22nd August 2017

‘Safer’ Down’s syndrome test to be introduced in Wales

A safer and more accurate test for Down’s syndrome is to be introduced for pregnant mothers in Wales, the Welsh Government has announced.

Non-invasive prenatal testing (NIPT) will be offered from 2018.

The decision by the Welsh Government follows moves in England to do the same.

Public Health Minister Rebecca Evans said ministers wanted to ensure every expectant mother in Wales receives the information and support they need.

The new blood test – while not offering a complete diagnosis – aims to better inform women of the risks of having a child with the genetic disorder.

It is more accurate than current antenatal screening, which estimates the chance that pregnant women have of having a baby with Down’s syndrome.

If the risk is deemed high, women are offered an invasive test called amniocentesis – where a needle is used to extract amniotic fluid and which carries a risk of miscarriage.

It is expected one to two babies per year in Wales will be saved from miscarriage as a result of the introduction of NIPT, which will be offered as an additional option for women found to have a higher risk of having a child with Down’s syndrome.

Only the invasive test can give a confirmed diagnosis, however. Women who are given a positive NIPT test would not be able to opt for a termination based on that result alone.

Public Health Minister, Rebecca Evans said a negative NIPT result will offer pregnant women reassurance 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”.

“We want to ensure every expectant mother in Wales receives the information, advice and support they need throughout their pregnancy.” she said.

‘Training needed’

Julian Hallett, of the Down’s Syndrome Association in Wales, said it was essential midwives, screening co-ordinators and other health professionals were 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,” he said.

He said many parents of children with Down’s syndrome reported the information they get from health professionals as “too negative”.

“We want to be able to ensure they balance that by giving positive information about the condition and explain the increased opportunities for children and adults with Down’s syndrome today,” he added.

The roll-out of the test will be evaluated after three years in line with recommendations from the UK and Wales screening committees, Welsh Government said.