Wales set to introduce a 'safer' Down's syndrome test for pregnant women

A 'safer' and more accurate test for Down’s syndrome that allows pregnant women to be screened without the risk of miscarriage is to be introduced in Wales next year.

The Welsh Government has agreed to the introduction of Non-Invasive Prenatal Testing (NIPT) within the antenatal screening programme in Wales.

The new test, which involves a blood sample, will be offered to women who accept screening and whose babies are assessed as being at higher risk of Down’s, Edwards’ and Patau’s syndrome.

Public Health Minister, Rebecca 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.

“The Welsh Government has accepted the recommendations made by the UK National Screening Committee and the Wales Screening Committee to introduce Non-Invasive Prenatal Testing as an additional option for women identified as higher chance for Down’s, and to add screening for Edwards’ and Patau’s syndrome and screening in twin pregnancies within the screening pathway in Wales.

“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.”

Two babies per year in Wales could be saved from miscarriage

The current antenatal screening programme offers a number of different primary screening tests to detect some of the conditions that may affect either the woman or their baby.

One of these screening tests shows the chance of having a baby with Down’s syndrome. If this is equal to or higher than 1 in 150, women are considered higher chance but are currently only offered the option of an invasive test to confirm the diagnosis. These invasive diagnostic tests carry a small risk of miscarriage.

NIPT, a blood sample analysed in a laboratory, will be added to the screening pathway as an additional option for women who accept current primary screening and are assessed as being at higher chance of Down’s, Edwards’ and Patau’s syndrome.

It is expected that one to two babies per year in Wales will be saved from miscarriage as a result of the introduction of NIPT.

Work is already underway with 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.

’Life changing decision’

Julian Hallett, services development manager of Down's Syndrome Association in Wales, says it is ‘vital’ that women have rapid access to appropriate counselling so they can make an informed decision which is right for them.

She said: “It is important that NHS staff are ready to support women and explain the new choices for screening. While the NIPT test is more accurate, in order for women to obtain a confirmed pre-natal diagnosis, they will still need to undergo an invasive procedure.

“It is essential that health professionals, such as midwives and screening coordinators, are properly trained about the genetic condition before the new screening is rolled out. 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. It's a life-changing decision.

“We are currently working with families, Public Health England, The Royal College of Obstetricians and Gynaecologists and Down’s Syndrome Scotland to develop training for all those professionals involved in the prenatal screening process and look forward to being involved in this process in Wales as well.”

The introduction of NIPT will be evaluated over the next three years, in line with recommendations made by the UK National Screening Committee and the Wales Screening Committee.