A safer test for Down’s syndrome that allows pregnant women to be screened without the risk of miscarriage is to be introduced on the NHS.
The non-invasive procedure will be launched in 2018, ministers told the Guardian, and will mean most women at higher risk of a Down’s baby will be able to avoid amniocentesis, which involves removing a tiny amount of fluid from the womb.
But the change has already created controversy, because it is expected to lead to a greater number of terminations as more women agree to be screened.
“We want women to be able to access the safest screening tests available, so based on the clinical evidence, we have approved the use of a new non-invasive prenatal test for Down’s, Edwards’ and Patau’s syndromes,” said the health minister, Philip Dunne.
“By offering non-invasive prenatal testing, fewer pregnant women will go on to be offered diagnostic testing, which carries a risk of miscarriage.”
The new test will be offered to about 10,000 women a year who are considered to have a higher likelihood of giving birth to a baby with Down’s syndrome or two less common genetic conditions, Edwards’ and Patau’s syndromes.
All pregnant women will continue to have preliminary screening at around 12 weeks, which involves an ultrasound and a blood test. But women deemed high risk after the initial screening will be offered the new test.
Women over the age of 38 have a significantly higher chance of having a baby with Down’s syndrome, and their numbers have been steadily rising.
Amniocentesiscarries a small risk of miscarriage and some women choose not to have it for fear of losing their baby. The new non-invasive test carries no miscarriage risk.
Currently about 7,900 women agree to an invasive test and 46 miscarry. More than 2,000 choose not to have the test – either for fear of a miscarriage or because they would want to continue with their pregnancy whether or not the baby had a Down’s diagnosis.
An invasive test, which gives a definitive diagnosis, will still be offered if the non-invasive prenatal test (known as NIPT) is positive, but the Department of Healthcalculates that there will be only 1,400 invasive tests a year and three miscarriages as a result.
Approximately 775 babies are born with Down’s syndrome in England and Wales each year.
The new blood test is being introduced purely on the grounds of safety, but it is expected to increase the number of parents willing to find out whether they are carrying a baby likely to have Down’s syndrome. That could could lead to fewer children with the genetic disorder being born, if more parents choose to have a termination.
Controversy has been building, particularly following a BBC TV documentary this month from actor Sally Phillips, whose son Olly has Down’s syndrome. In the programme, A World Without Down’s Syndrome?, she spoke of the happiness Olly had brought the family, her concerns about the new screening test and her difficulty in understanding why any woman could choose not to give birth to a baby with the condition.
Ministers are at pains to point out, however, that the test will only be offered to the same women currently offered amniocentesis. And it is still a matter of choice whether to have a test or not. In July, the Nuffield Council on Bioethics confirmed there were no new ethical issues raised by NIPT.
The announcement comes 10 months after a positive recommendation from the government’s expert UK national screening committee.
The first tests will not be carried out until 2018, to allow time for staff to be trained. But there is also an awareness that this is sensitive territory and that the NHS needs to move carefully.
“We will closely manage the rollout of non-invasive prenatal testing to give us a better understanding of the impact it has on the decisions women and their partners make following their test results,” said Dr Anne Mackie, director of programmes for the UK National Screening Committee.
“We are developing the full detail of the rollout, including the number of sites involved and the results and information to be collected. Key to ensuring we get this right is the work we are doing with patient groups, scientists and clinicians, to help us develop balanced informative resources for the public and health professionals.”
Prof Lyn Chitty of Great Ormond Street hospital, an expert in clinical genetics, foetal medicine and prenatal diagnosis who worked on the test, said the staged rollout “will be important in allowing us to train all health professionals involved in delivering this new service to ensure parents have as much information as possible upon which to base decisions about their pregnancy, and to support them in those decisions”.
Jane Fisher, director of the parent support organisation Antenatal Results and Choices, said it welcomed the carefully coordinated introduction of the test. “Screening … is optional and, for women who choose to have it, the provision of NIPT will mean fewer will face the difficult prospect of risky invasive testing. The move also goes some way to dealing with the current inequity that most women can only access this more accurate screening method if they have the means to pay for it in the private sector.”