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Noninvasive Prenatal Testing: Views of Canadian Pregnant Women and Their Partners Regarding Pressure and Societal Concerns View supplementary material
Abstract
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.
... Similar to our results, a Canadian survey study found that the majority of pregnant women anticipated no personal (64%) or societal (62%) pressure to accept NIPT. In this study 24% of Canadian women anticipated feeling (some) societal pressure [37]. Both the social context and the framing of the offer of screening have been shown to influence women's decision-making and uptake of screening. ...
... Indirectly, these perceptions may cause some women to feel pressured to accept prenatal screening, impeding on their freedom to choose. In Canada, it was shown that over half of pregnant women were at least somewhat concerned that the routinization of NIPT might lead to a reduction in available resources for and have a negative impact on people with Down syndrome and their families [37]. Additionally, 70% of test-acceptors perceived it a great burden to raise a child with Down syndrome compared to 28.6% of test-decliners. ...
Due to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study). However, concerns have been raised that the test’s favorable characteristics might lead to uncritical use, also referred to as routinization. This study addresses women’s perspectives on prenatal screening with NIPT by evaluating three aspects related to routinization: informed choice, freedom to choose and (personal and societal) perspectives on Down syndrome. Nationwide, a questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice. The main reason to accept screening was “seeking reassurance” (25.5%), and the main reason to decline was “every child is welcome” (30.6%). The majority of respondents (87.7%) did not perceive societal pressure to test. Differences between test-acceptors and test-decliners in personal and societal perspectives on Down syndrome were found. Our study revealed high rates of informed decision-making and perceived freedom to choose regarding fetal aneuploidy screening, suggesting that there is little reason for concern about routinization of NIPT based on the perspectives of Dutch pregnant women. Our findings highlight the importance of responsible implementation of NIPT within a national screening program.
... As NIPT gains global popularity, it is important to note that routine testing with NIPT may lead to negative impacts on pregnant women. Ravitsky et al. reported that routine NIPT could lead to personal pressures for pregnant women and their partners, including the pressure to test and the pressure to terminate if a chromosomal aberration were to be detected.20 To minimize such pressures, patients should be counseled that NIPT is purely a risk estimation test and that the clinical utility of such test varies greatly depending on the profile of the patient and other pregnancy characteristics. ...
Objective
Noninvasive prenatal testing (NIPT) has increased the number of conditions that can be screened. However, the prevalence of conditions assessed by NIPT has remained stable. The “prevalence threshold,” a novel epidemiological concept, uses a test's sensitivity and specificity to determine the prevalence below which a test's positive predictive value declines most sharply relative to disease prevalence. In this article, we calculated the prevalence threshold for common conditions assessed through NIPT and compared the value with the actual prevalence of each condition to best ascertain the reliability of NIPT results.
Methods
Six databases and PubMed were searched from January 2010 to March 2023 for sensitivity and specificity parameters of common conditions tested through NIPT. Using an equation previously derived by the authors of the current paper, the prevalence threshold for each condition was calculated. The theoretical number of test iterations required to reach the prevalence threshold was also reported.
Results
None of the conditions tested through the NIPT had a prevalence rate that met or exceeded the calculated prevalence threshold. Trisomy 21 had the greatest concordance between the prevalence rate and the prevalence threshold. In contrast, Angelman, Cri‐du‐chat, and Prader‐Willi syndromes had the most significant discordance. Apart from trisomy 21 and XXY, all remaining conditions required more than one test iteration to reach their respective prevalence threshold.
Conclusion
We conclude that at the current prevalence levels, the positive predictive value of NIPT remains low, with the prevalence of disease levels significantly lower than the prevalence threshold for each condition tested.
... There is a perception here of a technology whose progression is not regulated and whose prescription seems both easy ('simple blood test') and complex to manage: This interview refers to the risk that women could feel pressured to accept GW-NIPT because it is offered by the health professional. The question of whether women's reproductive autonomy could be compromised when offering NIPT as part of routine clinical care ('routinisation') is not new [29,30]. However, several studies have shown that women make informed choices based on their own values regardless of whether NIPT is offered in routine clinical care or not [31][32][33]. ...
In France, since January 2020, laboratories have started to make available genome-wide Non-Invasive Prenatal Testing (GW-NIPT) beyond the three common trisomies (T21, T13 and T18) at the same cost as standard NIPT. With the possible margins for interpretation of the legal framework and in the absence of clear and updated guidelines, health professionals are left with questions about which type of screening offer may be clinically responsible, morally appropriate, and, at the same time, respectful of women’s values and ability to make autonomous choices. The aim of this study is to provide an analysis and understanding of the challenging dimensions of clinical practices in the context of evolving scientific knowledge and techniques in prenatal genomics. In this article, we develop a critical analysis of the arguments and concerns that emerge around the offer of expanded NIPT and are discussed by health professionals and scientists. To achieve this, we conducted qualitative semi-structured interviews with 17 health professionals and scientists from September 2021 to February 2022 and a comprehensive literature review (regulatory, scientific, medical, institutional sources). The results of our empirical research highlight the importance of addressing ethical issues related to the differing quality of counselling, the complexity of achieving informed consent, and the avoidance of harm to pregnant women in the feedback of findings beyond T21, T18 and T13. If there is an increase in the provision of GW-NIPT within the French public health system, it will be essential to promote medical practices that respect reproductive choices of women, support their autonomous decision and their understanding of the limitations and uncertainties associated with GW screening. Further research is required to provide an insight into women’s perceptions in order to refine our analysis from the patients’ perspective.
... As such, trivialisation fears are not fears about having greater information per se, but are rather the fear of the trivialisation of abortion" [16] (p740, 2011). Trivialisation of pregnancy termination might lead to loss of diversity in society, which in turn, might exacerbate discriminatory attitudes towards those individuals who present traits that are different from what is accepted in a eugenic society, a society looking for "perfect babies" [17]. These concerns are not novel. ...
Non-invasive prenatal testing’s (NIPT) potential to screen for a wide range of conditions is receiving growing attention. This study explores Canadian healthcare professionals’ perceptions towards NIPT’s current and possible future uses, including paternity testing, sex determination, and fetal whole genome sequencing. Semi-structured interviews were conducted with ten healthcare professionals, and another 184 participated in a survey. The triangulation of our findings shows that there is considerable agreement among healthcare professionals on expanding NIPT use for medical conditions including fetal aneuploidies and monogenic diseases, but not for non-medical conditions (sex determination for non-medical reasons and paternity testing), nor for risk predisposition information (late onset diseases and Fetal Whole Genome Sequencing). Healthcare professionals raise concerns related to eugenics, the future child’s privacy, and psychological and emotional burdens to prospective parents. Professional societies need to take these concerns into account when educating healthcare professionals on the uses of NIPT to ensure prospective parents’ reproductive decisions are optimal for them and their families.
Following its introduction to the market in 2011, the rapid spread of noninvasive prenatal testing (NIPT) was driven by commercial developers of the technology. The numerous benefits it offers are recognized by users and clinicians, but its introduction also raises several concerns regarding ethical, social, legal, and policy implications. This chapter describes the NIPT implementation in three countries: China, Canada, and Lebanon. These countries are selected since they represent a diversity of cultural frameworks and healthcare system structures. We discuss each country’s healthcare system, NIPT offer and coverage, financial and organizational resources, and cultural and policy contexts with respect to disability and pregnancy termination. The comparison of these factors across the three countries illustrates how the implementation of NIPT is shaped by cultural values and socioeconomic contexts. It also reveals the importance of some key universal ethical requirements for the responsible implementation of NIPT in any cultural context.KeywordsCross-cultural perspectivesNIPTChinaCanadaLebanonEthicalSocialEconomicPolicy implications
Background:
The Netherlands and Belgium have been among the first countries to offer non-invasive prenatal testing (NIPT) as a first-tier screening test. Despite similarities, differences exist in counseling modalities and test uptake. This study explored decision-making and perspectives of pregnant women who opted for NIPT in both countries.
Methods:
A questionnaire study was performed among pregnant women in the Netherlands (NL) (n=587) and Belgium (BE) (n=444) opting for NIPT, including measures on informed choice, personal and societal perspectives on trisomy 21, 18 and 13 and pregnancy termination.
Results:
Differences between Dutch and Belgian women were shown in the level of informed choice (NL:83% vs BE:59%,p<0.001), intention to terminate the pregnancy in case of confirmed trisomy 21 (NL:51% vs BE:62%,p=0.003) and trisomy 13/18 (NL:80% vs BE:73%,p=0.020). More Belgian women considered trisomy 21 a severe condition (NL:64% vs BE:81%,p<0.001). Belgian women more frequently indicated that they believed parents are judged for having a child with trisomy 21 (BE:42% vs NL:16%,p<0.001) and were less positive about quality of care and support for children with trisomy 21 (BE:23% vs NL:62%,p<0.001).
Conclusion:
Differences in women's decision-making regarding NIPT and the conditions screened for may be influenced by counseling aspects and country-specific societal and cultural contexts. This article is protected by copyright. All rights reserved.
Objective:
This study sought to assess Canadian pregnant women's and their partners' preferences for information about non-invasive prenatal testing (NIPT).
Methods:
Pregnant women and their partners across Canada were surveyed as part of the Personalized Genomics for prenatal Aneuploidy Screening Using maternal blood (PEGASUS) study.
Results:
A total of 882 pregnant women and 395 partners participated. Women preferred being informed by a physician (77.2%). They preferred getting information ahead of time, except for information about resources for families with Down syndrome, which they preferred getting with test results. More than half thought that written consent is important (63.7%) and could decide whether to do NIPT on the day they received the information (54.9%). Women preferred to be informed of results by telephone (43.7%) or in person (28%), but they preferred in person if they were considered at high risk for Down syndrome on the basis of the results (76%). The partner was the person whose input was considered most important (62.6%). Partners' preferences were similar, except that partners tended to want information later (at the time of the test or with the results) and felt that their opinion was not considered as highly by health professionals.
Conclusion:
Canadian women want information about NIPT early, in person, by a knowledgeable physician. Partners also want to be informed and involved in the decision-making process.
Background: Canadian policies regarding the implementation and public coverage of non-invasive prenatal testing (NIPT) are heterogeneous and shifting, with NIPT being publicly covered for high-risk pregnancies in some provinces, but not others. Such a diverse and evolving policy landscape provides fertile ground for examining the preferences of pregnant women, their partners, and health professionals regarding the implementation and coverage of NIPT by the public healthcare system, as well as the factors influencing their preferences, which is what the present study does. Methods: In this paper, we report the results of three-large scale Canadian surveys, in which 882 pregnant women, 395 partners of pregnant women, and 184 healthcare professionals participated. Results:
The paper focuses on preferences regarding how and when NIPT should be used, as well as the factors influencing these preferences, and how coverage for NIPT should be provided. These are correlated with respondents’ levels of knowledge about Down syndrome and testing technologies and with their stated intended use of NIPT results.
Conclusion: Salient is the marked difference between the preferences of prospective parents and those of healthcare professionals, which has potential implications for Canadian policy regarding NIPT implementation and insurance coverage.
Background:
Implementation of non-invasive prenatal testing (NIPT) as a highly accurate aneuploidy screening test has raised questions around whether the high uptake may result in more terminations of pregnancies and fewer births of children with Down Syndrome (DS).
Aim:
Investigate the impact of NIPT on termination and live birth rates for DS.
Methods:
Literature reporting pregnancy outcomes following NIPT was reviewed. Termination rates were calculated for women with a high-risk NIPT result for DS. Two audits of pregnancy outcomes where NIPT indicated DS were conducted in England and Singapore.
Results:
Fourteen studies, from the USA, Asia, Europe and the UK, were included in the review. Live births of children with DS were reported in eight studies. Termination rates following NIPT were unchanged or decreased when compared to termination rates prior to the introduction of NIPT. Audits found 15 of 43 women in the UK and two of six in Singapore continued pregnancies following a high-risk NIPT result.
Conclusions:
Termination rates following the detection of DS by NIPT are unchanged or decreased compared to historical termination rates. Impact on live birth rates may be minimal in settings where termination rates fall. Population-based studies are required to determine the true impact.
Non-invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) from maternal blood has recently entered clinical practice in many countries, including Canada. This test can be performed early during pregnancy to detect Down syndrome and other conditions. While NIPT promises numerous benefits, it also has challenging ethical, legal and social implications (ELSI). This paper reviews concerns currently found in the literature on the ELSI of NIPT. We make four observations. First, NIPT seems to exacerbate some of the already existing concerns raised by other prenatal tests (amniocentesis and maternal serum screening) such as threats to women's reproductive autonomy and the potential for discrimination and stigmatization of disabled individuals and their families. This may be due to the likely upcoming large scale implementation and routinization of NIPT. Second, the distinction between NIPT as a screening test (as it is currently recommended) and as a diagnostic test (potentially in the future), has certain implications for the ELSI discussion. Third, we observed a progressive shift in the literature from initially including mostly conceptual analysis to an increasing number of empirical studies. This demonstrates the contribution of empirical bioethics approaches as the technology is being implemented into clinical use. Finally, we noted an increasing interest in equity and justice concerns regarding access to NIPT as it becomes more widely implemented.
In this article, I examine how a group of LGBT Christians explained Christianity. Based on more than 36 months of fieldwork in a southeastern LGBT Christian church, I analyze how a group of LGBT Christians, responding to sexual and religious stigma, justified their Christian belief and practice by (1) denying abnormality, (2) appealing to emotions, and (3) claiming self-sacrifice. In conclusion, I draw out implications for understanding how members of subordinate groups justify seemingly normative behaviors, and some consequences these actions have for the reproduction of inequality.
Defaults have such powerful and pervasive effects on consumer behavior that they could be considered "hidden persuaders" in some settings. Ignoring defaults is not a sound option for marketers or consumer policy makers. The authors identify three theoretical causes of default effects-implied endorsement, cognitive biases, and effort-to guide thought on the appropriate marketer and policy maker responses to the issues posed for consumer welfare and consumer autonomy, including proposals for benign "nudges" of behavior. Defaults can be a preferred form of decision architecture; that is, other nonconscious influences on choice and an absence of established preferences can mean that active choice is not always the better alternative. The authors propose "smart defaults" as welfare-enhancing and market-oriented alternatives to the current practice of generally ignoring default effects. Their analysis highlights the importance of considering the process as well as the outcomes of consumer decision making and taking responsibility for consumers' mistakes arising from misuse of defaults. The authors conclude by reflecting on the ethical and policy implications of techniques that influence consumer choice without awareness.
One widely held view of prenatal screening (PNS) is that its foremost aim is, or should be, to enable reproductive choice; this is the Pure Choice view. The article critiques this position by comparing it with an alternative: Public Health Pluralism. It is argued that there are good reasons to prefer the latter, including the following. (1) Public Health Pluralism does not, as is often supposed, render PNS more vulnerable to eugenics-objections. (2) The Pure Choice view, if followed through to its logical conclusions, may have unpalatable implications, such as extending choice well beyond health screening. (3) Any sensible version of Public Health Pluralism will be capable of taking on board the moral seriousness of abortion and will advocate, where practicable, alternative means of reducing the prevalence of disease and disability. (4) Public Health Pluralism is at least as well-equipped as the Pure Choice model to deal with autonomy and consent issues.
Estimate performance of a single-nucleotide-polymorphism (SNP)-based noninvasive prenatal test for five microdeletion syndromes.
Four hundred sixty-nine samples (358 plasma samples from pregnant women, 111 artificial plasma mixtures) were amplified using massively multiplex PCR, sequenced, and analyzed using the Next-generation Aneuploidy Test Using SNPs (NATUS) algorithm for the presence or absence of deletions of 22q11.2, 1p36, distal 5p, and the Prader-Willi/Angelman region.
Detection rates were 97.8% for a 22q11.2 deletion (45/46), and 100% for Prader-Willi (15/15), Angelman (21/21), 1p36 deletion (1/1), and cri-du-chat syndromes (24/24). False positive rates were 0.76% for 22q11.2 deletion syndrome (3/397) and 0.24% for cri-du-chat syndrome (1/419). No false positives occurred for Prader-Willi (0/428), Angelman (0/442), or 1p36 deletion syndromes (0/422).
SNP-based noninvasive prenatal microdeletion screening is highly accurate. As clinically relevant microdeletions and duplications occur in >1% of pregnancies regardless of maternal age, non-invasive screening for the general pregnant population should be considered.
Copyright © 2014 Elsevier Inc. All rights reserved.
Defaults effects can be created by social contexts. The observed choices of others
can become social defaults, increasing their choice share. Social default effects
are a novel form of social influence not due to normative or informational influence:
participants were more likely to mimic observed choices when choosing in private
than in public (experiment 1) and when stakes were low rather than high (experiment
2). Like other default effects, social default effects were greater for uncertain
rather than certain choices (experiment 3) and were weaker when choices required
justification (experiment 4). Social default effects appear to occur automatically as
they become stronger when cognitive resources are constrained by time pressure
or load, and they can be sufficiently strong to induce preference reversals (experiments
5 and 6).
Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance.European Journal of Human Genetics advance online publication, 19 March 2014; doi:10.1038/ejhg.2014.32.
Prenatal screening programmes have been critiqued for their routine implementation according to clinical rationale without public debate. A new approach, non-invasive prenatal diagnosis (NIPD), promises diagnosis of fetal genetic disorders from a sample of maternal blood without the miscarriage risk of current invasive prenatal tests (e.g. amniocentesis). Little research has investigated the attitudes of wider publics to NIPD. This study used Q-methodology, which combines factor analysis with qualitative comments, to identify four distinct "viewpoints" amongst 71 UK men and women: 1. NIPD as a new tool in the ongoing societal discrimination against the disabled; 2. NIPD as a positive clinical application offering peace of mind in pregnancy; 3. NIPD as a medical option justified for severe disorders only; and 4. NIPD as a valid expansion of personal choice. Concerns included the "trivialisation of testing" and the implications of commercial/direct-to-consumer tests. Q-methodology has considerable potential to identify viewpoints and frame public debate about new technologies.
Judith Butler's contribution to feminist political thought is usually approached in terms of her concept of performativity, according to which gender exists only insofar as it is ritualistically and repetitively performed, creating permanent possibilities for performing gender in new and transgressive ways. In this paper, I argue that Butler's politics of performativity is more fundamentally grounded in the concept of genealogy, which she adapts from Foucault and, ultimately, Nietzsche. Butler understands women to have a genealogy: to be located within a history of overlapping practices and reinterpretations of femininity. This genealogical understanding of femininity allows Butler to propose a coalitional feminist politics, which requires no unity among women but only loosely overlapping connections. For Butler, feminist coalitions should aim to subvert, not consolidate, entrenched norms concerning femininity. Butler has been criticized, however, for failing to explain either how subversive agency is possible or why the subversion of gender norms is desirable. Reviewing these criticisms, I argue that Butler offers a convincing explanation of the possibility of subversive agency, but that the normative dimension of her political thought remains relatively underdeveloped. I explore how the normative aspect of Butler's thought could be strengthened by recasting her notion of genealogy along more thoroughly Nietzschean and materialist lines, in terms of an idea of active and multiple bodily forces.Contemporary Political Theory (2005) 4, 4–24. doi:10.1057/palgrave.cpt.9300135
Much of the global burden of disease is associated with behaviors—overeating, smoking, excessive alcohol consumption, and
physical inactivity—that people recognize as health-harming and yet continue to engage in, even when undesired consequences
emerge. To date, interventions aimed at changing such behaviors have largely encouraged people to reflect on their behaviors.
These approaches are often ineffectual, which is in keeping with the observation that much human behavior is automatic, cued
by environmental stimuli, resulting in actions that are largely unaccompanied by conscious reflection. We propose that interventions
targeting these automatic bases of behaviors may be more effective. We discuss specific interventions and suggest ways to
determine whether and how interventions that target automatic processes can enhance global efforts to prevent disease.
Objectives:
Health behavior theories focus on the role of conscious, reflective factors (e.g., behavioral intentions, risk perceptions) in predicting and changing behavior. Dual-process models, on the other hand, propose that health actions are guided not only by a conscious, reflective, rule-based system but also by a nonconscious, impulsive, associative system. This article argues that research on health decisions, actions, and outcomes will be enriched by greater consideration of nonconscious processes.
Methods:
A narrative review is presented that delineates research on implicit cognition, implicit affect, and implicit motivation. In each case, we describe the key ideas, how they have been taken up in health psychology, and the possibilities for behavior change interventions, before outlining directions that might profitably be taken in future research.
Results:
Correlational research on implicit cognitive and affective processes (attentional bias and implicit attitudes) has recently been supplemented by intervention studies using implementation intentions and practice-based training that show promising effects. Studies of implicit motivation (health goal priming) have also observed encouraging findings. There is considerable scope for further investigations of implicit affect control, unconscious thought, and the automatization of striving for health goals.
Conclusion:
Research on nonconscious processes holds significant potential that can and should be developed by health psychologists. Consideration of impulsive as well as reflective processes will engender new targets for intervention and should ultimately enhance the effectiveness of behavior change efforts.
Background
The translation of novel genomic technologies from bench to bedside enjoins the comprehensive consideration of the perspectives of all stakeholders who stand to influence, or be influenced by, the translational course. Non-invasive prenatal aneuploidy testing that utilizes cell-free fetal DNA (cffDNA) circulating in maternal blood is one example of an innovative technology that promises significant benefits for its intended end users; however, it is currently uncertain whether it will achieve widespread clinical implementation. We conducted qualitative interviews with 18 diverse stakeholders in this domain, including prospective users of the technology and healthcare personnel, researchers and developers, and experts in social, legal, and regulatory aspects of genetic technology, and a pilot survey of 62 obstetric healthcare providers. Analysis of interview and survey data was combined with a review of the proceedings of a full-day, multidisciplinary conference on the topic and published scientific and ethics literature surrounding this and other relevant technologies.
Discussion
We constructed potential pathways for technological implementation, identified broad stakeholder classes party to these translational processes, and performed a preliminary assessment of the viewpoints and interrelations among these diverse stakeholders. Some of the stakeholders whose priorities are critical to understand and integrate into translation include pregnant women and their families; healthcare providers; scientists, their institutions or companies, and the funding agencies that support them; regulatory and judicial bodies; third-party payers; professional societies; educational systems; disability rights communities; and other representatives from civil society. Stakeholder interviews, survey findings, and conference proceedings add complexity to these envisioned pathways and also demonstrate a paramount need to incorporate an iterative stakeholder analysis early and throughout the translational endeavor. We believe that the translational framework that we have developed will help guide crucial future stakeholder mapping and engagement activities for cffDNA aneuploidy testing and inform novel methods of technology assessment for other developments in the growing field of genomic medicine.
Summary
Mapping potential pathways for implementation and exploring the attitudes and interrelations of diverse stakeholders may lead to more effective translation of a novel method of prenatal aneuploidy testing.
Non-invasive prenatal genetic diagnostic (NIPD) tests are being developed using cell-free fetal DNA in the maternal circulation. NIPD tests avoid or reduce the need for invasive diagnostic procedures for conditions like Down syndrome. Discussion of ethical and social implications of these techniques is increasing. We report findings from a study of public attitudes relevant to the introduction of NIPD. A key aim was to examine the range of attitudes relevant to NIPD within a diverse sample.
Qualitative analysis of written free text 'first responses' to a written neutral description of NIPD as part of a Q-methodology study conducted with a purposive sample of the UK population (n = 71).
The majority (63%) of respondents described their first response as positive. However, respondents displayed ambivalence, expressing positive views of individual/medical rationale for NIPD and unease concerning public health rationale and societal implications. Unease related to eugenic reasoning underlying existing prenatal testing, 'too much control' in reproduction, commercial provision, information and support requirements for expanded testing, and limiting the use of testing.
These findings suggest that regulating and monitoring commercial provision of NIPD services, and monitoring introduction and clinical use, are a public preference.
Theories about authoritative knowledge (AK) and the technological imperative have received varying levels of interest in anthropological, feminist and science and technology studies. Although the anthropological literature abounds with empirical considerations of authoritative knowledge, few have considered both theories through an empirical, inductive lens. Data extracted from an earlier study of 30 women's responses to termination for fetal anomaly are reanalyzed to consider the women's views of, and responses to, prenatal diagnostic technologies (PNDTs). Findings indicate that a small minority embrace the societal portrayal of technology as univalently positive, while the majority have nuanced and ambivalent responses to the use of PNDTs. Further, the interface of authoritative knowledge and the technological imperative suggests that AK derives not only from medical provider status and technology use, but also from the adequacy and trustworthiness of the information. The issue of timing and uncertainty of the information also are interrogated for their impact on women's lives and what that can illuminate about the theories of AK and the technological imperative.
Cell-free fetal nucleic acids (cffNA) can be detected in the maternal circulation during pregnancy, potentially offering an excellent method for early non-invasive prenatal diagnosis (NIPD) of the genetic status of a fetus. Using molecular techniques, fetal DNA and RNA can be detected from 5 weeks gestation and are rapidly cleared from the circulation following birth.
We searched PubMed systematically using keywords free fetal DNA and NIPD. Reference lists from relevant papers were also searched to ensure comprehensive coverage of the area.
Cell-free fetal DNA comprises only 3-6% of the total circulating cell-free DNA, therefore diagnoses are primarily limited to those caused by paternally inherited sequences as well as conditions that can be inferred by the unique gene expression patterns in the fetus and placenta. Broadly, the potential applications of this technology fall into two categories: first, high genetic risk families with inheritable monogenic diseases, including sex determination in cases at risk of X-linked diseases and detection of specific paternally inherited single gene disorders; and second, routine antenatal care offered to all pregnant women, including prenatal screening/diagnosis for aneuploidy, particularly Down syndrome (DS), and diagnosis of Rhesus factor status in RhD negative women. Already sex determination and Rhesus factor diagnosis are nearing translation into clinical practice for high-risk individuals.
The analysis of cffNA may allow NIPD for a variety of genetic conditions and may in future form part of national antenatal screening programmes for DS and other common genetic disorders.
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 (NR1 = 61, NR2 = 58, NR3 = 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 (NR3 = 14), social sciences and humanities researchers (NR3 = 13), patients/disability rights advocates (NR3 = 14), and cultural/religious communities advocates (NR3 = 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.
Non-invasive prenatal testing (NIPT) allows early, accurate diagnosis of Down syndrome that has resulted in increased terminations. This qualitative study involved in-depth interviews of fathers of children with Down syndrome about their views on the availability of NIPT. Thematic network analysis revealed that although fathers appreciated an early diagnosis with NIPT, they saw the test as being a predetermined pathway to termination. Fathers felt that expectation to terminate reflects negative societal attitudes towards those with Down syndrome and disability, fearing that NIPT may become a form of eugenics. Fathers retrospectively contrasted these attitudes with the actual reality of raising their children with Down syndrome, which they described as bringing joy to their lives. Findings suggest that although fathers valued NIPT as an information-giving tool that allowed autonomous parental choices about the pregnancy, they believe that it should be accompanied by balanced information about the reality of raising a child with Down syndrome.
In the debate surrounding the introduction of non-invasive prenatal testing (NIPT) in prenatal screening programmes, the concept of routinisation is often used to refer to concerns and potential negative consequences of the test. A literature analysis shows that routinisation has many different meanings, which can be distinguished in three major versions of the concept. Each of these versions comprises several inter-related fears and concerns regarding prenatal screening and particularly regarding NIPT in three areas: (1) informed choice, (2) freedom to choose and (3) consequences for people with a disability. Three of the strongest arguments raised under the flag of routinisation are assessed for their validity: the threat that NIPT poses to informed choice, the potential increase in uptake of first-trimester prenatal screening and its consequences for social pressure to participate in screening or terminate affected pregnancies, and the negative consequences for disabled people. These routinisation arguments lack empirical or normative ground. However, the results of this analysis do not imply that no attention should be paid to possible problems surrounding the introduction of NIPT. At least two problems remain and should be addressed: there should be an ongoing debate about the requirements of informed choice, particularly related to an expanded scope of prenatal screening. Also, reproductive autonomy can only be achieved when expecting parents’ options are variegated, real and valuable, so that they can continue to choose whether or not to screen or to terminate a pregnancy.
Diversity studies have much to gain from the interdisciplinary field of critical disability studies. The dis/ability complex acknowledges the mutually inclusive socio-political practices associated with the conceptual co-constitution of disability and ability. Simultaneously, the dis/ability complex recognizes that in order for disablism to be reproduced it requires its hidden referent to be present; namely, ableism. Disability all to often appears in our cultural psyche as a problem of body or mind, as an object of rehabilitative or curative intervention. Ability, meanwhile, is posited as an idealized marker of successful citizenship. In this paper I foreground the dis/ability complex as a guiding subject through which to think a number of important individual and collective processes including labour, emotion, learning, technology, and the anthroposcene. I conclude that all of these intersectional sites of engagement significantly benefit from an engagement with the dis/ ability complex.
Since the 1970s, prenatal testing has been integrated into many health care systems on the basis of two competing and largely irreconcilable rationales. The reproductive autonomy rationale focuses on nondirective counseling and consent as ways to ensure that women's decisions about testing and subsequent care are informed and free of undue pressures. It also represents an easily understandable and ethically convincing basis for widespread access to prenatal testing, since the value of autonomy is well established in Western bioethics and widely recognized by funders of health care. In contrast, the public health rationale approaches prenatal testing as designed to reduce the incidence of certain conditions in the population to reduce the burden of disease. This rationale emphasizes the societal consequences of reproduction and the aggregate impact of women's individual reproductive decisions on the overall health of future populations. In this essay, I argue that, despite what could be seen as a persistent failure to meet the ideals of reproductive autonomy, resisting the public health rationale as a basis for prenatal screening is ethically and pragmatically crucial. I recommend policy mechanisms that can enhance reproductive autonomy at a societal level to support choice at the individual level.
A simulation study was conducted to assess how well the necessary sample size to achieve a stipulated margin of error can be estimated prior to sampling. Our concern was particulary focused on performance when sampling from a very skewed distribution, which is a common feature of many biological, economic and other populations. Following the provocative article by Kupper and Hafner (1989 Kupper, L. L. and Hafner, K. B. (1989). How appropriate are popular sample size formulas? The American Statistician, 43:101–105.[Taylor & Francis Online], [Web of Science ®] [Google Scholar]), we examined two approaches for estimating sample size – one being the commonly used strategy aimed at regulating the average magnitude of the stipulated margin of error and the second being Kupper and Hafner's strategy to control the tolerance probability with which the stipulated margin of error is exceeded. Results of the simulation revealed that 1) skewness does not much affect the average estimated sample size but can greatly extend the range of estimated sample sizes; and 2) skewness does reduce the effectiveness of Kupper and Hafner's sample size estimator, yet its effectiveness is negatively impacted less by skewness directly, and to a much greater degree by the common practice of estimating the population variance via a pilot sampling from the skewed population. Nonetheless, the simulations suggest that estimating sample size to control the probability with which the desired margin of error is achieved is a worthwhile alternative to the usual sample size formula which controls the average width of the confidence interval only.
Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing. Nevertheless, professional societies currently recommend it as an advanced screening test due to the low false positive rate (FPR). Despite the practical and psychological benefits, a number of concerns have been raised which warrant attention. These include the potential for routinisation of testing and subsequent impact on informed decision-making, an “easy” blood test inadvertently contributing to women feeling pressured to take the test, fears NIPT will lead to less tolerance and support for those living with Down syndrome and the heightened expectation of having “perfect babies”. These issues can be addressed to some extent through clinician education, patient information and establishing national and international consensus in the development of comprehensive and regularly updated guidelines. As the number of conditions we are able to test for non-invasively expands it will be increasingly important to ensure pre-test counselling can be delivered effectively supported by knowledgeable healthcare professionals.
Objectives:
Stakeholders' views are essential for informing implementation strategies for non-invasive prenatal testing (NIPT). Little is known about such views in developing countries. We explored attitudes toward NIPT among obstetricians in Pakistan, a developing Islamic country.
Methods:
A 35-item questionnaire was distributed and collected at eight events (a national conference and seven workshops in five cities) for obstetric professionals on advances in fetal medicine.
Results:
Responses from 113 obstetrician show positive attitudes towards implementation of NIPT: 95% agreed prevention of genetic conditions was a necessity and 97% agreed public hospitals should provide prenatal screening tests. However, participants also agreed the availability of NIPT would increase social pressure on women to have prenatal screening tests and to terminate an affected pregnancy (53% and 63%, respectively). Most participants would not offer NIPT for sex determination (55%), although 31% would. The most valued aspects of NIPT was its safety, followed by its utility, then accuracy.
Conclusion:
Participants generally supported the implementation of NIPT, but raised concerns about social implications. Therefore, national policy is needed to regulate the implementation of NIPT, and pre-test information and post-test genetic counselling is needed to mitigate social pressure and support parents to make informed decisions.
Prenatal genetic testing has changed markedly since the original introduction of amniocentesis as a means to evaluate the fetal karyotype. Because it has long been recognized that maternal age is highly associated with risk for Down syndrome, maternal age became the first screening test for aneuploidy. Later development of screening with maternal serum analytes and nuchal translucency ultrasound all led to improvements in prenatal genetic testing, with higher detection rates and lower screen-positive rates. The past decade has seen further advances with the discovery of cell-free fetal DNA (cfDNA) in the maternal circulation and development of sequencing and bioinformatics analytic approaches to very accurately assess the risk of Down syndrome. In 2011, this culminated in the clinical introduction of noninvasive prenatal testing (NIPT) for aneuploidy using cfDNA (1). With very-high sensitivity and very-low false-positive rates, this advance represented a tremendous step forward in Down syndrome detection. Subsequently, with higher depth of sequencing and improved bioinformatics analyses, NIPT expanded to include detection of a number of microdeletions (2, 3). Genome-wide screening for copy number variants has also been reported and is now offered clinically (4, 5). Noninvasive identification of fetal single-gene disorders, and ultimately analysis of the fetal genome, has become the “next frontier” in prenatal diagnosis (6) (Fig. 1).
Autonomy is fundamental to liberalism. But autonomous individuals often choose to do things that harm themselves or undermine their equality. In particular, women often choose to participate in practices of sexual inequality-cosmetic surgery, gendered patterns of work and childcare, makeup, restrictive clothing, or the sexual subordination required by membership in certain religious groups. In this book, Clare Chambers argues that this predicament poses a fundamental challenge to many existing liberal and multicultural theories that dominate contemporary political philosophy.Chambers argues that a theory of justice cannot ignore the influence of culture and the role it plays in shaping choices. If cultures shape choices, it is problematic to use those choices as the measure of the justice of the culture. Drawing upon feminist critiques of gender inequality and poststructuralist theories of social construction, she argues that we should accept some of the multicultural claims about the importance of culture in shaping our actions and identities, but that we should reach the opposite normative conclusion to that of multiculturalists and many liberals. Rather than using the idea of social construction to justify cultural respect or protection, we should use it to ground a critical stance toward cultural norms. The book presents radical proposals for state action to promote sexual and cultural justice.
In Black Sexual Politics, one of America's most influential writers on race and gender explores how images of Black sexuality have been used to maintain the color line and how they threaten to spread a new brand of racism around the world today.
Probably the main purpose of reproductive technologies is to enable people who choose to do so to avoid the birth of a baby with a disabling condition. However the conditions women want information about and the 'price' they are willing to pay for obtaining that information vary enormously. Individual women have to arrive at their own prenatal testing choices by 'trading off' means and ends in order to resolve the dilemmas facing them. We know very little about how individuals make these trade-offs, so it is difficult to predict how new technologies will affect their choices and preferences. Uptake decisions can be expected to change, especially in the group of women who now are put off by some aspect of the current screening approach, where the avoidance of miscarriage risk may have provided a kind of 'psychological shelter', protecting a lot of people from having to make other decisions. Technologies such as Pre-implantation Genetic Diagnosis may remove a second 'psychological shelter' because they offer the means of avoiding the birth of an affected child without terminating a pregnancy. Even if new technologies will make some decisions easier in terms of their cognitive demands, they will also create new dilemmas and decision making will not necessarily become less stressful in emotional terms. Key challenges concern information and decision-making.
© 2014 John Wiley & Sons Ltd.
This article presents evidence that the availability of a new noninvasive test for Down syndrome (known as "MaterniT21") could result in increased uptake of prenatal testing for Down syndrome and an increase in selective abortions of affected fetuses. I argue that people with Down syndrome and those sympathetic to them have reason to object to these developments because bias against cognitive disability is an influence on decisions to test and terminate for Down syndrome, and social practices motivated by bias are objectionable. The article addresses many of the challenges to the disability critique formulated by its detractors. I discuss whether the disability critique is the same as the "expressivist" objection to prenatal testing, the nature of the harm experienced by people with Down syndrome, and the link between prenatal testing and this harm.
Noninvasive prenatal testing (NIPT) allows for highly sensitive detection of Down syndrome early in pregnancy with no risk of miscarriage, therefore potentially increasing the number of pregnancies identified with Down syndrome. This study assesses how mothers of children with Down syndrome perceive NIPT, especially the impact they think it will have on their families and other families with children who have Down syndrome. Seventy-three self-reported mothers of children with Down syndrome responded to an anonymous online survey emailed to, and posted on, message boards of various Down syndrome support groups and networks. Data analysis included chi-square tests and thematic analysis. Fifty-nine percent of respondents indicated they would use NIPT in the future; respondents who had not used prenatal testing in the past were significantly less likely to report interest in using NIPT in the future than those who had prenatal testing previously (p < .001). Many respondents felt NIPT could lead to increased terminations (88 %), increased social stigma (57 %), and decreased availability of services for individuals with Down syndrome (64 %). However, only 16 % believed availability of new noninvasive tests would be the most important factor in determining the number of pregnancies with Down syndrome terminated in the future. Additionally, 48 % believed health care providers give biased or incorrect information about Down syndrome at the time of diagnosis, and 24 % felt this incorrect information leads to terminations of pregnancies affected with Down syndrome. Results suggest although mothers of children with Down syndrome believe new noninvasive testing will lead to an increase in termination of pregnancies with Down syndrome, they do not think it is the MOST important factor. They also highlight the need to provide a diagnosis of Down syndrome in a balanced and objective manner.
First identified in 1997, cell-free fetal DNA (cffDNA) has just recently been used to detect fetal aneuploidy of chromosomes 13, 18, and 21, showing its potential to revolutionize prenatal genetic testing as a non-invasive screening tool. Although this technological advancement is exciting and has certain medical applications, it has been unclear how it will be implemented in a clinical setting. Genetic counselors will likely be instrumental in answering that question, but to date, there is no published research regarding prenatal counselors' implementation of and experiences with cffDNA testing. We developed a 67 question survey to gather descriptive information from counselors regarding their personal opinions, experiences, thoughts, and concerns regarding the validity, usefulness, and implementation of this new technology. A total of 236 individuals completed a portion of the survey; not all respondents answered all questions. Qualitative questions complemented quantitative survey items, allowing respondents to voice their thoughts directly. Results indicate that counselors value cffDNA testing as a screening option but are concerned regarding how some obstetricians and patients make use of this testing. Further results, discussion, and practice implications are presented.
To investigate the attitude among pregnant women regarding non-invasive prenatal testing (NIPT) for detecting trisomy 21 (T21) and to quantify their willingness to pay for NIPT.
A questionnaire was administered to pregnant women who received counselling for first-trimester screening (FTS) in two hospitals and nine midwife practices in the Netherlands.
A total of 147 women completed the questionnaire, yielding a response rate of 43%. If NIPT for detecting T21 were available, 81% stated they would choose to have this test, and 57% of women who elected not to undergo FTS in their current pregnancy would perform NIPT if available. Willingness to pay for NIPT was correlated with age and income, but not education level. The price that participants were willing to pay for NIPT was similar to the current price for FTS.
The pregnant women in our study had a positive attitude regarding NIPT for T21, and more than half of the women who rejected prenatal screening would receive NIPT if available.
Due to the elimination of iatrogenic miscarriage, caregivers should be aware that informed decision-making can change with respect to prenatal screening with the introduction of NIPT.
Background:
The introduction of non-invasive prenatal testing (NIPT) for Down's syndrome into routine state-funded antenatal care in the UK is approaching.
Methods:
We conducted qualitative one-to-one interviews with 40 pregnant women to ascertain their views on using NIPT for Down's syndrome.
Results:
The overwhelming majority of women viewed NIPT as a positive advancement in prenatal care, highlighting numerous practical and psychological advantages of a safe test that was highly accurate and could be conducted early in pregnancy. Concerns raised were that testing could become routinised, and that pressure to test might occur with women feeling less justified in declining a blood test that is available and offered by trusted health professionals; the impact on the disabled community and stigma for women who decline testing was also noted. Nevertheless, the vast majority of women said they would be likely to use NIPT, including half of the women who currently decline screening. Women's preference was for pre- and post-test counselling to be delivered by a midwife.
Conclusion:
The successful introduction of NIPT into routine prenatal care will require guidelines and counselling strategies which ensure women are offered this test in a way which safeguards informed consent.
Non-invasive prenatal testing has been in clinical use for a decade; however, there is evidence that this technology will be more widely applied within the next few years. Guidance is therefore required to ensure that the procedure is offered in a way that is evidence based and ethically and clinically acceptable. We conducted a systematic review of the current relevant literature to ascertain the factors that should be considered when offering non-invasive prenatal testing in a clinical setting. We undertook a systematic search of relevant databases, journals and reference lists, and from an initial list of 298 potential papers, identified 11 that were directly relevant to the study. Original data were extracted and presented in a table, and the content of all papers was analysed and presented in narrative form. Four main themes emerged: perceived attributes of the test, regulation and ethical issues, non-invasive prenatal testing in practice and economic considerations. However, there was a basic difference in the approach of actual or potential service users, who were very positive about the benefits of the technology, compared with other research participants, who were concerned with the potential moral and ethical outcomes of using this testing method. Recommendations for the appropriate use of non-invasive prenatal testing are made.
Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of established screening and invasive technologies, range of cytogenetic abnormalities detectable, costs, counseling, and ethical issues. Current NIPT approaches involve whole genome sequencing, targeted sequencing, and assessment of single nucleotide polymorphism (SNP) differences between mother and fetus. Clinical trials have demonstrated the efficacy of NIPT for Down and Edwards syndromes, and possibly Patau syndrome, in high risk women. Universal NIPT screening is not cost-effective, but when used contingently in women found at moderate risk or higher by conventional screening it is effective. Positive NIPT results must be confirmed using invasive techniques. Established screening, fetal ultrasound, and invasive procedures with microarray testing, allow the detection of a broad range of additional abnormalities not yet detectable by NIPT. NIPT approaches that take advantage of SNP information potentially allow the identification of parent of origin for imbalances, triploidy, uniparental disomy, consanguinity and separately evaluate dizygotic twins. Fetal fraction enrichment, improved sequencing, and selected analysis of the most informative sequences, should result in tests for additional chromosome abnormalities. The provision of adequate pre-test counseling poses a substantial challenge.
Non-invasive prenatal diagnosis (NIPD) will offer new options in prenatal diagnosis for carriers of single gene disorders. This will affect carrier couples and health professionals involved in prenatal care. The aim of this study was to determine health professional opinions on NIPD for single gene disorders to guide development of infrastructure required for implementation. A qualitative approach was adopted using focus groups (N = 17) and one-to-one interviews (N = 30) with health professionals from a range of backgrounds involved in caring for carriers of single gene disorders. Data were digitally recorded, transcribed verbatim and analyzed using thematic analysis. Participants were very positive about the introduction of NIPD, describing benefits arising from no risk of miscarriage, earlier testing and a simple procedure. A number of concerns for implementation were raised. Participants emphasized the need for the new test to be highly accurate and thoroughly validated. There was concern that people may not give as much thought to having a blood test compared to an invasive test or that it may be viewed as routine and as such NIPD may negatively impact on informed consent. In addition there was concern that the simplicity of a blood test may lead to increased pressure to test and terminate. However, participants felt these concerns could be overcome with thorough pre- and post-test counseling. To ensure high quality care, offering NIPD through genetics or other specialist services is essential. Ongoing education and training of health professionals will be important, and guidelines and regulation are needed for effective implementation. © 2013 Wiley Periodicals, Inc.
AIM: To explore women's experiences of using newly developed non-invasive prenatal diagnosis (NIPD) for single gene disorders. METHODS: Qualitative one-to-one interviews with eight women with pregnancies at risk of achondroplasia, Apert syndrome, thanatophoric dysplasia or a neuromuscular condition. RESULTS: Women were positive about an accurate, safe, and early test. Where the fetus was at increased risk of inheriting a genetic condition, the benefits of NIPD over invasive testing were that it reduced the period of uncertainty and worry by being conducted within the first trimester. For those women for whom there was a low recurrence risk, the period of uncertainty could be reduced and pregnancy 'normalised' earlier. For women who would not have risked invasive testing, NIPD enabled them to have an early diagnostic test that was more accurate than ultrasound. Where ultrasound abnormalities were detected, NIPD ended the 'diagnostic odyssey', enabling women to make practical and psychological preparations for the birth. NIPD conducted through specialist services was considered most appropriate. CONCLUSION: NIPD for these particular single gene disorders was appreciated by women and appears to be satisfactory. Further exploration of stakeholder views may be required to inform more widespread implementation of NIPD for a broader range of genetic conditions.
What's already known about this topic? Decision‐making in prenatal screening involves preparing for the potential diagnosis of Down syndrome (trisomy 21 or T21) and the choice for termination of pregnancy (TOP).
What does this study add? The results suggest that implementing non‐invasive prenatal testing may be associated with an increased uptake of prenatal testing, whereas the percentage of women who opt to terminate a pregnancy affected by trisomy 21(T21) may likely decrease.
Non‐invasive prenatal testing may not lead to a vast reduction in live births of children with T21, but unlike the current situation, most will be born in families who accepted, with or without testing, the chance of having and caring for a child with T21.
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.
This study aims to assess the attitudes toward non-invasive prenatal diagnosis (NIPD) and NIPD problems in clinical practice in Japan.
A mail-in survey using a self-reported questionnaire was conducted among pregnant women and health professionals. The questionnaire enquired about attitudes, concerns, and expectations regarding NIPD.
The responses from 252 respondents revealed that pregnant women have more positive attitudes toward NIPD than health professionals. In addition, there were wide discrepancies in concerns and expectations about NIPD, between medical professionals and pregnant women. The respondents with less NIPD knowledge had a more positive attitude toward the clinical application of NIPD. There was concern expressed by clinical geneticists whether an NIPD test should be performed or not when there is a lack of knowledge about the NIPD. All of the health professionals emphasized the importance of providing genetic counseling prior to and after the testing.
Pregnant women place importance on the safety and non-invasiveness of the NIPD tests, whereas medical professionals consider the diagnostic accuracy and reliability of the test to be the most important. Health professionals pointed out that the tests might be frequently performed without the pregnant women having adequate knowledge or counseling.
To investigate pregnant women's level of future interest in noninvasive prenatal diagnosis (NIPD) and what factors might affect expected uptake of this testing.
Written questionnaires were administered to women in their third trimester.
One hundred fourteen women returned the questionnaire (80.9% response rate). Of these, 71.9% reported interest in NIPD, 22.7% were ambivalent, and 5.4% were uninterested. Safety of the fetus was the single most important factor in 75% of women's decisions. Factors associated with increased interest in NIPD included: older age (p = 0.036), higher education (p = 0.013), Caucasian or Asian ethnicity (p = 0.011), and higher likelihood to terminate an affected pregnancy (p = 0.002). Nearly 20% of women reported that they would do whatever their doctor recommended regarding NIPD, and 94.4% of women wished to meet with a genetic counselor at some point to discuss NIPD.
The majority of pregnant women report hypothetical interest in NIPD, primarily because of increased safety for the fetus, although a significant minority are uninterested or ambivalent. Discussions with healthcare providers regarding NIPD, and their recommendations, are likely to be an important factor in women's decisions about this testing. As such, adequate discussion of the implications of prenatal diagnostic testing will be critical.
Noninvasive prenatal diagnosis (NIPD) can potentially allow early detection of fetal genetic disorders, sex, other nonmedical traits, and paternity. We review ethical concerns associated with the imminent introduction of this testing.
There has been inadequate scientific and medical review of some NIPD tests under development or already available as direct-to-consumer products. Test introduction is largely unregulated and this has prompted calls for greater oversight. As a replacement for current prenatal screening and diagnosis, NIPD may not necessarily identify the same spectrum of disorders. Ethicists are also concerned how women can receive adequate pretest counseling and provide a truly informed consent. Widespread use of NIPD for minor disorders, predispositions, sex, normal human variation and paternity could result in a trivialization of pregnancy termination. Other concerns include the equitable access to testing by all population subgroups. NIPD has the potential to significantly reduce the prevalence of some genetic disorders and thereby change public attitudes about the handicapped and their families.
Striking the correct balance between providing only worthwhile testing and ensuring individual patients' reproductive choice will be a major challenge and it is important to begin to address the many ethical issues that NIPD raises.
Informed choice is a fundamental concept within prenatal care. The present study assessed the extent to which the introduction of non-invasive prenatal diagnosis (NIPD) of Down's syndrome may undermine the process of making informed choices to undergo prenatal testing or screening for Down's syndrome by altering the quality and quantity of pre-test counselling.
231 obstetricians and midwives were randomly allocated one of three vignettes, each describing a different type of test: (a) invasive prenatal diagnosis (IPD), (b) non-invasive prenatal diagnosis (NIPD) or (c) Down's syndrome screening (DSS). Participants were then asked to complete a questionnaire assessing (1) the information considered important to communicate to women, (2) whether test offer and uptake should take place on different days, and (3) whether signed consent forms should be obtained prior to testing.
Across the three test types, five out of the seven presented topics were considered equally important to communicate, including the information that testing is the woman's choice. Compared with participants receiving the IPD vignette, those receiving the NIPD and DSS vignettes were less likely to report that counselling and testing should occur on different days (IPD 94.7% versus 74.1% and 73.9% for NIPD and DSS respectively, p=.001) and that written consent was a necessity (IPD 96.1% versus 68.3% and 75.4% for NIPD and DSS respectively, p<.001).
This study provides the first empirical evidence to demonstrate that practitioners may view the consent process for NIPD differently to IPD. There is potential for the introduction of NIPD to undermine women making informed choices in the context of prenatal diagnostic testing for conditions like DS.
Given the importance of informed choice in reproductive decision-making, implementation of any programme based on NIPD should be designed to facilitate this.
Prenatal screening, consisting of maternal serum screening and nuchal translucency screening, is on the verge of expansion, both by being offered to more pregnant women and by screening for more conditions. The Society of Obstetricians and Gynaecologists of Canada and the American College of Obstetricians and Gynecologists have each recently recommended that screening be extended to all pregnant women regardless of age, disease history, or risk status. This screening is commonly justified by appeal to the value of autonomy, or women's choice. In this paper, I critically examine the value of autonomy in the context of prenatal screening to determine whether it justifies the routine offer of screening and the expansion of screening services. I argue that in the vast majority of cases the option of prenatal screening does not promote or protect women's autonomy. Both a narrow conception of choice as informed consent and a broad conception of choice as relational reveal difficulties in achieving adequate standards of free informed choice. While there are reasons to worry that women's autonomy is not being protected or promoted within the limited scope of current practice, we should hesitate before normalizing it as part of standard prenatal care for all.