The Nuffield Council on Bioethics' Catherine Joynson sets out what NHS leaders need to know about a new prenatal screening test launching in 2018.
A new prenatal screening test for Down’s, Edwards’ and Patau’s syndromes – non-invasive prenatal testing or NIPT – will soon be available to pregnant women and couples as part of the NHS fetal anomaly screening programme.
The test is more accurate than current screening tests for these conditions and because it involves taking a blood sample from the woman, it doesn’t carry a risk of miscarriage as do some diagnostic tests (although a diagnostic test is still required to get a definite diagnosis).
But the proposal to offer it on the NHS has been controversial. There are concerns that women might feel expected to have the test, and that it might affect their ability to make genuine choices about screening and termination.
In addition, there are concerns that NIPT could change the way we view disability and that people with Down’s syndrome could be ‘screened out’ altogether. A documentary
about the new test presented by the actress Sally Phillips aired on the BBC last year, generating significant media attention. There have also been demonstrations
outside Parliament about the possible implications of the new test.
The Nuffield Council on Bioethics – an independent body with 25 years’ experience of advising policymakers – has just published a report
on NIPT following a one-year inquiry where we explored these difficult issues.
The process involved wide consultation. Over 700 people responded to our survey, and many others attended meetings and took part in one-to-one interviews, including women who had a personal experience of screening, and people with Down’s syndrome and other genetic conditions.
Current NHS policy is to offer all women a prenatal screening test (the ‘combined’ blood and ultrasound test) for Down’s, Edwards’ and Patau’s syndromes at ten to14 weeks of pregnancy. Diagnostic testing using chorionic villus sampling (CVS) or amniocentesis – which both carry a small risk of miscarriage – is then offered to women who are found to have at least a one in 150 chance (a high chance) of having a fetus with one of these conditions.
This will change in 2018, when pregnant women found to have a high chance of having a fetus with one of these conditions will first be offered NIPT. NIPT has a low false positive rate – around nine in ten women who receive a ‘positive’ NIPT result will have a fetus with Down’s syndrome.
Offering NIPT as a second stage test is likely to increase prenatal diagnoses, giving more women the opportunity to prepare for a disabled child or have a termination. Studies suggest that this might also lower the number of invasive diagnostic tests being carried out, so reducing the number of miscarriages.
Before NIPT is offered to women, we believe the NHS should be equipped to respond to any changes in demand for related services, such as genetic counselling, invasive diagnostic testing, termination and laboratory services. This is one of the conclusions in the report that we are calling on NHS leaders to support.
In addition, we heard about the poor quality information and support that is sometimes provided to women and couples undergoing prenatal screening, and that the introduction of NIPT could make this even worse.
We heard that some healthcare professionals, when giving information about Down’s syndrome, tend to focus on medical problems – such as heart problems and learning disabilities – without describing more fully what it is like to have a child with Down’s syndrome. This may influence the decisions women and couples make, potentially guiding them down a specific route.
We want women and couples to be provided with accurate, balanced and non-directive information about the test and the conditions being tested for that equally supports all choices.
All too often we heard that the word ‘sorry’ is used when a diagnosis of Down’s syndrome is given. This is one of the reasons why we conclude that high-quality education and training should be compulsory for all NHS healthcare professionals involved in the delivery of NIPT. The training would be enhanced by the involvement of people with different personal experiences of prenatal screening and the conditions being screened for.
Researchers suggest the introduction of NIPT will lead to around 200 more fetuses being diagnosed with Down’s syndrome each year. There are positive things about this – such as more women being able to make choices in pregnancy that are right for them – as long as the information and support they receive is of high quality. For those that continue their pregnancies, there is time to prepare for the birth of a baby with disabilities.
However, there are concerns about the adverse impact that a possible increase in terminations might have on people with the conditions being screened for. In addition, the existence of NHS prenatal screening programmes could be perceived to send the message that people with these conditions are not valued by society.
In order to offset the potential harms posed by the introduction of NIPT, the government and those subject to the Public Sector Equality Duty have a duty to provide people with a disability with high-quality specialist health and social care, and to tackle discrimination, exclusion and negative societal attitudes experienced by disabled people. We firmly believe that this duty also applies to NHS leaders and all staff involved in genetic testing and screening.
For more information on our report, visit www.nuffieldbioethics.org/NIPT
Catherine Joynson is assistant director at Nuffield Council on Bioethics. Follow the organisation on Twitter @Nuffbioethics
Please note that all views expressed are those of the individual author, not of the NHS Confederation.