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.
*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
As mentioned in my previous post ‘Part 2: when it all became real’ at our 12 week scan we were told the fluid at the back of our baby’s neck (Nuchal translucency), was slightly larger than it should be, and that this was a key indicator for Downs syndrome. Going in to the scan, I was just so excited to see the baby, and of course I wanted to know it was healthy, but being in my twenties, I naively presumed everything would be okay. So I really wasn’t expecting to hear any differently.
The nurse at the scan told us not to be concerned, but advised us get the blood test for Downs syndrome. As far as I understand this blood test checks the hormones that your placenta is producing are at the correct levels. The output of combining the scan and blood results gives you a ratio that your baby will be affected by Downs syndrome. If your ratio is less than 1:150 you are classed as a ‘high-risk’ pregnancy and the NHS provide extra services and options for your pregnancy.
I received a call from the hospital a week after our tests, as soon as the midwife introduced herself, I knew something was up. When she told me the news, I couldn’t hide how upset I was, I was devastated. She explained my tests had resulted in a 1:60 chance of our baby developing Downs syndrome. She explained my hormone levels had been unbalanced, combined with the nuchal translucency being slightly larger than normal, had given us a ‘high-risk’ ratio.
The midwife was extremely helpful and once I got off the phone, I spoke to Rich. I called him and explained exactly what the midwife had said (best I could, as I was still a blubbering mess), I then did the same to my mum.
Once Rich got home, we sat down and went over everything the midwife had told me. I was just so upset, and just kept going over things in my head, questioning ‘why us?’, especially after having a miscarriage, I kept thinking ‘this isn’t meant to be’, ‘I am never going to be able to have a baby’. Rich and I raised the questions of ‘would we keep the baby?’ we had completely different responses, but both with very good reasons, and agreed that there was no point in discussing this unless we really had too. We needed to stay strong for each other.
At this point we decided to keep the news to just our parents. I felt like talking about it, was making it more and more real, and i just wanted to make it go away.
The next day, we spoke to the specialist midwife, she explained the options provided by the NHS;
1. Continue with the pregnancy, and await the arrival of the baby, though the 20 weeks scan may show more markers, but by that point it would be more difficult to terminate the pregnancy. Plus emotionally you are half way through your pregnancy, and I imagined feeling very attached to the baby.
2. Continue with the pregnancy, and at 33 weeks a test could be carried out to check for downs-syndrome, and if the baby becomes distressed, they can deliver, and there is much less risk to the baby and mother – however if you reach this point, you might as well just continue to 40 weeks, and put neither the mother or baby at risk.
3. An Amniocentesis test. This is the only test offered by the NHS. It involves injecting the placenta at 17/18 weeks and taking a sample of the amniotic fluid, which is then tested for a number of conditions, including Downs syndrome. This test has a 1 in 100 risk of miscarriage, but you get your results in 3 days. We were informed if you did miscarry you wouldn’t know until up to 14 days after the test, and you still have to the deliver the baby. The results of this test gave you a definitive yes / no to whether the baby would be affected.
At this point, I couldn’t bear the idea of putting the baby at risk, I felt like I was living a nightmare, and we were would be forced to go with option 3 as there wasn’t any alternatives. After giving us some time alone to discuss, the midwife returned and told us about a fourth option. She mentioned the word ‘private’, followed by ‘very expensive’. I didn’t care about cost, if there was a better option I wanted to know. She explained the NHS dont normally refer to private clinics, but this new technology meant a non-invasive procedure, 99.9% accurate, but with a longer lead time for your results, and at the cost of £500. We both immediately said yes without discussing it. I was a little annoyed she never mentioned this sooner, but I was just grateful we had a glimmer of hope…The Harmony Test.
After our 12 week scan, we had a blood test to check for Downs syndrome, this is an optional test which most expecting parents have, we were advised to have this, as the nurse doing our scan had spotted a little too much fluid (Nuchal translucency) at the back of our baby’s neck, which can be a strong sign of Downs syndrome. This worried us, but we tried to keep each other calm, there was nothing we could do about it till after the blood results.
Our blood results showed we had a 1:60 ratio of having a baby effected by Downs syndrome, we were now classed as a high-risk pregnancy (this ratio is calculated by measuring the fluid at the top of the neck, and looking at the hormone levels your placenta is producing). It never crossed my mind we would be at risk of Downs syndrome. We weren’t expecting this at all. I actually received the news whilst stuck in gridlock traffic on the M25, and was bawling my eyes out. We were devastated, the usual thoughts ran through our heads ‘why us?’, ‘what will we do?’, we had very different opinions so decided not to discuss it until we had more information. We ended up going to Harley Street for more tests at a private clinic. I’ll be writing a new post soon about our scare with Downs syndrome, how we coped and our glimmer of hope ‘The Harmony Test’
At 16 weeks, and after additional tests, we were given a new ratio of 1:10,000 this was the best you could get. We were on holiday when we got the results, luckily at the start, so we could really enjoy our last break as a couple! I don’t think i had ever felt so relieved in my life. I celebrated with a glass of wine.
Once we had the 20 weeks scan, it dawned on me that I wouldn’t see our baby until he/she was born (unless we wanted to pay for an extra scan). This worried me a little, and so I looked online to see if I could buy a heart monitor, similar to those your midwife uses at your antenatal appointments. I think Rich thought I was crazy, but after all the anxiety we had after our 12 week scan, I couldnt wait till my due date to know he/she was okay. I bought the Angel Heart Monitor Now I could check the baby’s heartbeat and movement whenever I wanted at home. This was great, not expensive, and gave me a little reassurance each week. Once we passed around the 28/30 week point, and I was feeling the baby move around daily, I stopped using this, as the movement was reassurance enough.
Most people opt for the extra scans and get 4D scans done, but these are quite expensive and you always find out the sex. We really wanted the sex to be a surprise, so stuck to our heart monitor. However if you did want to get these done, they are on Groupon most weeks.
Now we were in to summer my bump was rapidly growing, and this wasn’t the only part of my appearance that was changing…