NIPT for adult-onset conditions: Australian NIPT users' views.

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

An Ethical Analysis of Therapy for Severe Congenital Kidney and Urinary Tract Anomalies.

Technological advancements before and after delivery have greatly altered the counseling of pregnant patients facing a fetal diagnosis of severe oligohydramnios or anhydramnios secondary to congenital anomalies of the kidneys and urinary tract. Once considered a nearly uniformly lethal abnormality, long-term survival may now be possible secondary to prenatal innovations aimed at restoring the amniotic fluid volume and the availability of more advanced neonatal dialysis techniques. However, these available therapies are far from perfect. The procedures are onerous for pregnant patients without a guarantee of success, and families must prepare themselves for the complex life-long medical care that will be necessary for surviving individuals. Multidisciplinary counseling is imperative to help pregnant individuals understand the complexity of these conditions and assist them in exercising their right to informed decision-making. Moreover, as with any developing field of medicine, providers must contend with ethical questions related to the treatment options, including questions regarding patient-hood, distributive justice, and the blurred lines between research, innovation, and standard care. These ethical questions are best addressed in a multidisciplinary fashion with consideration of multiple points of view from various subspecialties. Only by seeing the entirety of the picture can we hope to best counsel patients about these highly complex situations and help navigate the most appropriate care path.

El aborto eugenésico: entre el diagnóstico prenatal y el consentimiento desinformado / Eugenic abortion: between prenatal diagnosis and uninformed consent

El denominado aborto “eugenésico” tiene un extraordinario matiz diferencial frente a las otras moda lidades de aborto legalmente establecidas, que se concreta en el modo en que llega a formarse la decisión de la mujer, que no es previa, sino consecuencia de una información médica recibida sobre el feto; decisión, además, en la que late una clara componente ‘discriminatoria’, puesto que el aborto se produce exclusiva mente por la discapacidad del feto. Esa singularidad exige prestar atención al contexto en que se plantean las decisiones eugenésicas, porque en ellas inciden tres elementos fundamentales que, según se planteen, pueden conducir o no al aborto: en primer lugar, la oportunidad de realizar determinadas pruebas pre natales sin existir factores de riesgo. En segundo lugar, la enorme responsabilidad de los profesionales sanitarios a la hora de informar a los padres sobre el resultado de una prueba prenatal. En tercer lugar, el punto de vista de los futuros padres, que deberían evitar una concepción eugenésica de la paternidad/ maternidad, siendo conscientes de que lo que se está desarrollando en el útero de la mujer es su hijo o hija, no un embrión genérico afectado por anomalías; y que un hijo o hija es una realidad personal, más allá de sus capacidades. El artículo aborda estas tres cuestiones, que convierten al aborto eugenésico en una práctica discriminatoria y evitable, puesto que no se trata de impedir la decisión abortiva de la mujer, sino de refrendar su decisión primaria de continuar con el embarazo a partir de una visión positiva y no eugenésica de la discapacidad (AU)

The so-called “eugenic” abortion has an extraordinary differential nuance compared to the other le gally established modalities of abortion, which is specified in the way the woman’s decision is formed, which is not prior, but a consequence of medical information received about the foetus; a decision, more over, in which there is a clear “discriminatory” component, since the abortion is produced exclusively because of the disability of the foetus. This uniqueness requires attention to the context in which eugenic decisions are made, because they involve three fundamental elements which, depending on how they are made, may or may not lead to abortion: firstly, the opportunity to carry out certain prenatal tests in the absence of risk factors. Secondly, the enormous responsibility of health professionals in informing parents about the results of a prenatal test. Thirdly, the point of view of future parents, who should avoid a eu genic conception of parenthood, being aware that what is developing in the woman’s womb is their son or daughter, not a generic embryo affected by anomalies; and that a son or daughter is a personal reality, beyond his o her capabilities. The paper addresses these three issues, which make eugenic abortion a dis criminatory and avoidable practice, since the aim is not to prevent the woman’s decision to abort, but to endorse her primary decision to continue with the pregnancy on the basis of a positive, non-eugenic view of disability (AU)

Non-invasive prenatal testing in Germany: a unique ethical and policy landscape.

Non-invasive prenatal testing (NIPT) has been available commercially in Europe since approximately 2012. Currently, many countries are in the process of integrating NIPT into their publicly funded healthcare systems to screen for chromosomal aneuploidies such as trisomy 21 (Down syndrome), with a variety of implementation models. In 2019, the German Federal Joint Committee (G-BA), which plays a significant role in overseeing healthcare decisions in Germany, recommended that NIPT be reimbursed through public insurance. Following this recommendation, NIPT will be offered on a case-by-case basis, when a pregnant woman, after being counselled, makes an informed decision that the test is necessary in her personal situation. This model differs significantly from many other European countries, where NIPT is being implemented either as a first-tier screening offer available for all pregnancies, or a contingent screen for those with a high probability of foetal aneuploidy (with varying probability cut-offs). In this paper we examine how this unique approach to implementing NIPT in Germany is produced by an ethical and policy landscape resulting from a distinctive cultural and historical context with a significant influence on healthcare decision-making. Due in part to the specific legal and regulatory environment, as well as strong objections from various stakeholders, Germany did not implement NIPT as a first-tier screen. However, as Germany does not currently publicly fund as standard other forms of prenatal aneuploidy screening (such as combined first trimester screening), neither can it be implemented as a screen contingent on specific probability cut-offs. We discuss how German policy reflects the echoes of the past shaping approaches to new biotechnologies, and the implications of this unique model for implementing NIPT in a public healthcare system.

Professionally responsible management of the ethical and social challenges of antenatal screening and diagnosis of ß-thalassemia in a high-risk population.

Thalassemias are among the most frequent genetic disorders worldwide. They are an important social and economic strain in high-risk populations. The benefit of ß-thalassemia screening programs is growing evident but the capacity to diagnose fetal ß-thalassemia exceeds the treatment possibilities and even when treatment before birth becomes feasible, difficult decisions about the relative risks will remain. This paper can be of practical and ethically justified aid when counseling women about screening, diagnosis, and treatment of ß-thalassemia. It takes in consideration various social challenges, medical issues such as antenatal screening, preimplantation genetic diagnosis, prenatal diagnosis, non-invasive prenatal testing and prenatal therapy. We also describe the Sardinian experience in applying and promoting high-risk population screening and diagnosis programs and future trends in the management of ß-thalassemia.

Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices.

New technologies such as non-invasive prenatal testing (NIPT), capable of analyzing cell-free fetal DNA in the maternal bloodstream, have become increasingly widespread and available, which has in turn led to ethical and policy challenges that need addressing. NIPT is not yet a diagnostic tool, but can still provide information about fetal genetic characteristics (including sex) very early in pregnancy, and there is no denying that it offers valuable opportunities for pregnant women, particularly those at high risk of having a child with severe genetic disorders or seeking an alternative to invasive prenatal testing. Nonetheless, the ethical, legal and social implications (ELSI) include multiple aspects of informed decision-making, which can entail risks for the individual right to procreative autonomy, in addition to the potential threats posed by sex-selective termination of pregnancy (in light of the information about fetal sex within the first trimester), and the stigmatization and discrimination of disabled individuals. After taking such daunting challenges into account and addressing NIPT-related medicolegal complexities, the review's authors highlight the need for an ethically and legally sustainable framework for the implementation of NIPT, which seems poised to become a diagnostic tool, as its scope is likely to broaden in the near future.

Noninvasive Prenatal Testing: Views of Canadian Pregnant Women and Their Partners Regarding Pressure and Societal Concerns.

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.

O feto e o recém-nascido com condições genéticas e congênitas graves: aspectos bioéticos e jurídicos no Brasil / El feto y el recién nacido con condiciones genéticas y congénitas graves: aspectos bioéticos y jurídicos en Brasil / Fetus and newborn with genetic and congenital severe conditions: bioethical and legal aspects in Brazil / El fetus I el nadó amb condicions genètiques I congènites greus: aspectes bioètics I jurídics a Brasil

O diagnóstico seguro de malformações congênitas possibilitado pelo avanço tecnológico da propedêutica fetal possibilita o exercício da autonomia reprodutiva da gestante, embora suscite dilemas éticos e jurídicos de difícil solução, como a opção pelo aborto e a tomada de decisões em neonatos com escassas possibilidades de sobrevivência. As decisões em fim de vida e o abandono de técnicas terapêuticas fúteis que não alteram o curso natural da doença despertam conflitos éticos entre a equipe de saúde e os familiares. Nesse cenário, importa analisar o âmbito de proteção aos direitos das pessoas com deficiência no Brasil e sua aplicação aos neonatos com graves malformações congênitas, visando contribuir ao debate sobre a morte digna no período neonatal

El diagnóstico efectivo de malformaciones congénitas que resulta del avance tecnológico de la propedéutica fetal posibilita el ejercicio de la autonomía reproductiva de la mujer embarazada, aunque presente dilemas éticos y jurídicos de solución difícil, como la opción por el aborto y la toma de decisiones en casos de recién nacidos con baja posibilidad de sobrevivir. Decisiones de fin de la vida y el abandono de técnicas terapéuticas fútiles que no cambian la evolución natural de la enfermedad producen conflictos éticos entre el equipo de salud y la familia. En ese escenario, es importante analizar el ámbito de protección a los derechos de las personas con deficiencia en Brasil y su aplicación a los recién nacidos con malformaciones congénitas graves, con el objetivo de contribuir al debate sobre la muerte digna en el periodo neonatal

The diagnostic certainty of congenital malformations, made possible by the technological advances in fetal propaedeutics, enables the exercise of reproductive autonomy by the pregnant woman, although it results in ethical and legal dilemmas that are difficult to solve, such as the option for abortion, and decision-making regarding newborns with meager survival possibility. End-of-life decisions and the abandonment of futile therapeutic techniques that do not alter the natural course of the illness give rise to ethical conflicts between the health team and family members. In this setting, it is important to analyze the scope of protection of the rights of handicapped persons in Brazil, and how it applies to the newborn with severe congenital malformations, with the goal of contributing to dignified death in the neonatal period

El diagnòstic efectiu de malformacions congènites que resulta de l'avanç tecnològic de la propedèutica fetal possibilita l'exercici de l'autonomia reproductiva de la dona embarassada, encara que presenta dilemes ètics I jurídics de solució difícil, com l'opció per l'avortament I la presa de decisions en casos de nounats amb baixa possibilitat de sobreviure. Les decisions de final de la vida I l'abandonament de tècniques terapèutiques fútils que no canvien l'evolució natural de la malaltia donen lloc a conflictes ètics entre l'equip de salut I la família. En aquest escenari, és important analitzar l'àmbit de protecció dels drets de les persones amb deficiència a Brasil I la seva aplicació als nadons amb malformacions congènites greus, a fi de contribuir al debat sobre la mort digna en el període neonatal

Caring for People with Disabilities: An Ethics of Respect.

Eva Feder Kittay's Learning from My Daughter: The Value and Care of Disabled Minds is poised to make a major contribution to the disability literature and is likely to spark controversy among disability scholars. The book's central contribution is the articulation of an ethics of care for meeting the "genuine needs" and "legitimate wants" of people with disabilities or chronic illnesses. We applaud Kittay, who is the mother of a woman with cerebral palsy who has multiple physical and intellectual impairments, for sharing her story in such an eloquent, accessible, and personal manner. The question remains, however, as to whether Kittay's normative theory of care captures the ethical obligations that should exist between the carer and the cared-for. In demanding that the cared-for include the carer as a participant in all their interactions with others, Kittay conceptualizes what paid caregiving relationships should look like in a way we find misguided.

Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals' views from Lebanon and Quebec.

BACKGROUND: The 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. METHODS: We 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. RESULTS: We 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. CONCLUSIONS: Our 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.

Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach.

Detection of genetic aberrations in prenatal samples, obtained through amniocentesis or chorion villus biopsy, is increasingly performed using chromosomal microarray (CMA), a technique that can uncover both aneuploidies and copy number variants throughout the genome. Despite the obvious benefits of CMA, the decision on implementing the technology is complicated by ethical issues concerning variant interpretation and reporting. In Belgium, uniform guidelines were composed and a shared database for prenatal CMA findings was established. This Belgian approach sparks discussion: it is evidence-based, prevents inconsistencies and avoids parental anxiety, but can be considered paternalistic. Here, we reflect on the cultural and moral bases of the Belgian reporting system of prenatally detected variants.