Currently, at around 12 weeks, all pregnant women are offered routine Down syndrome screening which estimates the risk of the baby being born with the condition. Women at high risk are offered invasive testing, where a needle is inserted into the abdomen, but this procedure carries a small risk of miscarriage. A new non-invasive maternal blood test is being trialled in the UK for medium- and high-risk women, which is safer and has detection rates of around 99%.

‘The test allows women to have that extra reassurance in pregnancy if their results are negative. If the test is positive, it means they can make an informed choice about what to do next; further testing is required to verify the results, and the information may be valuable as it enables them to choose to either prepare for the birth of an affected child or terminate the pregnancy’ said Dr Celine Lewis from University College London’s Institute of Child Health, who led the study looking at women’s views and experiences of this test and will be presenting the research at the annual conference of the British Society for Genetic Medicine.

The team has so far surveyed more than 400 women and interviewed 70. The vast majority have been overwhelmingly positive about a new test that is safe, highly accurate and can be conducted early in pregnancy.

The research found that while most women found to be high risk following Down syndrome screening opted for non-invasive prenatal testing, around 10% opted for invasive testing. The research suggests one of the main reasons for this is because the results currently take 7-10 working days. Most invasive test results can be turned around in 3 working days.

‘For some people, the most important thing is getting the results quickly, but for others it’s more important not to put the pregnancy at risk, so they are willing to wait longer for a result from a safer test’, said Dr Lewis.

Generally, women were pleased to have been offered the opportunity to have the non-invasive test, the researchers reported. ‘People who’d had previous pregnancies said they felt a lot more reassured this time around because of the blood test result’, said Dr Lewis.

The test is being trialled at 8 antenatal clinics in the UK. The study is still ongoing, and the research will be completed by mid-2015.

Dr Celine Lewis will be talking about her work at 2.15pm on Monday 22 September 2014 at the British Society for Genetic Medicine’s annual conference, which is being held at the Liverpool Arena and Convention Centre.