March is Trisomy Awareness Month
To help Ffion’s Gift raise awareness, Michael G Ryan Son & Daughters Ltd has allowed us to dress their window in support of our objective. Move over to our gallery to see the window.
NIPT is now available on NHS
As of 30th April 2018 throughout Wales, expectant Mums will be offered screening for not only Downs, but Edwards and Patau syndromes too. For those women that are at a higher chance of having a baby with any of those three conditions will now be offered Non-Invasive Prenatal Testing (NIPT). A simple blood test that is accurate and obviously reduces the risk of miscarriage.
The testing is still only screening. However following a higher chance result a diagnostic test will still need to be done.
This is a huge day for women in Wales. Firstly. As Edwards and Patau syndromes have never been screened for before. Secondly. As Wales are ahead of England in this implementation. And finally. As screening will be offered for twin pregnancies which is also something that’s never been done before.
Edwards Syndrome is now going to be talked about. Women are going to read about it in the new literature they will be given at their booking appointment. It’s truly amazing.
There will still be a need for Ffion’s Gift as we can provide a subsidy for testing from 10 weeks.
Women will also be asked to watch this short film clip. As part of the project board for this implementation, Sarah (Ffion’s mummy) felt that her input was limited as she doesn’t come from a medical background, so offered (as a last resort) to be the pregnant lady in Antenatal Screening Wales film clip.
The clip shows the discussion women can expect with their midwife at their booking appointment (around 8 weeks into pregnancy). The conversation is about what screening is offered to a woman throughout her pregnancy.
Who we are
We are a South Wales based registered charity (Charity Number 1167760), that has been created by Ffion’s Mummy, family and friends, in her memory. Ffion was born in the arms of an angel on 1st April 2015. She had been diagnosed with the rare life-limiting genetic condition, Edward Syndrome (Trisomy 18).
We aim to preserve and protect the health of pregnant women who have previously suffered a loss to Edward Syndrome by:
- Raising public awareness of Edwards Syndrome (Trisomy 18)
- Campaigning for NHS screening for Edward Syndrome
- Raising funds to subsidise £100 towards non-invasive prenatal testing (NIPT) for women who have had a previous baby with Edward Syndrome which can be done privately from 10 weeks and costs around £400.
Edward Syndrome (Trisomy 18) is a serious genetic condition caused by an additional copy of chromosome 18 in some or all of the cells in the body. It is the second most common chromosome disorder after Down Syndrome (Trisomy 21).
Edwards Syndrome affects around one in 3,000 to 6,000 live births. Of those that survive birth, around half will die within two weeks and only one in every five will live three months. Approximately, one in every twelve babies born with Edward’s survives beyond one year, and they will live with severe physical and mental disabilities.
Current NHS Tests
Currently most NHS hospitals offer a scan and blood test (Combined Test) at 11-13 weeks which picks up 85% of babies with Down Syndrome. There is no screening for Edward or Patau Syndrome or for multiple pregnancies. About 1 in 40 women are flagged up as being at increased risk and are then offered aminiocentesis which carries a risk of miscarriage even though most babies will be found to be normal.
The NIPT blood test can be done privately from 10 weeks of pregnancy with a detection rate of 99% or more for conditions such as Down’s Syndrome, Edward’s Syndrome and Patau Syndrome and it works for multiple pregnancies. It tests DNA from the baby present in the mothers blood. It is a simple non-invasive blood test and therefore carries no risk of miscarriage. The test costs around £400 and is available in private health clinics.