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- Supporting Information
In many developed countries, pregnant women are offered screened to provide an estimate of the risk that an individual pregnancy will be affected by Down's syndrome (DS). Women identified as ‘high risk’ are then offered definitive diagnosis through invasive diagnostic testing (IDT) such as amniocentesis or chorionic villus sampling (CVS), both of which require the insertion of a needle into the womb and thus carry a small but significant miscarriage risk of around 1%. Guidelines produced by the UK National Screening Committee and the Royal College of Obstetricians and Gynaecologists[3, 4] state clearly that informed consent must be sought and documented for all pre-natal screening and testing procedures. Additionally, women should not feel pressurised to accept testing but feel free to choose and be given time to discuss their options, ideally having had information about DS and the screening tests at least 24 h before being asked to make decisions to facilitate informed choice.
Will the ethical principles that underpin these processes shift with the introduction of non-invasive pre-natal testing (NIPT) based on analysis of cell-free foetal DNA (cffDNA) in maternal blood? Rapid advancements in the development and potential clinical application of NIPT since the discovery of cffDNA in the late 1990's have permitted pre-natal diagnosis of selected genetic conditions without the risk of miscarriage by analysis of a maternal blood sample. Currently in the UK, NIPT is available for foetal sex determination in women at high risk of sex-linked disorders, foetal rhesus D typing in Rhesus negative mothers at high risk of haemolytic disease of the newborn and the diagnosis of some monogenic disorders including Achondroplasia and Thanatophoric dysplasia. In some parts of Europe, foetal Rhesus D typing is routinely offered to Rhesus D-negative mothers to direct antenatal immunoprophylaxis with anti-D immunoglobulin. Following the publication of several large scale demonstration projects, NIPT for DS is now available through the private sector in the USA, China and Europe, increasing the pressure for rapid implementation into routine clinical practice in the public sector. Within the UK, NIPT for DS is available in the private sector, with samples sent to the USA for analysis. However, implementation into the National Health Service (NHS) will require further evaluation in low risk populations. Furthermore, ethical integrity in implementation at a population level would mean taking into account the views and needs of service users and providers. Quality education for health professionals should also be based on thorough evidencing of these viewpoints.
The potential for routine implementation of this technology has raised ethical concerns.[14, 15] IDT carries procedural risks and requires more specialised skills, and therefore tends to take place in specialist units. In the current UK NHS care pathway, referral for IDT usually follows a two-staged process: screening followed by a ‘high risk’ result, which is accompanied by discussion and decision making before a referral is made. As and when NIPT is introduced, it is unclear whether it will be offered routinely to all women (replacing current screening) or as a replacement to IDT (to those identified as ‘high risk’) in the same two-staged process. In the longer term, given the continued occurrence of false positives, invasive tests will still be necessary to confirm positive results.[17, 18] Nevertheless, its simplicity may quickly see it established as a routine aspect of standard pre-natal care.[19, 20] There is recognition that this could undermine informed choice: a fundamental part of ethical clinical practice defined as autonomous decision making based on an individual's knowledge and personal values.
Research shows that people are more likely to make informed decisions when pre-natal tests are seen as optional rather than routine.[23, 24] When offered as part of routine pre-natal care, tests are often viewed as a recommendation and are therefore more difficult for mothers (wishing to be seen as responsible) to reject. Through the provision of adequate pre-test counselling and informed consent procedures, health-care services help to ensure that women fully understand the procedure and its implications, and are aware of their right to decline: only through the provision of choice can parents ‘take responsibility for their own reproductive decisions’(p32). As argued by de Jong and colleagues, facilitating meaningful reproductive choices should be the very purpose of making such tests available.
Previous research has highlighted the potential for NIPT for DS to be viewed differently from invasive procedures and as more similar to screening (DSS), with subsequently less emphasis placed on the informed consent process. However, the study was based on a small sample of health professionals, mostly obstetricians. In order to understand how the introduction of NIPT may impact on professional practice, the views of a larger number of clinicians with the role of providing pre-test counselling and support drawn from all relevant disciplines is required. Understanding the attitudes of a wider range of health professionals towards the delivery of pre-natal tests is important when we consider that these attitudes have the potential to affect their professional practice. Greater numbers were also considered vital to be able to generalise findings within the UK. Thus far, there have been only a relatively small number of studies exploring the views of service users towards NIPT: these mainly relate to the use of NIPT for foetal sex determination or the diagnosis of monogenetic disorders in women at high risk of genetic conditions[28, 29] or attitudes towards NIPT for DS in women in the US. As such, the inclusion of pregnant women was considered an important addition to this study.
The aim of the current study was to estimate the potential for informed choice within pre-natal testing to be undermined by the introduction of NIPT for DS, to inform educational and training standards. Viewpoints about pre-test counselling requirements for NIPT, IDT and DSS formed the focus of the survey. The views of a variety of health professionals and pregnant women were collected and compared.