A new test that can more accurately diagnose if a foetus has Down’s syndrome will be offered to expectant mothers from 2018, after the government approved its use. But there are concerns that it will lead to more abortions where a foetus is shown to have Down’s syndrome.
The non-invasive prenatal test (NIPT) – which is a simple blood test – will be offered to expectant mothers whose babies are found to have at least a 1 in 150 chance of having Down’s, Edwards’ or Patau’s syndrome following the combined screening test.
Currently, expectant mothers are offered an amniocentesis, where a sample of the amniotic fluid surrounding the foetus is taken for testing. However, the procedure is invasive and carries risk – 1 in every 100 who has the test risks having a miscarriage.
It is estimated that NIPT could reduce the number of amniocentesis’ by 6,000 per year.
Currently, about 750 babies are born with Down’s syndrome in the UK every year. In all, there are thought to be about 40,000 people with Down’s syndrome living in the UK.
Lyn Chitty, professor of genetics and foetal medicine at Great Ormond Street Hospital, has been developing the NIPT, and, following a study, she believes an extra 195 babies with Down’s syndrome could be diagnosed in England and Wales each year, according to a BBC report.
However, about 90% of women in the UK with a positive Down's diagnosis currently have abortions, so there are concerns among some that this will mean that a large number of those extra babies diagnosed will be terminated. Chitty denies this, saying that many mothers will choose to carry on with their pregnancy.
Nevertheless, Hayley Goleniowska, author of the Downs Side Up blog, and mother of Natty, who has Down’s syndrome, has worries about the way the test is to be introduced.
“It is the woman’s choice and they can be screened if they wish to, but often [after taking the test] women are not being given the full picture and are being guided down a route with only one possible outcome. Choice is made up of at least two possibilities: choice [when it comes to Down’s syndrome] doesn’t only mean abortion; it means being allowed to decide between all of the options. Currently many women are being denied the choice to continue a pregnancy.”
She added that midwives too are worried about the test, with some saying they don’t know what the implications are and how to counsel women. They are worried that Down’s syndrome is being clustered together with conditions that may lead to life limiting conditions such as Edward’s and Patau syndrome.
There is also an ingrained culture among some medical professionals that gives a negative view of Down’s syndrome, Goleniowska added. “The culture of ‘we’re really sorry, your baby has a chromosomal abnormality, we can book you in in the morning for a termination’, ‘I wouldn’t have a baby with Down’s syndrome if I were you, they have no quality of life’ all that has got to stop. People need clear, updated information. We need to present the human face of disability as well as simply a list of co-morbidities when we discuss this subject otherwise we stand to lose something very precious from our society.”
In addition, the Nuffield Council on Bioethics currently has a Working Group that is considering the ethical issues that would be raised by introducing NIPT into the NHS prenatal screening programme.
The Working Group, chaired by Tom Shakespeare, Professor of Disability Research at the University of East Anglia, has been consulting a range of people to inform its deliberations since March. An anonymous online survey received more than 700 responses. A series of meetings have been held with people and organisations with an interest in the topic, including healthcare professionals, families of people with genetic conditions, women with a recent experience of NIPT, government and professional bodies, manufacturers of NIPT and scientists. Further consultation activities are planned, and the Group will publish its conclusions in February 2017.
Nuffield Council’s director, Hugh Whittall, said: “It is important that we find a way of offering choice to pregnant women and couples whilst also respecting the equal value of disabled people – this is the challenge for prenatal screening programmes. How NIPT is offered, including the support and information provided to pregnant women and couples is going to require careful consideration, and our report in February will make recommendations to policy makers and relevant health professionals on how this might be done in the most ethical way.”