ULTRASOUND scans that can reveal a devastating chromosome condition in unborn babies, are set to be offered at a cheaper rate to some pregnant women through a charity being set up by a Newport woman.
Sarah Davies and partner David Hope endured the heartbreak earlier this year of the loss of daughter Ffion, who was stillborn after being found to have Edwards Syndrome - also known as trisomy 18 - the second most common chromosome disorder after Down's Syndrome.
The couple, who have a three-year-old daughter, had never heard of it however, and were shocked to find that tests in pregnancy for Edwards and another syndrome, Patau, are available, and earlier than the standard 20-week ultrasound scan at which Ffion's disorder was discovered, but not on the NHS.
Ms Davies, aged 27, of Godrich Crescent, Newport, channelled her grief into raising money for the charity Emily's Star, which seeks to raise awareness of Edwards Syndrome and support families.
A fundraising walk up Pen-y-Fan, near Abergavenny, last month, has raised around £1,600 for Emily's Star, more than three times the initial target.
An Argus story about Ms Davies' ordeal also attracted the attention of foetal medicine consultant Dr Bryan Beattie, at Cardiff-based Innermost Healthcare, who backs her calls for wider awareness.
Last night, Ms Davies told an audience of midwives at a symposium - organised by medical education charity Innermost Learning, which is led by Dr Beattie - of her wish for improved awareness of the disorder.
The event also saw the unveiling of a subsidised ultrasound scan initiative, to enable pregnant women deemed at risk of carrying a baby with Edwards Syndrome to be screened at considerably less than the normal cost.
Ms Davies is setting up a charity, called Ffion's Gift after her daughter, which aims to contribute £100 towards early scans for pregnant women who have had a previous episode with Edwards or Patau Syndromes.
And with Innermost Learning set to match-fund, it means that for mums-to-be who meet the above criteria, the normal scan price of £450 would be cut to £250.
Innermost Healthcare is also set to donate £10 to Ffion's Gift for every mum who has a NIFTY test (a screening test for Down's and other syndromes) at their clinic, to kick-start the fundraising campaign.
“Our aim is to raise awareness of Edwards Syndrome and through our partnership with Sarah’s charity, to help couples who have already lost a baby to the condition, by providing affordable ultrasound scans to test for the condition in their next pregnancy," said Dr Beattie.
"It is a serious genetic condition, and sadly most babies do not survive childbirth. Of the few babies born alive, only half survive their first week."
For Ms Davies, the nerve-wracking experience of addressing a roomful of medical trainees and experts was worth it for the opportunity of putting Edwards Syndrome in the spotlight and to start helping others.
"I'd still like to see tests available on the NHS, but this has already come further than I ever thought it would," said Ms Davies.
* Edwards Syndrome is caused by an additional copy of chromosome 18 - hence trisomy 18 - in some or all of the cells in the body. It occurs in around one in every 2,500 pregnancies.
Where it is present in some cells, it is called mosaic trisomy 18, and depending on how many cells are affected, babies can live. But with full trisomy 18, most pregnancies do not go full term.
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