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Reproductive ethics
Ethics of routine: a critical analysis of the concept of ‘routinisation’ in prenatal screening
  1. Adriana Kater-Kuipers1,
  2. Inez D de Beaufort1,
  3. Robert-Jan H Galjaard2,
  4. Eline M Bunnik1
  1. 1 Department of Medical Ethics and Philosophy of Medicine, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands
  2. 2 Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands
  1. Correspondence to Eline M Bunnik, Department of Medical Ethics and Philosophy of Medicine, Erasmus MC, University Medical Centre Rotterdam, Rotterdam 3015 CN, The Netherlands; e.bunnik{at}erasmusmc.nl

Abstract

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.

  • ethics
  • informed consent
  • reproductive medicine
  • autonomy
  • genetic screening/testing

https://doi.org/10.1136/medethics-2017-104729

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    Introduction

    For several years, first-trimester prenatal screening for chromosomal abnormalities has been available for pregnant women and their partners. With the first-trimester combined test (FCT), which includes a blood test and an ultrasound scan, the fetus can be assessed for its risk of trisomy 21, 18 or 13, or Down’s, Edwards’ or Patau’s syndrome, respectively. The introduction of non-invasive prenatal testing (NIPT) now changes the field of first-trimester prenatal screening. NIPT is based on the possibility to analyse cell-free fetal DNA in the blood of the mother for chromosomal abnormalities in the fetus. With a simple maternal blood draw, the fetus can be assessed for trisomies 21, 18 and 13.1 NIPT can be performed throughout the pregnancy, from 10 weeks onwards, and provides more reliable test results for these trisomies than the FCT.2 Further, as genome-wide sequencing techniques and the bioinformatics analyses of the data are improving, more abnormalities other than trisomies 21, 18 and 13 can be detected through NIPT.1 In theory, this allows for the expansion of the number of disorders that can be included in the test.

    The favourable test characteristics of NIPT—early, reliable and safe—make the test attractive to pregnant women.3 But pregnant women and professionals have also indicated that these improved test characteristics might raise ethical concerns.4 5 It is feared that the test is ‘too easy’ and influences the way the test is perceived and presented, namely as a routine offer, which a pregnant woman will accept as a matter of course.6–9 This might impede the informed choice of women,7–9 or lead to pressure to test.10 11 In the literature, this concern is often referred to as routinisation of prenatal testing.7 9 12 Routinisation is thought to affect the generally acknowledged single justified aim of prenatal screening: to promote reproductive autonomy.13 Reproductive autonomy in the context of prenatal screening presupposes that women make informed choices,13 and also that they are free to choose from a range of options,14 which should be varied, realistic and valuable.15 This implies that women or couples should have the freedom to choose between screening and not-screening, and, more importantly, between termination and continuation of the affected pregnancy. Routinisation of prenatal screening is thought to negatively affect the precondition of autonomous choice, but it can also indicate other concerns, such as adverse consequences for people with Down’s syndrome, including discrimination and stigmatisation.11 16 Routinisation is presented either as a disadvantage of first-trimester prenatal screening in general, or as an argument against a widespread implementation of NIPT.13 17 The literature about prenatal screening encompasses a large number of interpretations of the concept of routinisation. Routinisation refers to concerns that having a prenatal test might be self-evident to pregnant women or couples or that their choices for prenatal screening are uninformed and not well considered, but it may also refer to the trivialisation of abortion. Routinisation serves as an umbrella term for many kinds of concerns and consequences of prenatal screening. Using an umbrella term as an argument in an ethical discussion is usually not productive, as it may be unclear what concern or problem exactly is being referred to. Also, when a problem is not clearly defined, it is difficult to devise or assess possible solutions.

    This paper explores the various meanings of the concept of routinisation as it is used in the ethical and psychosocial literature on prenatal screening. It further examines the validity of three prominent versions of routinisation as arguments in the debate about a responsible implementation of NIPT, both normatively and empirically. It contributes to the current debate by clarifying the routinisation argument and dispelling some of the public fears for routinisation in the current prenatal screening landscape, and by pointing out possible solutions to some of the more serious concerns that routinisation may refer to.

    Different interpretations of routinisation in the literature

    In order to find different interpretations of the concept of routinisation we conducted a literature search. We collected publications that include ‘routinization’/‘routinisation’ or ‘routinize’ and ‘prenatal screening’ in the full text from the following databases: Embase, PsycINFO OvidSP, Google Scholar and PubMed. Search strings included ‘prenatal screening’, ‘antenatal screening’, ‘prenatal test*’ and routini*. Results included empirical studies, ethical analysis and governmental documents. Interpretations of routinisation were listed, coded and clustered in several themes.

    Table 1 provides an overview of the various meanings of routinisation. Three clusters of interpretations of routinisation were identified: informed choice, freedom to choose and consequences for people with a disability.

    View this table:
    Table 1

    Interpretations of routinisation in the literature

    Informed choice

    First, routinisation refers to the potential negative consequences of a routine offer of prenatal screening for the informed choice of pregnant women. Routinisation means that giving consent is an ‘act of routine’ or ‘habitual’.18 According to authors, first-trimester prenatal screening has already become routinised9 12 or the introduction of the NIPT might lead to routinisation of prenatal screening.7 19 20 Routinisation of the decision about prenatal screening means that women or couples do not deliberate their choice for prenatal screening.9 21 In contrast to FCT, NIPT is perceived by many women as a one-step process rather than a multistep process: in FCT, women are offered risk estimates for trisomies 12, 18 and 13, while NIPT is seen as providing yes-or-no answers.7 A one-step process, it is feared, might shorten the time for deliberation about the choice for or against prenatal screening and its implications.

    Women’s informed choice also depends on the way prenatal screening is offered and discussed by healthcare professionals.22 Routinisation is thought to negatively influence counselling and decision-making: professionals may offer less or incomplete information, present prenatal screening as a standard procedure that is offered to all pregnant women as part of standard antenatal care,23 or might even counsel women directively and encourage them to undergo screening.22 It is thought that the easier and more risk-free the test is, the less importance healthcare professionals will attribute to offering adequate pretest information which is thought of as routinisation of pretest counselling.24

    Freedom to choose

    A second cluster of meanings of routinisation includes the obviousness of testing and the consequences of routine testing for a pressure to test and a normalisation of abortion. When prenatal screening becomes routinised, the social norm might become that women should use prenatal screening and that it is responsible to do so, which might generate a social pressure to test.9 Routinisation also refers to normalisation of the termination of affected pregnancies.11 17 When prenatal screening becomes unquestioned, it is suggested, more people will opt for termination of affected pregnancies, not as a result of well-considered choices, but, likewise, as a matter of course, or because of social pressure.11

    It is feared that when NIPT becomes widely available and is less invasive and free from risks these consequences will be enforced.10 11 NIPT might become part of routine procedure in antenatal screening as ‘just another blood test’6 and might be accompanied with an increase in uptake, social pressure to test and an increase in terminations of affected pregnancies.25

    Consequences for people with a disability

    Third, some authors have used routinisation to refer to the consequences of the offer of first-trimester prenatal screening for people with a chromosomal abnormality or other disability. The total number of people with a disability might decrease over time, and this might provoke discrimination and stigmatisation of people with a disability.26 27

    The three clusters of versions of routinisation are not separated but relate to and reinforce each other16: an increase in uptake of first-trimester prenatal screening might lead to an increase in abortions, which might lead to fewer children with Down’s syndrome. This might have consequences for the existing group of people with Down’s syndrome, including discrimination or less or lower quality healthcare. These consequences might also have implications for women’s freedom to choose or decline prenatal screening. The existence of only limited (health)care for people with Down’s syndrome or of a negative public image of Down’s syndrome could pressure women into choosing prenatal screening and into abortions of affected pregnancies.16 Routinisation as used in the literature can thus also refer to more than one version at the same time and these versions can be inter-related or affect one another.

    Analysis of three leading routinisation arguments

    We have seen that routinisation can refer to a variety of ethical concerns related to prenatal screening. Some of these concerns are introduced as arguments in the ethical and societal debate about the introduction of NIPT as a first-trimester prenatal screening test. We will now critically assess three of the most prominent routinisation arguments in relation to the introduction of NIPT: the threat that NIPT poses to informed choice, the potential increase in uptake of first-trimester prenatal screening and its consequences for a pressure to test and abortion rates, and the negative consequences for disabled people. We will examine the validity of these arguments, and see if there is any empirical or normative support for them.

    The challenges of NIPT for informed choice

    The first identified routinisation argument is that NIPT could threaten the informed choice of pregnant women for prenatal screening because of the favourable test characteristics of NIPT. Besides, women might be less aware of potential consequences of prenatal screening, such as unwanted and difficult choices regarding invasive diagnostic testing and the termination of pregnancy.19 Uninformed choices about prenatal screening are normatively problematic because the aim of prenatal screening is to promote reproductive autonomy, for which informed choice is an important requirement.13 Moreover, a high level of knowledge about a test and its implications is associated with an improved psychological management of decisions and a better personal well-being.28

    Informed choice for prenatal screening has been studied empirically, with varying results. Research groups have measured the ‘informedness’ of pregnant women’s or couples’ choices regarding first-trimester prenatal screening, and reported varying outcomes: 51%, 59%, 77.9% and 89% of women or couples, respectively, were found to have made informed choices with regard to first-trimester prenatal screening.21 29–31 Part of the differences in outcomes may be explained by the different methods for measurements employed: some studies measured knowledge, attitude and actual choice29–31 and others also studied the decision-making process and included deliberation in the measurements.21 31 Besides, these studies mentioned limitations related to the feasibility of measuring informed choice. Authors questioned which elements determine informed choice and whether elements of knowledge, value consistency and deliberation should be weighed equally.21 29 This should be taken into account when considering these results in the context of NIPT. However, the empirical studies on informed choice for NIPT indicate that NIPT does not lead to uninformed choices, showing that a majority of women were capable of making informed choices regarding NIPT.30 31 Still, a comparative study suggests that informed choice rates may be lower in routine prenatal care than in a study setting; 89.0% vs 75.6%.32 This difference emphasises the importance of continuous improvement of informed choice in practice. Efforts are under way to train midwives in counselling for NIPT33 and to develop decision aids for pregnant women.34

    In conclusion, recent studies of informed choice do not offer convincing reasons to expect a critical effect on informed choice for prenatal screening. Attention to counselling and information provision may further relieve some of the concerns related. The introduction of NIPT could be an opportunity to continue work on the methodological difficulties of measuring informed choice and the content and quality of counselling.

    NIPT and an increase in the uptake of prenatal screening

    A second prominent routinisation argument is that the introduction of NIPT could lead to an increase in the uptake of first-trimester prenatal screening.11

    Empirical studies that investigated women’s motivations for opting for first-trimester screening support the expectation that the uptake of screening will increase significantly with the widespread availability of NIPT.35–37 Foremost, women take part in screening because they wish to be reassured about the health of their baby,38 and NIPT can facilitate that, free from risk and on the basis of a reliable test result. Women also indicated that they would choose NIPT even if they would not choose FCT, because of the favourable test characteristics of NIPT.5 37 On the other hand, women do not seem to overwhelmingly opt for prenatal screening in all countries. Studies showed that, for instance, in the Netherlands and in the USA, women or couples decline prenatal screening, because they are against abortion or wish to accept a child with Down’s syndrome.35–38 The uptake of screening will not become 100% as long as women are free to decline prenatal screening for these reasons.

    Furthermore, an increase in uptake is not normatively problematic in itself, but becomes problematic when it is caused by a lack of freedom for pregnant women to act according to their own motivations or the existence of (perceived) pressure to opt for prenatal screening. Pressure could arise in the communication with the healthcare professional, the set-up of the screening offer itself and in the social context.9 39 Pressure to test undermines reproductive autonomy and jeopardises the freedom not to participate in screening.13 Reproductive decisions should be the result of autonomous choice, without coercion or control by others.18 Pressure to take part in screening should therefore be counteracted.

    Empirical evidence for the existence of pressure to test is limited. Studies report that some women feared social reactions39 or experienced pressure to accept the test.22 Some women who declined a prenatal test had the feeling that they had to explain or justify their decision to others.40 On the other hand, this does not apply to all women: many women do not experience pressure to test, not by the screening offer itself nor by others.39 40 In the Netherlands, for instance, the uptake of first-trimester prenatal screening is relatively low, under 30%.36 Probably the experience of pressure is highly personal and its causes are complex. Because of the importance of reproductive autonomy further research should be directed at women’s experiences of pressure, the causes thereof and ways to mitigate these.

    An increase in the uptake of prenatal tests is also thought to be problematic because it might result in an increase in the abortion rate, which is a major concern to several groups of people: some believe that abortion is morally unacceptable because of the sanctity of early human life and argue that prenatal screening is questionable by association, as it may lead to abortion.2 Others argue that particularly the selective abortion of children with certain disabilities is a problematic consequence of prenatal screening.27 The concern that NIPT will lead to an increase in abortions is probably premature as research and clinical practice show that there are also women or couples who choose not to terminate affected pregnancies. Instead, they use the information about the health of their fetus to prepare for the birth of an affected child.6 This emphasises the importance of sensitive communication about screening and a responsible set-up of screening programmes, highlighting individual, autonomous reproductive choice as the central measure of success in screening programmes.

    The absence of pressure is also important for another group of people, who may have less principled objections against prenatal screening but may still feel a reaction of disgust (moral intuition or emotion) towards prenatal screening and believe that ‘nature should run its course.’5 They also should be free and autonomous in their choices to decline prenatal screening and abortion.

    To conclude, the expectation that the introduction of NIPT might increase the uptake of prenatal screening because of its benefits can be empirically confirmed. An increase in the uptake of first-trimester screening in itself is not necessarily problematic when women and couples make informed, autonomous choices regarding prenatal screening and follow-up reproductive options. There is little supporting empirical evidence for an increase in social pressure to take part in screening or to terminate affected pregnancies. Further research is needed of public attitudes towards prenatal screening and people with disabilities, and the influence of these attitudes on women’s and couples’ decision-making.

    It is important to note that women’s and couple’s decision-making may be affected by funding arrangements as well. It is sometimes suggested that reimbursement of prenatal screening by the healthcare system may ‘legitimise’ the screening offer and gives women the (false) impression that screening is important and/or necessary, and thus that all pregnant women should or must participate in screening.41 Requiring a (co-)payment from women could help to underline that participation in screening is voluntary and elective. The meaning of this financial barrier merits further discussion, including the ethical implications, for example, for women with limited financial resources, for whom this barrier may not promote but rather restrict freedom to choose with regard to screening.

    Social aspects: consequences for people with a disability

    The third routinisation argument relates to societal consequences of the introduction of NIPT for people with a relevant abnormality. A routine offer of NIPT and a related routine choice for testing and abortion might lead to a reduction in the number of people with Down’s syndrome.3 5 16 42 Parents and pregnant women suggested that a decrease in the number of people with a disability might result in an impoverished care and support system for people with disabilities.3 16 Besides, routinisation of testing might negatively influence public perception of Down’s syndrome.27

    Whether these effects will occur will partly depend on the effect of NIPT on the number of children born with Down’s syndrome. To our best knowledge, these results are not available yet for NIPT. Previous studies on first-trimester screening showed that in Europe between 1990 and 2009, 47% of the pregnancies affected with Down’s syndrome were terminated, but due to an increase in incidence of Down’s syndrome because of an increase in maternal age, the overall prevalence stayed the same.43 Other studies showed a decrease in children born with Down’s syndrome of 28%–50% in the Netherlands and 18%–59% in Western Australia.25 44 Those who fear an increase of the abortion rate refer to the high number of abortions in, for example, Denmark, but due to cultural differences between countries it might be hasty to conclude that in the Netherlands the uptake and abortion rate will increase to the same extent.45 This remains to be seen in practice.

    Another aspect that will influence social consequences of NIPT is the public’s perception of Down’s syndrome. Studies have shown that parents of children with Down’s syndrome experienced negative consequences in their social environment, such as being judged for not having done a test, receiving negative reactions after deciding to continue an affected pregnancy or failing to find help from organisations.16 46 47 More widespread availability of NIPT—and more positive attitudes towards NIPT—may exacerbate such consequences: positive attitudes towards screening have been found to correspond with negative attitudes towards individuals with Down’s syndrome.48 NIPT might thus exacerbate discrimination of individuals with Down’s syndrome. Wider education and information provision about chromosomal abnormalities will be indispensable to build and maintain nuanced public attitudes towards these conditions, and thus help to counter discrimination and stigmatisation. Patients, parents and patient organisations have an important role to play in public education about the implications of chromosomal abnormalities for patients and their families. While it is unclear whether and to what extent public attitudes towards Down’s syndrome and other chromosomal abnormalities will deteriorate with the implementation of NIPT, this is something that can—and should—be monitored over the next couple of years.

    In conclusion, we have discussed three prominent versions of the routinisation argument in the context of NIPT, for which support is limited. Current studies showed high percentages of informed choice and the improvement of counselling, information provision and decision aids might counter potential negative effects of NIPT. Furthermore, the uptake of first-trimester screening may increase with the wide availability of NIPT, which however does not contradict the aim of prenatal screening. It is not yet clear whether NIPT will spur any rising social pressure to participate in screening, and whether this affects women’s freedom to choose to decline prenatal screening. This is an area of concern that will need to be addressed over the next couple of years. The rate of selective abortions might increase as a result of an increased uptake of first-trimester screening, which is considered undesirable by individuals or groups who believe that the intentional termination of a pregnancy is morally unacceptable. This dilemma, however, is not new. Nor is it significantly affected by the introduction of NIPT as compared with existing first-trimester screening programmes, such as the FCT or the 20-week ultrasound.

    Finally, as many arguments under the denominator of routinisation are either not valid or not fully convincing as arguments against the implementation of NIPT, the term routinisation is losing some of its force in ethical discussions. Although the umbrella term routinisation has been exposed as largely ineffectual, its usage does reveal the existence of concerns or fears among stakeholders. Some of these concerns need to be addressed and can be overcome.

    NIPT and the problems that remain: informed choice and an expanded NIPT, and freedom to choose

    We now have seen that routinisation is an umbrella term that is frequently used within the ethical debate surrounding the introduction of NIPT and that it can refer to a variety of concerns. Some of these concerns have an empirical component that can largely or partly be refuted. Other concerns are based on ethical principles or values, such as the sanctity of early human life, and are not new or specific to NIPT nor in any significant way affected by NIPT, which is, in the light of this discussion, simply a more reliable and safe alternative to FCT within existing first-trimester prenatal screening programmes.

    However, our analysis does not provide grounds to discard all concerns related to the introduction of NIPT. From the analysis it follows that at least two ethical issues should be taken seriously when implementing NIPT.

    First, the effects of NIPT on society are an area of concern. For its ease, safety and accuracy, pregnant women may feel pressured to take part in prenatal screening or forced to account for their choice to decline. The feeling of no longer ‘having a good reason not to’ participate in screening may negatively affect women’s freedom to make (autonomous) choices or their experience of this freedom. If women are blamed for bringing children with chromosomal abnormalities into this world or if children are discriminated against or lacking in appropriate healthcare and social support, it will no longer be an (equally) valuable or realistic option to continue a pregnancy following the detection of an abnormality. The precondition of equally valuable options is not met. It should be (and feel) feasible—socially, financially, practically for women and couples to choose not to participate in screening and to carry a child with a chromosomal abnormality to term. Otherwise, participation in prenatal screening is no longer the result of an (autonomous) choice, and the screening programme will not meet its aim: that of promoting reproductive autonomy. NIPT can be seen as an improvement of existing programmes as long as valuable options are created and maintained for children with disabilities and their families.

    Second, informed choice is thought to be affected by the easiness of prenatal screening and by the potential expansion of its scope, which becomes possible with NIPT.13 Genomic sequencing techniques will allow for the detection of other chromosomal abnormalities including microdeletion syndromes like DiGeorge and Prader Willi/Angelman.13 Moreover, women are interested in additional information on microdeletion syndromes and sex chromosome aneuploidies.49 Several studies suggested however that an expanded scope undermines an informed choice because of the quantity and complexity of pretest information, including information test results with unknown clinical significance.6 13 49 Especially sufficient knowledge levels may be difficult to reach in the context of a broad range of abnormalities of varying clinical significance. Further studies should determine whether knowledge is as important to informed choice as are value consistency or deliberation. The weighing of these elements may need to change, and value consistency and deliberation should get more attention in pre-test counselling, in order to counter routine or uninformed uptake of an expanded NIPT.

    Conclusion

    In the ethical debate on the introduction of NIPT, routinisation is used as an umbrella term that is used to refer to various potential negative consequences of the test. When the meaning of the term is unclear, it is difficult to devise or discuss ways to counteract specific negative consequences of NIPT. Unqualified usage of the term routinisation does not serve the debate: rather, the underlying concerns should be specified and made explicit.

    On further consideration, many specifications or versions of the routinisation argument are not valid because they lack empirical or normative foundations. Empirical studies have shown, for instance, that there may be no need to fear an increase in the uptake of screening or a significant threat to informed decision-making among pregnant women or couples. Furthermore, an increase in uptake is not normatively problematic in itself. This paper directs attention to two areas of serious concern related to the wider availability of NIPT and its potential expanded scope, and suggests ways of mitigating these concerns. High-quality pretest counselling focusing on attitude consistency could help safeguard informed, autonomous choice. Also, reproductive autonomy can only be achieved as long as declining participation in screening and carrying an affected pregnancy to term remain realistic options for pregnant women and their partners. This means that support and care systems for disabled people should be in place and that social pressure to test or to terminate an affected pregnancy and stigmatisation should be actively counteracted through public education and information provision about chromosomal abnormalities.

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    Footnotes

    • R-JHG and EMB contributed equally.

    • Contributors AKK and EMB designed the study. AKK conducted the literature study. AKK and EMB drafted the manuscript. IDB and R-JHG critically revised the manuscript for important intellectual content. All authors have read and approved the final manuscript.

    • Funding This study is a result of a research project ‘Towards an ethically robust scope of NIPT’ which was funded by ZonMw, project number 731010019.

    • Competing interests None declared.

    • Patient consent Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data sharing statement No additional data available.

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