A safer and more accurate test for Down’s syndrome is to be introduced into the antenatal screening programme for expectant mothers in Wales.
Public health minister, Rebecca Evans confirmed that the Welsh Government has accepted the recommendations of the UK National Screening Committee and the Wales Screening Committee to introduce non-invasive prenatal testing (NIPT) as an additional option for women identified as higher chance for having a baby with Down’s syndrome and other genetic disorders.
Screening for Edwards’ and Patau’s syndromes will also be introduced, as well as screening in twin pregnancies as standard.
The laboratory blood test will be offered as an additional option for women who accept current primary screening and are assessed as being at higher chance of Down’s, Edwards’ or Patau’s syndromes.
The new process will be rolled out ‘as soon as practicable’ in 2018.
Current testing
Currently, if a mother tests primarily for Down’s and her risk is equal to or higher than 1 in 150, her only option to confirm the diagnosis is an invasive test, which carries a small risk of miscarriage. It is expected that 1-2 babies per year in Wales will be saved from miscarriage as a result of the introduction of NIPT.
NIPT will be offered as an alternative to these invasive tests and for women who receive a negative result, no further tests will be required.
Public health minister, Ms Evans said: ‘We want to ensure every expectant mother in Wales receives the information, advice and support they need throughout their pregnancy. Our antenatal screening programme plays an important role in this.
‘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.’
A spokesperson for the Welsh Government said: ‘Work is already underway with the other UK nations and charities on the development of health professional training and patient information, designed to ensure women are supported to make a fully informed decision.’
In line with recommendations, the introduction of NIPT will be evaluated over the next three years for its benefits to mothers and babies.
