existing combined screening, provided that this is accompanied by measures to maximise informed decision-making, for example, provision of adequate pretest and post-test counselling. (shrink)

In a project The Hastings Center is now running on the future of prenatal testing, we are encountering clear examples, both in established law and in the practices of individual providers, of failures to respect women's reproductive autonomy: when testing is not offered to certain demographics of women, for instance, or when the choices of women to terminate or continue pregnancies are prohibited or otherwise not supported. But this project also raises puzzles for reproductive autonomy. We have learned that (...) some clinicians and patients do not discuss the fact that prenatal testing can lead to a decision about whether to terminate a pregnancy—they just don't talk about it. And while the decision whether to agree to prenatal screening and diagnostic testing is to be made with women's free and informed consent, many screening tests have been routinized in such a way that some women do not even recall agreeing to testing, while others feel that agreeing to testing is what their clinicians expect of them or that the testing is necessary to protect themselves and their families from the significant financial hardship of raising a child with a disability. In the face of these pressures, can one really say that women are freely choosing to undergo testing or are freely choosing to continue or terminate a pregnancy following receipt of test results? The reality of these pressures is requiring us to consider expanding the scope of our investigation beyond the clinical encounter to the broader context—to think harder about what reproductive autonomy means and how best to enhance it. (shrink)

Artikkelen undersøker hvordan NIPT ble vedtatt implementert i det norske fosterdiagnostiske systemet gjennom en fagligpolitisk prosess mellom 2012 og 2017. Prosessen innebar at Nasjonalt kunnskapssenter for helsetjenesten, Helsedirektoratet, Bioteknologirådet og Helse- og Omsorgsdepartementet ga sine vurderinger av testen og sine råd omkring en eventuell innføring. Artikkelen viser at det i denne prosessen foregikk en forsiktig tilnærming eller sammensmelting mellom de tradisjonelt helt ulike måtene å forstå og å ramme inn fosterdiagnostikk på i Norge, dvs. i en ‘autonomi/ behandlingsramme’ og en (...) ‘sorteringsramme’. Artikkelen argumenterer videre for at denne tilnærmingen eller konvergensen var mulig fordi prosessen ble holdt innenfor de fagligpolitiske byråkratiene, og de ulike etatene var innstilt på å ‘samarbeide’ om å inkludere både kunnskap og verdier fra begge rammene i sine tilrådninger. Politikk for fosterdiagnostikk er imidlertid et svært politisk betent område i Norge, og denne konvergensen var et skjørt byggverk. Den sprakk da også opp i løpet av tre uker i mai 2020, da Fremskrittspartiet plutselig inngikk et ‘bioteknologiforlik’ med Arbeiderpartiet og SV etter at de hadde gått ut av Solbergregjeringen. Dermed endte spørsmålet om implementeringen av NIPT i Stortinget, hvor konvergensen i den fagpolitiske prosessen ble erstattet av de tradisjonelle frontene, og de gamle innrammingene igjen ble ‘satt i arbeid’. Artikkelen diskuterer avslutningsvis kort de bortimot uløselige dilemmaene disse innrammingene både representerer og produserer. Nøkkelord: NIPT, fosterdiagnostikk, humanmedisinsk bioteknologi, regulering English Title: Fetal diagnostics between medicine and ethics: Implementation of Prenatal Invasive Testing in a turbulent policy area: The article examines how the decision to implement Prenatal Invasive Testing in the Norwegian Fetal Diagnostic System was reached through a professional policy process between 2012 and 2017. The process involved the Norwegian Research Centre for Health Services, the Norwegian Directorate of Health, the Norwegian Biotechnology Advisory Board and the Ministry of Health and Care Services, which provided their individual assessments and advice regarding the potential implementation of the test. The article finds that a careful convergence took place between traditionally opposing ways to understand and frame fetal diagnostics in Norway – either as a ‘treatment frame’ or a ‘sorting frame’. The article further argues that this convergence was possible because the process was kept within these bureaucracies, and that the different agencies were willing to collaborate to include knowledge and values from both frames in their recommendations. However, policy for fetal diagnostics is a very turbulent political area in Norway, and this convergence was a fragile construction. During three weeks in May 2020, the convergence collapsed when the Norwegian Progress Party suddenly entered a “biotechnology settlement” with the Labour Party and the Socialist Left Party after exiting the conservative Government coalition. Hence, the question of implementing NIPT ended up in the Norwegian Parliament, where the convergence from the professional policy process was replaced by the traditional fronts, and the old framings were again set in motion. Lastly, the article briefly discusses the almost unsolvable dilemmas these framings both produce and represent. Keywords: NIPT, non-invasive prenatal testing, fetal diagnostics, medical biotechnology, regulation. (shrink)

Zika virus was recognised in 2016 as an important vector-borne cause of congenital malformations and Guillain-Barré syndrome, during a major epidemic in Latin America, centred in Northeastern Brazil. The WHO and Pan American Health Organisation, with partner agencies, initiated a coordinated global response including public health intervention and urgent scientific research, as well as ethical analysis as a vital element of policy design. In this paper, we summarise the major ethical issues raised during the Zika epidemic, highlighting the PAHO ethics (...) guidance and the role of ethics in emergency responses, before turning to ethical issues that are yet to be resolved. Zika raises traditional bioethical issues related to reproduction, prenatal diagnosis of serious malformations and unjust disparities in health outcomes. But the epidemic has also highlighted important issues of growing interest in public health ethics, such as the international spread of infectious disease; the central importance of reproductive healthcare in preventing maternal and neonatal morbidity and mortality; diagnostic and reporting biases; vector control and the links between vectors, climate change, and disparities in the global burden of disease. Finally, there are controversies regarding Zika vaccine research and eventual deployment. Zika virus was a neglected disease for over 50 years before the outbreak in Brazil. As it continues to spread, public health agencies should promote gender equity and disease control efforts in Latin America, while preparing for the possibility of a global epidemic. (shrink)

Medical science at its core aims to preserve health and eliminate disease, but a common theme in scientific discovery is the application of findings in ways that were not the primary intent. The development of diagnostic modalities to predict the health of resulting children has been a fundamental aim underpinning research into prenatal and preimplantation diagnostic modalities; however, the knowledge gained has in some cases been utilized for nonmedical purposes. As an example, amniocentesis developed to determine whether the pregnancy (...) is chromosomally normal also provides information about the sex of the fetus, which normally does not affect health. The emerging gene‐editing technologies that could be used to repair mutated disease‐causing genes in an embryo will presumably also be able to be used to alter traits unrelated to disease. And yet, I will argue, the desire to preserve the mystery of reproduction remains a central value in humans’ quest to reproduce. This yearning to maintain the mysteries will likely temper the development of strategies to alter our genome and affect the genetic identities of our offspring. In my experience as an obstetrician and reproductive endocrinology and infertility subspecialist, people want to have, not the best possible baby, but rather their own baby. (shrink)

The increasing availability of DNA-based diagnostic tests has raised issues about whether these should be applied to the population at large in order to identify, treat or prevent a range of diseases. DNA tests raise concerns in the community for several reasons. There is the possibility of stigmatisation and discrimination between those who test positive and those who don't. High-risk individuals may be identified for whom no proven effective intervention is possible, or conversely may test "positive" for a disease that (...) does not eventuate. Controversy concerning prenatal diagnosis and termination of affected pregnancies may arise. Haemochromatosis, however, is a disease that is not only treatable but also preventable if those at high risk are identified presymptomatically. This paper will identify and discuss key issues regarding DNA-based population screening for haemochromatosis, and argue that population-based genetic screening for haemochromatosis should be supported when a number of contentious issues are addressed. In the context of a health system with limited resources haemochromatosis is the paradigm of a disorder where there is an ethical and clinical imperative to encourage presymptomatic DNA testing for all in ethnically relevant communities. (shrink)

In response to both scientific and individualistic pressures, the law is increasingly giving in to the temptation of eugenics and transhumanism, encouraging the elimination of ‘undesirable’ embryos and genetic manipulation that will eventually lead to the modification of humanity.

Background: Treatment of psychotic disorders in pregnancy is often ethically and clinically challenging, especially when psychotic symptoms impair decision-making capacity. There are several competing ethical obligations to consider: the ethical obligation to maternal autonomy, the maternal and fetal beneficence-based obligations to treat peripartum psychosis, and the fetal beneficence-based obligation to minimize teratogenic exposure. Objective: This article outlines an ethical framework for clinical decision-making for the management of chronic psychosis in pregnancy, with an emphasis on special considerations in the previable and (...) periviable period. Case Presentation: A 31-year-old gravida 2, para 1 with intrauterine pregnancy at 12 weeks and 4 days gestation was brought to the emergency department by her husband seven months after delivering her first child, due to sudden onset of behavioral changes that included self-isolation, not eating, and not taking care of her child. Her past medical history included hypothyroidism and inflammatory bowel disease, but no prior psychiatric illness. After being admitted to the psychiatric hospital, she continued to have poor oral intake and weight loss despite initial inpatient treatment with antipsychotics, levothyroxine, and discontinuation of corticosteroids. Her pregnancy was also complicated by the diagnosis of multiple fetal anomalies at 20 weeks gestation, when the fetus was periviable. Conclusions: For previable or periviable pregnancies, the patient and/or surrogate should decide whether to pursue prenatal genetic screening and invasive diagnostic testing, as well as whether to continue or terminate the pregnancy. When the choice is made to continue the pregnancy, initiation of long-term psychiatric treatment (including medications with potential adverse fetal effects) should be based on shared decision-making between the physician and the patient and/or surrogate. Although some pharmacologic interventions may have potential adverse effects on the developing fetus, the use of psychotropic medications can be ethically justified, even if the patient herself does not have the capacity to consent and requires a surrogate, when the goal is to restore maternal autonomy and minimize the risks of maternal and fetal harm from untreated psychiatric illness. (shrink)

Am 1. Februar 2010 ist das Gendiagnostikgesetz (GenDG) in Kraft getreten. Die Debatte um einige Regelungsbereiche, wie beispielsweise das Neugeborenenscreening, reißt nicht ab. Ein Aspekt des Gesetzes ist im Rahmen der Debatte um die Präimplantationsdiagnostik (PID) in Deutschland unter neuen Vorzeichen zu diskutieren: Das – international bislang einzigartige – Verbot der pränatalen Diagnostik so genannter spätmanifestierender Erkrankungen, die erst nach der Vollendung des 18. Lebensjahres ausbrechen. In diesem Beitrag möchten wir Hinweise zur differenzierten Diskussion dieser in § 15(2) GenDG bestimmten (...) Verbotsnorm liefern. Obgleich Argumente, insbesondere das Recht auf Nichtwissen des geborenen Kindes, für ein solches Verbot sprechen, kommen wir aufgrund der medizinischen Sachlage und nach einer Analyse der Pro- und Kontraargumente aus ethischer und rechtlicher Sicht zu dem Schluss, dass ein generelles Verbot der pränatalen Diagnostik spätmanifestierender Erkrankungen im Sinne der Zielsetzung womöglich insuffizient ist sowie in der Begründung Inkonsistenzen zum bereits bestehenden Regelwerk aufweist, und lenken daher den Blick auf unter Umständen bessere Alternativen. (shrink)

Diagnostic testing can be used for many purposes, including testing to facilitate the clinical care of individual patients, testing as an inclusion criterion for clinical trial participation, and both passive and active surveillance testing of the general population in order to facilitate public health outcomes, such as the containment or mitigation of an infectious disease. As such, diagnostic testing presents us with ethical questions that are, in part, already addressed in the literature on clinical care as well as clinical research (...) (such as the rights of patients to refuse testing or treatment in the clinical setting or the rights of participants in randomized controlled trials to withdraw from the trial at any time). However, diagnostic testing, for the purpose of disease surveillance also raises ethical issues that we do not encounter in these settings, and thus have not been much discussed. In this paper we will be concerned with the similarities and differences between the ethical considerations in these three domains: clinical care, clinical research, and public health, as they relate to diagnostic testing specifically. Via an examination of the COVID-19 case we will show how an appeal to the concept of diagnostic justice helps us to make sense of the (at times competing) ethical considerations in these three domains. (shrink)

Prenatal screening for foetal abnormalities such as Down's syndrome differs from other forms of population screening in that the usual aim of achieving health gains through treatment or prevention does not seem to apply. This type of screening leads to no other options but the choice between continuing or terminating the pregnancy and can only be morally justified if its aim is to provide meaningful options for reproductive choice to pregnant women and their partners. However, this aim should not (...) be understood as maximizing reproductive choice per se. Only if understood as allowing prospective parents to avoid suffering related to living with (a child with) serious disorders and handicaps can prenatal screening be a publicly or collectively funded programme. The alternative of moving prenatal testing outside the healthcare system into the private sector is problematic, as it makes these tests accessible only to those who can afford to pay for it. New developments in prenatal screening will have to be assessed in terms of whether and to what extent they either contribute to or undermine the stated aim of providing meaningful options for reproductive choice. In the light of this criterion, this article discusses the introduction of the new non‐invasive prenatal test (NIPT), the tendency to widen the scope of follow‐up testing, as well as the possible future scenarios of genome‐wide screening and ‘prenatal personalised medicine’. The article ends with recommendations for further debate, research and analysis. (shrink)

Traditionally, two main rationales for the provision of prenatal testing and screening are identified: the expansion of women’s reproductive choices and the reduction of the burden of disease on society. With the number of prenatal tests available and the increasing potential for their widespread use, it is necessary to examine whether the reproductive autonomy model remains useful in upholding the autonomy of pregnant women or whether it allows public health considerations and even eugenic aims to be smuggled in (...) under the smokescreen of autonomy. In this article I argue that if we are serious about upholding women’s autonomy in the context of prenatal testing, what is needed is a model based on a more robust conception of reproductive autonomy, such as the one defended by Josephine Johnston and Rachel Zacharias as ‘reproductive autonomy worth having’. While Johnston and Zacharias put forward a basic outline of this conception, I apply it to the specific case of prenatal testing and show how it responds to objections levelled against the reproductive autonomy model. I argue that adopting this kind of conception is necessary to avoid fundamental challenges to women’s autonomy when it comes to prenatal screening and testing. (shrink)

"In these essays, health care professionals, scholars, and members of the disability community debate the implications of prenatal testing for people with disabilitties and for parent-child relationships generally."--Cover.

Background Noninvasive prenatal testing (NIPT) provides important benefits yet raises ethical concerns. We surveyed Canadian pregnant women and their partners to explore their views regarding pressure to test and terminate a pregnancy, as well as other societal impacts that may result from the routinization of NIPT.Methods A questionnaire was offered (March 2015 to July 2016) to pregnant women and their partners at five healthcare facilities in four Canadian provinces.Results 882 pregnant women and 395 partners completed the survey. 64% of (...) women anticipated feeling no pressure to take the test if it were offered routinely, and 39% were not concerned about routinization leading to increased pressure to terminate a pregnancy of a fetus with Down Syndrome. Regarding other social concerns possibly resulting from routinization, pregnant women were most concerned regarding a reduction in resources available for people with Down Syndrome and their families and least concerned regarding a decrease in the population of people with Down Syndrome.Conclusions Our findings reflect the concerns expressed by pregnant women and their partners, both personal (pressure to test, pressure to terminate) and societal (e.g., regarding potential negative impact on people with disabilities and their families). Even if most women were not concerned about feeling pressured to test due to NIPT routinization, a large minority express concerns that should not be taken lightly. Moreover, a majority of respondents were concerned regarding pressure to terminate pregnancies due to NIPT routinization as well as regarding most societal impacts they were queried on, especially the possible future reduction in resources available for people with DS and their families. Canadian policy-makers should consider these potential negative ramifications of NIPT and ensure that appropriate social policies accompany its implementation. (shrink)