On the 8th and 9th of June the team attended a conference in Paris, with the translated English title: ‘Birth through the prism of disability - Historical, contemporary and comparative perspectives relating to the practices and experiences of prenatal diagnosis’. Details of Felicity’s presentation from her SMA study are given below.
The conference brought together ‘the perspectives of researchers, professionals and support group representatives to gain insights into the way technological developments, public policy and professional norms impact upon the practices of prenatal diagnosis and individuals’ experiences’.
Prenatal diagnosis practices and experiences were examined from different perspectives: ‘first, in the light of the globalisation of technical innovation and the circulation of skills and knowledge, and how these impact upon local care provision; second, through the requirements of evidence-based medicine, the democratisation of health and growing legal accountability of clinicians and how these influence professional practice. A strong emphasis was put on the experiences of women and couples who are faced with difficult decisions (often surrounded by uncertainty) and in particular on their cognitive, moral and emotional experiences. Finally, the way biomedical or clinical markers are extrapolated into future experience of disability were explored as well as what prenatal diagnosis practices reveal about perceptions of disability experience’.
The knowledge and experiences shared during this conference provided ‘insights into the way the tensions between normative scientific and ethical expectations, on the one hand and the organisational constraints on the other hand, reshape the relationship of care in clinical practices; the aim being to broaden social debate, still currently limited to medical, scientific and administrative experts’.
The conference began with an introduction by Isabelle Ville. She reported that there is not enough discussion about prenatal diagnosis in France, and what discussion there is, is all between experts and focuses on technical aspects. There is not much discussion about prenatal diagnosis from an individual or social point of view; Public Health and prevention of disability is still the priority.
Historian, Ilana Löwy, talked about the history of birth defects and the long history of trying to anticipate and diagnosis prenatally using visualizing technologies. She reported that people used to have to rely on pedigree of partner’s family until x-rays were used to visualise foetuses in the 1940s. Amniocentesis was introduced in the 1950s and during this decade the negative impact of x-rays on the foetus was realised. Prenatal diagnostic technology became widespread from the end of the 1960s, when the culture of foetal cells was introduced. The late 1960s and early 1970s saw the decriminalisation of abortion in many countries and abortion was a social innovation, as well as medical innovation, in the 1970s and 1980s. This was followed by, between 1970 to 1980, the gradual extension of the use of prenatal diagnosis for the detection of hereditary diseases and aneuploidies – especially Trisomy 21. The mid 1980s saw the introduction of serum tests for those with increased risk of foetal anomalies. With the development, of new tools and technologies, ultrasound became main tool of diagnosing foetal anomalies. The driving test of prenatal screening was detection of Down Syndrome (screening for this was seen as unproblematic). The rising life expectancy of people with Down Syndrome was viewed as a Public Health problem, with the only solution, screening all women (not only older ones). Ilana reported a switch from diagnosis of a small number of hereditary conditions to the testing of all pregnant women. The risk number increased and there was a transformation of pregnant women into rational managers of foetal risks, with prenatal diagnosis becoming the “standard of care” in many settings in the majority of industrialised countries but there are important local variations in use.
The “Risk of disability” became a private management of a public health problem of disabled children and adults. Ilana outlined that some tests only offer a diagnosis of ‘risk’, not of a condition, and that studying gene deletions has increased the level of uncertainty dramatically because the wide variety of effects, even among same family, means termination decisions are extremely difficult decision to make.
She also reported that non-invasive prenatal testing (NIPT) is being implemented massively in the UK and is complicated by the private market where recommendations cannot be enforced. In the US, there are even more dilemmas for women because they can choose what they test for. In Brazil, the market is very active and NIPT is proposed in private clinics – to have peace of mind – to encourage women to have comprehensive testing.
Finally, Ilana pondered whether in the future we will be lost in a torrent of data and information.
Louise Bryant’s presentation, ‘It’s not just about the info: facilitating informed decision making for women offered prenatal testing’, suggested that the immediate social context of the encounter between midwife and pregnant woman may have significant impact on screening uptake; for example, the ambiance of the clinical environment, the medicalised setting, asymmetric power relationships and knowledge, and trust in health professionals. She also considered how the language and structure of the conversation between the health professional and the woman may play a significant role in the decision that is made about prenatal testing. Louise emphasised that facts are not neutral and that information is emotion laden, which means that while informed consent is lovely in theory, it is very difficult to achieve in practice. She proposed several actions to managing the conversational ‘racetrack’ and new training about NIPT for midwives in order to make informed consent more realistic.
Lisa Crowe considered ‘Directive and non-directive counselling after a diagnosis of foetal anomaly’ and found that non-directive counselling is a very difficult achievement, and, in fact, may not be possible. In addition, health professionals may not view directive counselling as the opposite of non-directive counselling. Furthermore, parents do not always think the non-directive is appropriate. Lisa proposed that more research to define the gap between directive and non-directive counselling is needed and that medical guidelines need to recognise the spectrum in directedness of counselling, and in the needs and wants of parents.
Carine Vassy’s presentation, ‘From policy making to service use – DS antenatal screening in England, France and the Netherlands’, looked at the variation in prenatal screening rates for Down Syndrome in England, France and the Netherlands. National uptake rates for screening test in 2013 were 87% in France, 61% in England 61% and 27% in the Netherlands 27%. Carine proposed that this situation is a little odd, given that the ethical framework is similar in all three countries and that policies have converged. Her study revealed that the main factors for these differences are the sociotechnical settings (i.e. the features of the local health system and of the national screening programme) which affect the interactions in consultations and thus screening decisons. In France, pregnancy has been strongly medicalized for a long time, there is a focus on risk assessment, some compulsory screening tests, little information on Down Syndrome screening and some directive communication. In contrast, there is non-directive counselling in England and the Netherlands, and fewer women are considered to be at risk and therefore offered amniocentesis. Carine reported that there is little time for practitioners to talk – England 60 minutes (4.49 minutes about screening), France 30 minutes (3.09 minutes), Netherlands 60 minutes (6.35 minutes) - and little time for French patients to read the informed consent form which the health professional needs to be signed during that consultation (there is no such obligation in England and the Netherlands). Carine concluded by asking what will change with NIPT and the guidelines of the National Authority for Health. She highlighted that in France there is no funding for training – no change and no change to duration of consultation – and that the French Health Authority recommends that the risk threshold be lowered to 1-1000. As a result, 30,000 more pregnant women will be placed in high risk category and offered amniocentesis with full karyotyping.
Marc Dommergues’ presentation ‘Prenatal diagnosis, how to manage uncertainty’, proposed that there is uncertainty at every level of screening, both official and parental. Furthermore, there is still uncertainty if disease is diagnosed. Therefore, there are different stages and levels of uncertainty.