THREE years ago, Sarah Davies was overwhelmed with grief at the mid-pregnancy loss of her baby, and wondering why she and partner David Hope had not been made aware earlier of the disorder that led to their daughter Ffion’s stillbirth.
Now, the mother-of-three can be proud of her role in a project that will, from Monday, ensure pregnant women in Wales have access to safer, more accurate screening tests for Down, Edwards and Patau Syndromes.
In a UK 'first', Wales will introduce Non-invasive Prenatal Testing (NIPT), alongside existing antenatal screening.
It follows work by an antenatal screening project board which Ms Davies, from Goodrich Crescent, Newport, joined in 2016, to provide insight from the point of view of a pregnant woman.
By then, backed by family and friends, she had spoken of Ffion's loss to the Argus and other media, and was raising awareness of Edwards Syndrome, which her then unborn daughter was found to have.
She had also set up the charity Ffion’s Gift - www.ffionsgift.com - to help subsidise for women the cost of a prenatal test - until now unavailable on the NHS in Wales - that can detect Down, Edwards and Patau Syndromes.
“NIPT will be available on the NHS in Wales. There isn’t a word big enough to describe how I feel,” said Ms Davies.
“This is a fantastic legacy for Ffion. I'm pleased that what happened to her and what we’ve been through has not been in vain.”
Despite being the second most common chromosome disorder after Down Syndrome, Ms Davies and Mr Hope had not heard of Edwards Syndrome, and were not told of it until doctors became concerned at her 20-week scan.
Also called trisomy 18, Edwards Syndrome is thought to occur in around one-in-2,500 pregnancies, caused by an extra copy of chromosome 18 in some or all cells.
With full-blown Edwards Syndrome, most pregnancies do not go full term. If babies are born alive, they usually survive just hours or days.
“We felt expectant mums should know about it, and that a test should be available on the NHS,” said Ms Davies, who also appears in a video as a mum-to-be discussing the issue with a midwife.
“It was daunting with the project board, because it included obstetricians, midwives, geneticists, laboratory technicians - I felt way out of my depth.
“But I’m so glad I stuck with it. The last three years have been a rollercoaster of emotions, but the outcome will benefit lots of women and families.”
From Monday, NIPT will be offered to women who have taken up an initial offer of screening and are found to be at a higher chance of Down’s, Edward’s or Patau’s Syndrome.
NIPT is offered as an alternative to an invasive test , the latter having a small risk of miscarriage.
Offering NIPT is expected to reduce this risk, as fewer invasive tests are expected to be undertaken in Wales.
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