A safer and more accurate test for Down’s syndrome will be offered to pregnant women in Wales from 2018, following a similar move in England last year.
The new blood test, called non-invasive prenatal testing (NIPT), will be added to the screening pathway to more accurately identify women who are at increased risk of carrying a child with Down’s, Edwards’ or Patau’s syndrome.
Current antenatal screening estimates the risk of a woman having a child with Down’s syndrome. High-risk women are offered follow-up with amniocentesis to confirm a diagnosis, but this is an invasive test that is associated with a small risk of miscarriage.
NIPT provides a more accurate alternative to antenatal screening options, and is expected to prevent one to two miscarriages each year in Wales resulting from further testing.
Rebecca Evans, Minister for Social Service and Public Health, said: ‘NIPT is more accurate than the current primary tests. A negative NIPT result will offer pregnant women the reassurance they need, without the need for a further invasive diagnostic test – reducing the unnecessary harm from miscarriage that can be caused through the use of these tests.’
However, for women who receive a positive result, a firm diagnosis – and any resulting decision to opt for a termination – can only be based on the results of the invasive test.
Julian Hallett, of the Down’s Syndrome Association in Wales, commented that training is essential prior to the introduction of NIPT to enable health professionals to provide balanced information to parents about Down’s syndrome.
He said communication about the condition was often seen as negative, and that health professionals should ‘explain the increased opportunities for children and adults with Down’s syndrome today’.
‘Those women who receive NIPT results will be placed in a position which may lead some to make a decision on whether they continue with their pregnancy,’ he said. ‘It’s a life-changing decision.’