Researchers today reveal a new check using a simple blood test to detect Down’s syndrome could lead to improved care of mothers and babies and reduce costs to the NHS.
The approach could significantly reduce the need for potentially-risky invasive tests to diagnose the condition which can lead to miscarriages.
Details of the research will be presented to the UK National Screening Committee later this month which is expected to rule in the autumn on whether and how the use of non-invasive prenatal testing (NIPT) could be adopted by the NHS as early as next year.
Speaking at the annual conference of the European Society of Human Genetics today, Prof Lyn Chitty, of Great Ormond Street Hospital in London, will describe the findings of a study involving 2,500 high and medium-risk women who took the test carried out at a laboratory at the hospital, which is the first NHS facility to providing the testing.
Prof Chitty said it performed well in identifying problems, leading to a reduction in invasive testing which would mean fewer miscarriages and loss of babies.
“There was a very high uptake of testing and we saw invasive test numbers fall sharply,” she said.
“NIPT performed well in identifying problems, and women were very positive about it.
“The cost of providing an NIPT service will depend on the cost of the test itself and how it is implemented.
“There will be significant savings resulting from a decrease in invasive testing whilst increasing the detection of affected babies.”
One woman classified as “high risk” of having a baby with Down’s syndrome, who was involved in the National Institute for Health Research study, said: “You get told one in 30 and although that sounds relatively high...we probably wouldn’t have done invasive testing because there’s a risk of miscarriage.
“It’s enabled us to make an informed choice about what happens for the rest of our lives.”
Another woman said: “I think it’s a real advancement.
“At the moment, if you are put in a high risk category you’re automatically offered the invasive test, whereas this will reduce the amount of invasive tests that need to take place.”
Around 775 babies are born each year in England and Wales with Down’s syndrome but the risk increases with the age of the mother.
A woman who is 20 has a one in 1,500 chance of a baby with the condition, rising to one in 100 for 40-year-old women.
Jane Fisher, director of the charity Antenatal Results and Choices, who sits on the screening committee, said: “We are supportive of it being implemented in a way that works within the NHS because at the moment we are talking to women nationally who are desperate for it to be introduced. It’s that much more accurate than conventional screening.”
In a second study from the same group, experts will also describe the results of harnessing the approach to diagnose the disorder congenital adrenal hyperplasia which can lead to a female foetus developing external genitalia which affects around one in 18,000 live births.
The group is also developing non-invasive tests for other conditions caused by genetic mutations including cystic fibrosis, sickle cell anaemia and beta-thalassaemia.
NIPT is already available from some private sector clinics. It is performed from 10 weeks of pregnancy, with costs ranging from £400-£900.