A new test for Down’s syndrome has been recommended for women on the NHS and will reduce the need for tests that carry a miscarriage risk.
The simple blood test is used to detect Down’s syndrome and can also pick up Patau’s and Edwards’ syndromes. For many it can remove the need for invasive amniocentesis tests which carry a 1% chance of miscarriage and around a one in 1,000 risk of serious infection.
Public health minister Jane Ellison is expected to approve the advice in the coming months, with the test then made available to women considered to have a greater chance of having a child with Down’s syndrome. The UK National Screening Committee has recommended that the new test, which is 99% accurate, should be made available in hospitals.
Currently all pregnant women in England are offered a combined blood and ultrasound test when they are 10 to 14 weeks pregnant to check for abnormalities. However, a trial at Great Ormond Street Hospital found that the threat of a miscarriage put women off from taking the amniocentesis test, with only 65% agreeing to take the test.
In new recommendations, Government advisers say women found to have a one in 150 chance or greater of having a baby with Down’s, Patau’s or Edwards’ syndrome in the combined test should then be offered the new test.
The new screening method, non-invasive prenatal testing (NIPT), works on the knowledge that a developing foetus’s DNA circulates in the mother’s blood. This means some aspects of the baby’s genetic profile can be screened directly from the mother’s blood sample. Studies for NIPT have shown it to be 99% accurate in detecting Down’s.
Down’s syndrome is a genetic condition caused by an extra chromosome in the body’s cells, affecting roughly one in every 1,000 babies born in the UK. It causes learning disabilities with an average life expectancy of between 50 and 60.
Professor Lyn Chitty, who led the Great Ormond Street trial, said: “Introducing NIPT into NHS maternity care means that more women can be safely reassured about the health of their baby without having an invasive test which increases the risk of miscarriage.”
To read a blog on the new test, and what it means to people with Down’s syndrome and their families by Hayley Goleniowska, author of the Down’s Side Up blog and mother to Natty, who has Down’s syndrome, click here.
