Charlie O'Brien's Down’s Syndrome screening: Harmony Test at the Fetal Medicine Research Institute
When I went to book in my 12 week pregnancy scan a few weeks ago – I was given the option of a routine scan at my local hospital, or an 'enhanced scan' along with a Harmony Test at the Fetal Medicine Research Institute in London.
The Harmony test usually costs around £400 but is currently being offered free on the NHS in my area, with results given within the hour (it usually takes two weeks) – so I jumped at the chance.
Back in October before I was pregnant, I watched the amazing documentary A World Without Down’s on BBC2. It was hosted by actress Sally Phillips who has a son with Down’s Syndrome.
What is the Harmony Test? The Harmony Test analyses cell free DNA in maternal blood and gives a strong indication of whether the fetus is at high or low risk of having trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) or trisomy 13 (Patau syndrome). The test identifies 99%, but not all, of the fetuses with trisomy 21, 97% of fetuses with trisomy 18 and 92% of fetuses with trisomy 13.
Source http://www.fetalmedicine.com
The documentary explored the developing science Down’s Syndrome screening in pregnancy and the ethics involved.
Watching it I felt very strongly that I would never terminate a pregnancy if I discovered the baby I was carrying had Down’s.
I would love the child just as I love my son, Noah. I also sympathised with Sally’s concerns that such screening is leading to a desire for 'perfection' in the human race and that more needs to be done to educate medical professionals not to treat the news as a tragedy when informing parents of a diagnosis.
A lot of campaigners therefore disagree with screening programmes as they already have, and inevitably will continue to lead to a rise in terminations.
In Iceland – not a single baby has been born with Down’s Syndrome since 2008 due to their screening programme and subsequent terminations.
So if I am so sure that I would keep a baby with Down’s – why did I want the test? A few people have asked me this, and it’s a very fair question.
The answer – because I would quite simply want to be prepared.
I am one of those people who needs to know. If I am ill – I want to know what it is. I like to research EVERYTHING extensively. My husband calls me The Queen of Google. It’s probably the journalist in me.
I knew that should I be carrying a beautiful baby with Down’s then I’d want to research what support was available to me, what additional needs my child would have, and what I could do to make sure they would have the most amazing life possible.
Nothing more than that, nothing less.
My desire to know though, doesn’t even begin to touch on the ethics involved in this complex subject – of this I am well aware.
Are national screening programmes a desire to 'wipe out' disabilities that don’t fit with our ideals? Is it a way to save national health services money? Can our developed world really not tolerate difference away from an idea of ‘perfection’?
I am not saying a national Down’s Syndrome screening programme is right. I am completely conflicted.
But I had the test on this occasion and I am pleased that I did.
My results came back showing I was low risk
Before the test, my background risk of Trisomy 21 (Down’s Syndrome) based on my age was 1:261. After the combined results of my scan and bloods my adjusted risk was 1:5219
Before the test, my background risk of Trisomy 13 (Patau’s Syndrome) and Trisomy 18 (Edward’s Syndrome) was 1:502. After the combined results of my scan and bloods my adjusted risk was 1:2956
Further reading and support
Follow Charlie’s pregnancy journey here
