Before Birth

Understanding Prenatal Screening

Elizabeth Ettorre

• Publisher: Routledge
• Year: 2017
• Print ISBN: 9781138726260
• eBook ISBN: 9781351752244
• Edition: 1
• Topic: Social Sciences
• Subtopic: Social Work
• Index: Social Sciences

This title was first published in 2001. Featuring contributions from the UK, Finland, The Netherlands and Greece, this unique book explores the ongoing tensions and important ethical, legal and social issues related to the development of prenatal screening and the growth of new genetic technologies.

1 A European project on the development of prenatal screening

ELIZABETH ETTORRE

Introduction

Before Birth reports on a series of empirical studies that have come out of a research project, ‘The development of prenatal screening in Europe: the past, the present and the future’ which was funded by the European Commission from 1996–1999 (contract number BMH4-CT96-0740). The researchers in this project studied prenatal technologies in a variety of settings. In this introduction, I will 1) review briefly the terms, prenatal screening and prenatal diagnosis, which are used in this book; 2) describe the history of the project as well as highlight key ethical issues and benefits linked to it and 3) outline the structure of this book.

Prenatal screening is the programmatic search for foetal abnormalities such as congenital malformations, chromosomal disorders, neural tube defects and genetic conditions among the asymptomatic population of pregnant women. The various methods of prenatal screening are advanced maternal age, biochemical screening for neural tube defects and Down’s syndrome, ultrasound and screening for recessive conditions such as haemoglobinopathies (i.e. sickle cell disorders, beta thalassaemia major, etc.) that involves genetic tests (Marteau, Shaw and Slack, 1994). Through prenatal screening, women in high-risk groups are identified for additional testing.

Prenatal diagnosis is undertaken to determine whether a pregnant woman with a foetus considered to be at risk of being abnormal by the screening process does, in fact, carry a foetus with the disorder in question. The methods of prenatal diagnosis include second trimester ultrasound screening, amniocentesis or chorionic villus sampling (CVS). In biomedical terms, the primary aim of prenatal diagnosis is ‘to provide an accurate diagnosis that will allow the widest possible range of informed choice to those at increased risk of having children with genetic disorders, within the boundaries established by society’ (Advisory Committee on Genetic Testing, 2000).

Traditionally, pregnant women were routinely screened for Rhesus factor, HIV, diabetes, etc. However, since the late 1950s, prenatal screening and diagnosis of pregnant women for the detection of foetal abnormalities has increased dramatically (Farrant, 1985; Reid, 1991; Rothenberg and Thomson, 1994). This increase has been aided by the development of new medical technologies, specifically technologies of the new genetics, which aim at the avoidance of common genetic diseases (Wetherall, 1991). Current everyday practice in maternity health care now includes the above mentioned prenatal technologies. This practice of looking for foetal health will be intensified with the potential development of new prenatal genetic techniques such as analysis of foetal cells in maternal blood, predicted to be available in the near future (Al Mufti et al., 1999).

While the public may have a favourable attitude towards the general availability of prenatal screening and genetic testing, a commonly expressed reaction among some groups of disabled people is that test results might lead to some form of social discrimination (Shakespeare, 1995; Gillam, 1999; Bricher, 1999). In this context, Chandler and Smith (1998) argue that not only does prenatal screening have discriminatory effects on disabled people but society risks promoting ‘a culture of perfectionism’ in trying to eradicate disability through this type of screening.

In most Western countries, it is quite commonplace that if a malformed foetus is detected, the pregnant woman is told this information and she is offered the option of a selective abortion (Asch et al., 1996). Nevertheless, some pregnant women may experience distressing consequences in their experience of these techniques (Tymstra, 1991; Rothman, 1994, 1996, 1998a and 1998b; Markens, Browner and Press, 1999).

If women are autonomous in the process of prenatal screening, these screenings should support or at least facilitate their reproductive rights (Gregg, 1995). In this area, women have internalised given social expectations concerning the physical condition of their pregnancies (Green, 1990). But, if they are not autonomous within prenatal screening procedures, they may experience themselves as being used as foetal containers or have ‘the feeling that their pregnancy is only provisional until the foetal quality control investigations have been reported as satisfactory’ (Clarke, 1997, p. 124).

As a result of prenatal screening, traditional thinking about midwives as specialists in caring for pregnant women has changed. These new technologies have created personal and professional conflicts in relation to the dilemmas raised by screening (Ryder, 1999). As far as physicians are concerned, their growing role in the field of prenatal care has been studied, as pregnancy has become increasingly medicalised (Oakley, 1984; Graham and Oakley, 1986). In the context of primary care, Fry (2000) has argued that primary care providers need to look beyond a traditional medical model for screening to examine pregnant women in the context of their families and experiences. In order to make informed choices about prenatal screening, pregnant women need constructive, personal relationships with their health care providers (Carroll et. al., 2000).

One major reason presented for prenatal screening is the prevention of those who are referred to as ‘mentally impaired’. On a global level, this group represents the largest group of disabled people and the prevalence of this type of disability was found to be about one per cent in Western countries (Fryers, 1984). It has been suggested that in theory 20–30 % of all cases of this type of disability could be avoided with prenatal screening (i.e. selective abortion) (Marteau and Drake, 1995). One could speculate on a theoretical level that the figure would be much higher, if a ‘perfect’ gene map could be defined for every foetus. Gottweis (1997) suggests that these sorts of ideas and practices emerge from ‘a discourse of deficiency’ in which the writing of life on a subcellular level is done in terms of ‘absences’ and ‘improvables’.

Prenatal technologies are ethically the most problematic applications of genetics (Henn, 2000). Thus, there is a need to evaluate the relevance of new prenatal technologies and to frame these evaluations within an ethical context (Willis, 1998; Ettorre, 1997, 1999, 2000). More research which is multifaceted, deals with issues central to the new genetics and helps to inform health policies on prenatal screening programmes is required (Kaufert, 2000).

The chapters in this book represent an initial step, albeit small, in providing this type of research.

The EU project on prenatal screening

The research project upon which this book is based began when a group of Finnish researchers, interested in the developments of genetic technologies and the ethical, legal and social impact of these technologies, met in 1994. From these meetings, an interest grew in developing a research protocol for submission to the European Commission BIOMED 2 programme. Given that Finland was preparing to join the European Union in 1995, this was seen as an excellent opportunity to apply for research funds from the European Commission. As the Finnish researchers initiated the research partnership, they explored their links with European contacts. Gradually, they established a base for European collaborative work for this three-year research project. The research project included seven research institutions from four countries: England, Finland, The Netherlands and Greece. Funding for the project began in June 1996.

The project aimed at identifying the main ethical, legal and social issues related to the development of prenatal screening in Europe in order to inform public policies in the fields of public health and biomedicine. With regards the current state of the art, it attempted to anticipate the potential problems inherent within these developments; yield an early caution for new concerns and recognise fundamental values that could be the basis for a needed consensus.

The main objectives of the project were the following:

• To provide a comprehensive view on the relevance of prenatal screening for health care systems; theoretical analyses of these types of procedures with special reference to new developments; and coverage of the basic information needs and state of debate concerning the ethical implications of new developments;

• To identify the ethical and legal work being carried out in this area;

• To review the role of key players influential in public debates;

• To solicit the views of both medical practitioners and midwives in order to find out their professional opinions on prenatal screening as well as their ethical and related concerns;

• To study women who have experienced prenatal screening in order to examine their decision-making processes;

• To assess the information needs of professional groups as well as lay people;

• To gather information on the attitudes towards prenatal screening of adults with a congenital condition which can be screened for ‘prenatally’; and

• To identify the areas in need of further research and requiring public discussion.

Ethical issues in the European research

Health researchers gather sensitive material, such as health information, personal and social characteristics, attitudes towards and experiences of health care, stories of pain and suffering and so on. In health care research, sensitivity to respondents’ anonymity and confidentiality should be protected. To ensure this type of sensitivity to respondents, the following steps were taken:

• Questionnaire survey data were anonymous and thus, the question of confidentiality did not arise. If subjects were traced through the health care system, patients were selected by medical personnel and participated voluntarily.

• In interview data, respondents were protected by the principle of confidentiality. All personal data was treated as confidential amongst the researchers.

• Asking questions of a difficult nature did raise anxiety in some instances. However, given that questioning was done with care and consideration of respondents’ needs, these data gathering exercises enabled respondents to deal more effectively with anxieties and stresses.

• All studies had ethical approval from their local research institutions to carry out this work.

Given that the research project included an inter-disciplinary team of researchers, the work cuts across a variety of areas and can be viewed as multidisciplinary. Thus, it should appeal to scholars, researchers, and professionals with an interest in public health, sociology of health and illness, the new genetics, prenatal care, biomedical ethics, gender studies and social and health policy. It should also appeal to those professionals in training or engaged in clinical work as well as students in the above mentioned fields; research scientists carrying out studies in the field of genetics; medical students; midwives and nurses.

Benefits of the European research

There are a series of benefits that emerge from this work. In terms of scientific benefits, this project was set within the context of multidisciplinary, cross cultural, health service research. In order to understand the complexities surrounding prenatal screening in Europe, co-ordination of information, joint data analyses, and cross-cultural comparisons were utilised among the research scientists. The project developed from the joint expertise of a group of specialists (i.e. sociologists, psychologists, physicians, midwives, etc.) from the participating countries. The use of common and multiple research strategies has facilitated communication between experts in different cultures and stimulated a consistent level of intellectual exchange amongst scientific collaborators. This has resulted in the production of good quality data both quantitative and qualitative.

Additionally, most, if not all of the studies provided comparative data, allowing for key differences as well as similarities to emerge between countries. The data should help to facilitate recommendations for future developments on prenatal screening in Europe. More importantly, policies can be generated on the basis of comparative analysis between varying cultures but within substantive areas (i.e. bioethics, sociology, medicine, psychology, etc.). Policies can also be derived from baseline data framed within the overall research protocol. The data reflect that there are real, at times, different cultural experiences to be found in all of the research areas.

In terms of public health benefits, the results should heighten the awareness amongst potential users and consumers of prenatal services in Europe and help them to make informed choices in this area.

The research presented in Before Birth

Information in the lay and professional press

In the following chapter, ‘Prenatal diagnosis in the lay press and professional journals in Finland, Greece and the Netherlands’, Michaela Laurén and her colleagues analysed information presented on prenatal diagnosis. In this study, the authors have attempted to create a picture of the state of debate concerning the implications of new developments in each country. This empirical work is based on the assumption that information available in the public domain is relevant to how the lay public and groups of professionals gather knowledge about prenatal technologies. Differences in prenatal diagnostic practices between countries emerged. Furthermore, how the issue of prenatal diagnosis is represented to the public varies in the countries studied. In Finland and Greece, reporting in both lay and professional press was infrequent and marginal, as in the Dutch lay press. The only exception was Dutch professional journals that seem to be a battle ground for the assimilation of a new technology.

In the Greek popular press, the stance towards prenatal diagnosis is practical (i.e. instructions are given to pregnant women) and there exists little if any critical debate in the public domain. The most critical stance towards prenatal diagnosis has been adopted in The Netherlands through the Population Screening Act (Ministry of Welfare, Health and Sport, 1996) and this appears to have affected press reporting in this area. The Dutch stance seemed strikingly different from its otherwise liberal one towards the issue of abortion. In Finland, the rights of disabled people have been contextualised within discussions about prenatal diagnosis. These discussions began from the disabled people themselves, some of whom feel that their existence is threatened by the adoption of prenatal diagnosis and screening. This view was rather marginally represented in the media. Otherwise issues related to prenatal diagnosis were given a relatively low profile. How the issue of prenatal diagnosis was presented in the public domain was linked to cultural issues, such as the role of the media, in each country as well as overall attitudes towards new medical technologies, disability and abortion. Issues related to prenatal screening appeared to have relatively low publicity.

Policies, the law and ethics

In Chapter 3, ‘Review of policy, law and ethics’, Konstantinos Petrogiannis and his colleagues describe the regulatory framework, the debates, some of the actors and events that are involved in the shaping of prenatal screening technologies in each of the four participating countries. The authors examine policies, laws, official guidelines and public debates related to prenatal screening and investigate the state of the art in each country. The findings reported provide ‘a snapshot view’ of some of the ethical and legal work being carried out as well as the relevance of prenatal screening for health care systems at the time of the study.

Two thirds of Finnish municipalities offered maternal serum screening (MSS) for all pregnant women in 1995. In addition, there have been two prenatal genetic screening programmes. No laws especially on prenatal screening existed, but through 1990’s there have been efforts, through official and semi-official groups and taskforces, to formulate recommendations and guidelines for prenatal screening and to raise discussion amongst the public. In Greece, prenatal diagnosis and screening for thalassaemia was fully covered by legislation, scientific directiv...

Table of contents

• Cover
• Half Title
• Title Page
• Copyright Page
• Table of Contents
• List of contributors
• 1 A European project on the development of prenatal screening
• 2 Prenatal diagnosis in the lay press and professional journals in Finland, Greece and The Netherlands
• 3 Review of policy, law and ethics
• 4 Experts’ views on prenatal screening and diagnosis in Greece, The Netherlands, England and Finland
• 5 Physicians’ opinions of genetic screening: Comparisons in Finland and Greece
• 6 Prenatal diagnosis and screening in Europe: attitudes, practices and opinions of midwives
• 7 Women’s decision-making and experiences of prenatal Down’s syndrome screening
• 8 Whose fault is it? Shame and guilt for the genetic defect
• 9 Prenatal genetic screening: The Finnish experience
• 10 Living with a congenital condition: the views of adults who have cystic fibrosis, sickle cell anaemia, Down’s syndrome, spina bifida or thalassaemia
• 11 Tt’s like peeking into a Christmas gift and then deciding if you want it or not’
• 12 Eugenics: What is in a word? Eleni Valassi-Adam