Love Jenuine

We were given the information for The Fetal Medicine Centre in Harley Street. They provide the Harmony Test, a new technology for testing the baby’s DNA through the mothers blood, checking for extra chromosomes, trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) or trisomy 13 (Patau syndrome). We spoke to my mum who works for the NHS with women and children, she discovered this is a patented technology, hence why the NHS don’t provide it yet, but it would be coming soon. She advised a colleague in her work had indicated that the results were 99.9% correct. This test could be done at any point from 11 weeks, so we could have it immediately rather than having to wait another 3/4 weeks for the NHS Amniocentesis test. 

We contacted the clinic the same day and they could see us the following morning. I felt so relieved that we were going to be able to get a definitive result, without putting myself or the baby at risk. 

Typically I spent most of my evening Googling ‘markers’ of Downs syndrome, I couldn’t relax, and wanted to be completely clued up for our trip to the clinic. 

We arrived at the clinic, both anxious as to what we would find out. Before taking my bloods, we had an in-depth scan of the baby. This was the equivalent of our 20 weeks scan with the NHS, only the Fetal Medical Clinic had the technology to get the same results earlier (I was 13+ weeks by this point). The scan checks for additional markers (those I had researched) of Downs syndrome,  such as anomalies to the heart, development of certain bones and fluid pockets in the brain.

The scan took an hour, and it was amazing to watch our baby for that long, move and jump around, but heartbreaking at the same time when we remembered why we were there. The consultant confirmed she was more than happy with our baby’s condition, and couldn’t see any additional markers, and had no concerns about the nuchal translucency. I can’t explain the relief, I wanted to cry and jump for joy. We didn’t want to get too excited, as we still needed to have the results from the blood test. We left the clinic with lots of scan photos of our baby, and the details of the scan, confirming the baby was currently in good health. We came away feeling much more confident, but didn’t want to get our hopes up. 

We were due to go away a week later, and knew we would receive our results, very latest, at the end of our trip. We decided to just carry on as normal, and put it to the back of our minds, but I kept looking at the scan results, and just hoping for good news. 

Three days in to our holiday, and we received the news, our ratio had been revised to 1:10,000, and my blood didn’t show any traces of the trisomy 21. I cried with happiness. It was the best £500 we had ever spent, and we got to relax during the final days of our holiday.

I thought it was important to share our experiences about such a sensitive subject. When I initially found out about The Harmony Test*, it was difficult to find information and experiences about its success and the process. Also this technology isn’t widely publicised, and you certainly aren’t told by the NHS unless you are classed as a ‘high-risk’ pregnancy. Regardless what ratio you are given, even if it is 1:5000 (as someone has to be that one). I would still recommend this as an extra test if you can afford it. Some people may argue, that it should remain unknown, but taking the test doesn’t necessarily imply you are going to terminate the pregnancy. If the results are positive, it can allow you to prepare yourself and others for the extra care your baby will need. 

I am happy to help, talk or answer any questions of anyone who wants to know more or is going through a similar experience. 

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*The Harmony Test is available at other clinics, but the Fetal Medicine Centre was recommended too us, and is part of The Fetal Medicine Foundation who funded the research for this new procedure 

3 responses to “Downs syndrome: The Harmony Test”

  1. Tink Jayne says:

    It’s so emotional to read. Especially as we know little Harry so well now. So good that the test was made available to you and that the news was good. However it does make you think how difficult it must be for the Mums who receive bad news. But I hope all Mums out there receive the help they need, and as you said at least the test will enable them to prepare for the extra care and live the baby will need. X x X

  2. Danielle says:

    Hi Jen

    So sorry to hear you had to go through this. i had the same scare during my pregnancy with Isabelle. I was diagnosed with a 1:35 chance of having a baby with Down’s syndrome , so I totally understand your pain and anxiety!!!
    Due to my extremley high risk I was offered the amniocentesis test the next day. That was a long 24 hr wait!!
    I had not heard about the Harmony Test and the NHS gave me no information on it . The risks of the amniocentesis was explained to me but I felt it was a risk I needed to take. Like you I needed to prepare myself .
    Although I received the results of the procedure in a few days it was the worst few days of my life!!
    The procedure was painful and it would have been nice to know there are other options! As you know the results were negative but I couldnt stop thinking about the parents that receive positive results 🙁

    Thanks for sharing!
    Danielle x

    • Jenny says:

      Hi,

      I guess like me, you weren’t expecting it, and it is such a blow at such a happy time! I imagine that couple of days must of been hell! I cant even think how it must feel to receive positive results, though at least people can prepare themselves, or make decisions that are right for them. It is a shame you weren’t offered the Harmony test, and you’re so brave for going through with the amniocentesis. When the NHS told us about the Harmony Test, they did say it had only recently finished testing in the UK, so I don’t think it was available to the public when you would of been at the right stage with Isabelle. Writing this brought everything back, and made me realise how lucky I am here arrived safely.

      J x x x

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