Down's Syndrome Screening and Reproductive Politics

Care, Choice, and Disability in the Prenatal Clinic

Gareth M. Thomas

• Publisher: Routledge
• Year: 2017
• ISBN:
  9781317338208
• Edition: 1
• Topic: Medicine
• Subtopic: General Health

Nominated for the Foundation of Sociology of Health and Illness Book Prize 2018

In the UK and beyond, Down's syndrome screening has become a universal programme in prenatal care. But why does screening persist, particularly in light of research that highlights pregnant women's ambivalent and problematic experiences with it?

Drawing on an ethnography of Down's syndrome screening in two UK clinics, Thomas explores how and why we are so invested in this practice and what effects this has on those involved. Informed by theoretical approaches that privilege the mundane and micro practices, discourses, materials, and rituals of everyday life, Down's Syndrome Screening and Reproductive Politics describes the banal world of the clinic and, in particular, the professionals contained within it who are responsible for delivering this programme. In so doing, it illustrates how Down's syndrome screening is 'downgraded' and subsequently stabilised as a 'routine' part of a pregnancy. Further, the book captures how this routinisation is deepened by a systematic, but subtle, framing of Down's syndrome as a negative pregnancy outcome. By unpacking the complex relationships between professionals, parents, technology, policy, and clinical practice, Thomas identifies how and why screening is successfully routinised and how it is embroiled in both new and familiar debates surrounding pregnancy, ethics, choice, diagnosis, care, disability, and parenthood.

The book will appeal to academics, students, and professionals interested in medical sociology, medical anthropology, science and technology studies (STS), bioethics, genetics, and/or disability studies.

Chapter 1

Introduction

It is over 150 years since John Langdon Down, an English physician, first described a group of people with a condition now known as Down’s syndrome (or Trisomy 21). Down’s syndrome is one of the most common chromosomal conditions in the world, affecting approximately one to two of every 1,000 live births in England and Wales alone. People with Down’s syndrome are likely to have a range of symptoms including learning difficulties, shortened limbs, reduced muscle tone, restricted physical growth, a flat facial profile, and a large protruding tongue, though symptoms and prognosis vary in each case. Indeed, Down’s syndrome does not ‘cut all children to one mould’, with the relationship between genotype and phenotype being ‘lacy and intricate’ (Bérubé 1996: 20–21). Whilst a common feature of Down’s syndrome is the variability and inconsistency of its manifestation, the condition is often clinically defined as ‘compatible with life’,¹ meaning that individuals are likely to survive childbirth and can survive beyond sixty years of age (CARIS 2012).

Down’s syndrome currently occupies a central position in reproductive politics, particularly in the global North. Prenatal screening for the condition is now a universal programme which has come into ‘routine use, becoming embedded in, we might say, a social matrix’ (Cowan 1994: 36). Whilst predicted advances of genetic screening generally may be more modest than initially expected, the range of available screening techniques for Down’s syndrome and other conditions, such as Edward’s syndrome (or Trisomy 18) and Patau syndrome (or Trisomy 13),² has steadily expanded in the UK, with parents-to-be³ increasingly making use of techniques to assemble knowledge about the health status of a foetus/baby.⁴ According to the most recent statistics, roughly 74% (N=542,312) of all parents-to-be accessing NHS services in England and Wales in 2011 opted to be screened for Down’s syndrome (NHS FASP 2012), although statistics vary significantly between countries (Vassy et al. 2014).⁵

The uptake in prenatal screening has increased annually in England and Wales since 2007 (53%). Whilst 2008 and 2009 saw uptake rates of 57% and 62% respectively, an uptake rate of 70% was recorded in 2010 (NHS FASP 2012). This differs from other countries, such as the Netherlands, where uptake rates vary from 38% to 86% (van den Berg et al. 2005a) and Japan where less than 2% of all pregnant women were screened (Nishiyama et al. 2013).⁶ The increase in UK uptake rates may be attributable to the recent increase in maternal age (an increase in maternal age is the only known attribute increasing the chance of a foetus being diagnosed with Down’s syndrome), the risk of miscarriage decreasing on account of increasingly proficient screening technologies, and service supply factors since all mothers-to-be (rather than just mothers-to-be aged thirty-five and above, as in earlier years) are now offered screening for the condition (NHS FASP 2012; ONS 2011). In addition, a report conducted by the National Down’s Syndrome Cytogenetic Register (NDSCR) claims that in 2013 in England and Wales, of the 1,232 prenatal diagnoses of Down’s syndrome, 90% were terminated (N=925), 8% were live births (N=82), and 2% were natural miscarriages or stillbirths (N=20); the outcome of 205 prenatal diagnoses is unknown (Morris and Springett 2014). The proportion of terminations following a diagnosis of the condition in England and Wales has remained steady for over twenty years. From the first report in 1989 until 2013, the annual rates for termination in England and Wales have ranged from 89% to 95% (the mean rate is 92%). Buckley and Buckley (2008) claim, however, that there has been an increase of 25% over fifteen years of babies with Down’s syndrome being born, suggesting that this is because parents-to-be are having children later in life when the chance of having a baby with Down’s syndrome increases.

Thus, despite the heavy investment in screening and diagnosis,⁷ the birth rate has not fallen but what has been avoided is an increase in the number of babies with the condition which may have otherwise resulted (Shakespeare 2011), with around nine out of ten prenatal diagnoses of Down’s syndrome ending in a pregnancy termination. This corresponds to the work of Boyd et al. (2008) who claim that ten out of eighteen European countries have an average termination rate of 88% after a prenatal diagnosis of Down’s syndrome. Similarly, in areas of Australia and select US states, the termination rates following a diagnosis are reported as 95% (Collins et al. 2008) and 74% (Natoli et al. 2012) respectively. However, it is crucial to remember that many countries do not track termination rates for Down’s syndrome on a national scale, with this likely being related to local variations in laws (e.g. if a termination of pregnancy for ‘foetal abnormality’ is legally possible).

Previous research

When considering these statistics, it is clear just how centrally Down’s syndrome screening is located in reproductive (bio)politics in the UK and beyond. My book is dedicated to unpacking this practice by drawing on an ethnographic study of Down’s syndrome screening in two UK prenatal clinics. Whilst studies have examined the social significance of diagnostic testing for Down’s syndrome (Browner and Preloran 1999; Bryant et al. 2006; Crang-Svalenius et al. 1998; Markens et al. 2010; Rapp 2000) or used the terms screening and diagnostic testing interchangeably (Green and Statham 1996; Jaques et al. 2004; Kaiser et al. 2004; Marteau 1995; Press and Browner 1997), I focus exclusively on screening for the condition, arguing that this merits critical attention in its own right. This topic has previously been the subject of academic consideration. Such work derives from many different countries (and so diverse social, cultural, economic, political, and medical contexts), uses both qualitative and quantitative methods (rarely together), focuses on screening at different periods of gestation, and stems from scholarly roots such as sociology, public health, medicine (midwifery, nursing, genetics), anthropology, psychology, and bioethics. However, most studies can be categorised as examining two core interrelated aspects of Down’s syndrome screening.

First, a proliferation of studies explore decision-making process of parents-to-be and why they do or do not participate in screening.⁸ Whilst many of these accounts understand consenting to Down’s syndrome screening as a result of rational decision-making processes, others show how screening can be an instance of conformity rather than an expression of choice (Chiang et al. 2006; Gottfreðsdóttir et al. 2009; Markens et al. 1999; Marteau 1995; Pilnick 2004; Pilnick et al. 2004; Press and Browner 1997; Santalahti et al. 1998; Sooben 2010; Williams et al. 2005). This corresponds to parents-to-be interpreting screening as a recommended part of pregnancy surveillance (Hunt et al. 2005; Vassy 2006), how they view professionals’ offer of screening as endorsing its acceptance (Heyman et al. 2006; McNeill et al. 2009; Remennick 2006), and how ultrasound scans can be viewed, first and foremost, as offering a chance for meeting the baby and for making a pregnancy seem more real rather than for prenatally detecting genetic conditions (Draper 2002; Gammeltoft and Nguyén 2007; Heyman et al. 2006; Lupton 2013; Mitchell and Georges 1998; Reed 2012). In a similar vein, Tsouroufli (2011) claims that parents-to-be opt for screening as a routine aspect of prenatal care because of their prompt processing in the hospital, because professionals endorse it as a safe test (no chance of miscarriage), and because professionals expect that they will opt for the procedure.

For Baillie et al. (2000), the naturalisation of Down’s syndrome screening as a ‘normal’ part of pregnancy means that parents-to-be are not always aware of, or prepared for, the complex information and heavy choices associated with a screening result. Many studies, indeed, report how screening prompts feelings of fear and anxiety among parents-to-be before, during, and/or after receiving a result (Aune and Möller 2012; Green and Statham 1996; Ivry 2006; Markens et al. 1999; Marteau 1995; Pilnick et al. 2004; Remennick 2006). Strategies of managing and negotiating results include developing interpretations via metaphors (Burton-Jeangros et al. 2013) or remaining emotionally detached from a foetus in the event of decisions needing to be made around a termination of pregnancy (Remennick 2006; Williams et al. 2005). This literature demonstrates, in short, that whilst parents-to-be perhaps engage with screening to abate anxiety and receive reassurance, it can also have the opposite effect.

Second, a cluster of studies on Down’s syndrome screening report on the interactions between parents-to-be and professionals, particularly concerning discrepancies of knowledge directed at the level of the intertwining rhetoric of ‘informed choice’ and ‘non-directive care’. These concepts translate to professionals tendering medically-accurate information to parents-to-be detached from personal biases. In this context, reproductive technologies are heralded as a route to liberation since they offer parents-to-be information about, and control over, their offspring (García et al. 2008; Seavilleklein 2009). However, others show that this is not always empowering (Lippman 1994; Pilnick 2008; Rapp 2000; Rothman 1986; Williams et al. 2002c). Several studies claim that parents-to-be do not perceive their care as non-directive since the provision of information is interpreted as an explicit instruction (Browner et al. 1996; Hunt et al. 2005; Lippman 1991; Williams et al. 2002c) or as coercive and directive as opposed to being passive and facilitating (Marteau et al. 1993; Tsouroufli 2011).

Others explore how professionals encounter difficulty in remaining non-directive and ensuring informed choice when communicating information on Down’s syndrome screening (García et al. 2008; Heyman et al. 2006; Pilnick et al. 2004). This stems from needing to balance both professional and private values (Anderson 1999; Farsides et al. 2004; Williams et al. 2002a), the conflict between the time professionals have to explain screening and the time they need to discuss the procedure (Sooben 2010; Vassy 2006; Williams et al. 2002a), the trouble of conveying information and the practical/ethical aspects of screening (Burton-Jeangros et al. 2013; Ekelin and Crang-Svalenius 2004; Heyman et al. 2006), communication breakdowns when the first language of parents-to-be is not the native language (Hey and Hurst 2003), and the different definitions between parents-to-be and professionals of what constitutes a ‘normal result’ and/or a ‘normal child’ (Hunt et al. 2005; Williams 2006). In addition, research identifies how professionals sometimes do not know how to best support parents-to-be (Getz and Kirkengen 2003; Williams et al. 2002a), how some parents-to-be are not aware of the key features of Down’s syndrome prior to screening and testing (Williams et al. 2002e), and how they may not fully understand or have realistic expectations of screening (Burton-Jeangros et al. 2013; Gammons et al. 2010; van den Berg et al. 2005b).

This important literature identifies how the development and diffusion of prenatal screening techniques has triggered critical debates around the seemingly contradictory aspects of offering reproductive choice to – and prompting social, legal, and ethical dilemmas for – parents-to-be. This means that parents-to-be, in receipt of vital information about a pregnancy, must make serious life decisions frequently on the basis of partial knowledge (Franklin and Roberts 2006; Rapp 2000; Rothman 1986). The substance and contribution of such studies is irrefutable, yet existing insights can be subjected to a number of criticisms. First, several important voices are missing or, at least, muted. As well as studies neglecting the experiences of fathers and older mothers (i.e. those clinically defined as being of ‘advanced maternal age’), the research that is chiefly focused on healthcare professionals with respect to Down’s syndrome screening generates a relatively undersized literature (for exceptions, see: Ekelin and Crang-Svalenius 2004; Farsides et al. 2004; McCourt 2006; Samwill 2002; Ternby et al. 2015; Williams et al. 2002a; 2002b; 2002c; 2002d; 2002e). Second, studies are mostly based on retrospective accounts of parents-to-be and professionals. They do not, as such, explore the mundane aspects of, and meaning-making practices in, medical encounters with respect to Down’s syndrome screening. By de-contextualising context-specific situations and relying on romantic conceptions of a rational experiencing individual, such work is rarely grounded in ethnographic data that captures how screening is enacted, managed, and negotiated by both professionals and parents-to-be in everyday routines (for exceptions, see: Ivry 2006; 2009; Pilnick 2004; 2008; Pilnick and Zayts 2012; Schwennesen and Koch 2012).

Third, research on Down’s syndrome screening seldom discusses the condition and, in so doing, subscribes to medical definitions of Down’s syndrome and disability. Sooben (2010) identifies how professionals describe Down’s syndrome during consultations and Bryant et al. (2006) similarly argue that prenatal settings currently provide little opportunity for people to discuss and explore their beliefs about disability. Yet too little research has involved exploring how Down’s syndrome, and disability more generally, are discussed within screening consultations and how accusations that screening fosters a belief that Down’s syndrome should be prevented (Alderson 2001; Vassy 2006) play out in the clinic. This critique extends to analyses of reproductive practices and how values around disability are enacted in medicine (Latimer 2007; Rapp 2000; Shakespeare 2006) and, in turn, how scientific and medical advances promote a clear definition of which people should and should not live (Lippman 1994; Parens and Asch 2000; Rothman 1998; Wasserman and Asch 2006). Many accounts, however, frame disability as a universal category.⁹ Davis (1995: xv) argues that the totalising tag of disability is an extraordinarily unstable category that denies bodily variation; ‘the category “disability” begins to break down when one scrutinises who make up the disabled’. Research on prenatal screening for Down’s syndrome, in turn, mostly operates within a model that obscures the complexity of different and distinctive conditions (such as Down’s syndrome). What is missing, then, is critical research which unpacks these universal terms that create rigid categories of existence.

The book

This book – drawing on an ethnographic study of screening for Down’s syndrome in two prenatal clinics (Freymarsh and Springtown) – bridges many of the gaps outlined above. In this account, I attend to the everyday practices and relations of professionals working in prenatal medicine and explore how Down’s syndrome screening is ‘done’ (Garfinkel 1967) in the clinic, a site in which social, cultural, and political effects are accomplished. Taking the micro and mundane seriously, since it is through these that meanings are circulated, I show how a close ethnographic reading of everyday life in clinical settings unmasks the ongoing, complex, and different ways in which knowledge, meanings, and positions are reproduced in medical encounters. In addition, considering the context of screening,¹⁰ I show how Down’s syndrome is embroiled in the broader trend of surveillance medicine together with debates around pregnancy, ethics, family, parenthood, diagnosis, care, and disability. By unpacking the complex relationships between professionals, parents-to-be, technology, policy, and clinical practice, the book captures how the successful routinisation of a biomedical technology occurs and how this reconstitutes ...