Workpackage 7:

Ethical aspects of non-invasive prenatal diagnosis and neonatal screening 

1. To assess the extent to which current services for prenatal tests facilitate parents making informed choices in Northern and Southern Europe and Asia.
2. To consider the extent to which informed choice in the context of prenatal and neonatal testing is a universally held value in general populations and health professionals.
3. To assess the extent to which the introduction of NIPD may erode the making of informed choices by altering beliefs about pre-test counselling?
4. To provide a comprehensive evaluation of ethical tensions in NIPD and screening.
5. To ascertain at what level of accuracy the benefit of removal of the procedure related risk is likely to outweigh the ‘risk’ of a reduction in detection rates.

Objective 1: Written information studies
An evaluation of written patient information about prenatal screening tests offered in different countries was conducted to address objective I. This comprised a content analysis of information prepared in a number of European and Asian countries on screening for two conditions: Down’s syndrome and Thalassaemia. SAFE partners and other relevant contacts were approached and asked to assemble copies of patient information about screening for Down’s syndrome and thalassaemia offered in their country. This approach provided us with leaflets from seven countries (the Netherlands, UK, Greece, Italy, Israel, India, Italy and China). Leaflets not in English were translated by a commercial translation agency and translations were proof-read by a second qualified translator.
Sentences that related to choice to undergo screening or provided information about Down’s syndrome and thalassaemia were extracted, counted and analysed further. Variation in length between leaflets was accounted for by determining the proportion of sentences that communicated either choice or information about the condition in each leaflet. In the Thalassaemia study a further distinction was made between sentences that explicitly or implicitly conveyed choice following a coding frame that we developed. Sentences were classified as explicit if the two following criteria were met: 1) the sentence contained the word ‘choice’ or a synonym thereof (e.g. option, decision, alternative) in relation to undergoing testing; and, 2) the sentence clearly communicated that the choice was that of the pregnant woman or parents and not the health care professional. Statements were considered implicit if they could be interpreted as conveying choice in relation to prenatal screening, including testing to establish carrier status, but did not meet the ‘explicit choice’ criteria. Sentences containing information about the condition itself included statements describing clinical characteristics of Down’s syndrome and thalassaemia such as the nature of the disease, its symptoms, treatment, and what life is like for someone with Down’s syndrome/thalassaemia. These were coded as positive, negative or neutral and encapsulated both the content of the sentence and the sentence’s tone or “slant”, attempting to capture the message conveyed. Results suggest that the extent to which written information on both Down’s syndrome and thalassaemia facilitated informed choice is variable. Choice was more heavily emphasised in leaflets from Northern Europe than in leaflets from Southern Europe and Asia.

Objective 2: The Values Survey
A values survey comparing and contrasting values attached to informed choice in the context of prenatal testing was conducted to address objective II. The study concentrated on two groups of respondents, the general population and obstetricians, and was sampled in six countries: UK, Netherlands, Italy, Greece, India and China. A research agency was commissioned to collect the data from the general population through face to face interviews in all six countries. Consistent with the findings generated by the written information studies, the results suggest that the making of informed choice is not greatly valued beyond Northern Europe. Data from obstetricians were collected via a postal survey. Contact details were obtained with the help of collaborating obstetricians. If required, permission for their dissemination was sought from national societies of obstetrics and gynaecologists. The questionnaire was translated by a commercial translation agency, back-translated and then proof-read by the collaborating obstetricians. An international business response service was set up to enable participants to send back their completed questionnaire in a prepaid envelope. Findings from this part of the survey follow a similar pattern of variation across countries as seen in the general population part of the study, with fewer respondents in Southern European and Asian countries believing that prenatal testing should reflect a parental choice. However, across countries obstetricians show much greater support for parental choice than general populations.

Objective 3: The vignette study
A vignette study among health care professionals involved in the delivery of prenatal screening services in the UK was conducted to address objective III. The aim of this study was to ascertain how the introduction of NIPD for Down’s syndrome may impact on the quality and quantity of counselling as an indicator of the likelihood that testing is offered in an environment that facilitates informed choices. Participants were recruited at professional meetings and conferences. Those who agreed to take part were randomly allocated to receive one of three vignettes comprising a scenario in which a 30 year old pregnant woman attends a prenatal screening clinic at a point in time, set in the future, when all pregnant women are routinely offered prenatal screening for Down’s syndrome. Vignettes varied in terms of test type (invasive testing, NIPD, non-invasive screening) and their respective specifications, i.e. the predictive power of the test and the presence or absence of a procedure related risk of miscarriage. Attitudes towards a number of attributes of pre-test counselling that are likely to facilitate informed choice were assessed by means of a questionnaire. These were: the type of information considered important to communicate during counselling, the timing of the test and the perceived need to sign a consent form. Findings suggest that, by removing the procedure related risk, NIPD has the potential to erode informed choice.

Objective 4: Ethical analysis
An ethical analysis is underway to address objective 4. The aim of this work is to offer insight into key questions provoked by the values survey about autonomy in decisions concerning prenatal diagnosis.

Objective 5: Perceptions of test accuracy
A supplementary vignette study is underway to address our fifth and final aim. This study was developed in response to one of the key challenges to the development and introduction of non-invasive prenatal diagnosis (NIPD); achieving acceptable predictive power commensurate to current invasive diagnostic tests. We do not know what service users consider an acceptable level of test accuracy or at what level of accuracy the benefits of removal of the procedure related risk outweigh the ‘risks’ of a reduction in predictive power. Ascertaining this may usefully inform future practice.

Sex selection
NIPD has the potential to be used for fetal sexing. There is good evidence to suggest that a sizeable minority of parents, particularly in countries where women are valued less than men, are interested in using prenatal tests to terminate pregnancies of unwanted sex. This is evident in the unbalanced Sex at Birth ratios in countries like China and India. In order to synthesise expert views on the use of non-invasive procedures for sex selection, WP 7 convened a workshop and edited the special edition of Prenatal Diagnosis. This line of work has led to the conclusion that despite legislation outlawing the procedure, the practice of sex selection for non-medical reason may be inexorable. Given the far reaching social and political consequences of this practice, already apparent in India and China, strategies beyond banning the procedure for non-medical reasons must be considered.

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