Postby Mills1234 » Thu Feb 26, 2015 6:26 pm
I had the harmony test done at around 30 weeks, as it had only just become available then. We were proceeding with a pregnancy that we had been told was virtually certainly Down's due to hypoplastic nasal bone and low pap-a. I had refused invasive testing to confirm as we weren't going to terminate either way, so it wasn't worth the risk for me. However, so many friends/family kept saying oh you never know, it was driving me a bit bonkers, so when we heard about this we had it done basically to shut everyone up as we were being told by St Thomas' we had a Down's baby. It takes about 10 days if I remember rightly for results. My understanding was that it can have a false positive 2 in 1000, so 2 in 1000 people will be told they have a Down's baby when they don't, and if they wanted to terminate in the event the baby had Down's could then have a CVS or amnio. But it had not shown false negatives, i.e. if it says you don't have Down's you can be pretty certain you don't.
It said we had a less than 10,000 chance of Down's and we have had a little girl that does not have Down's. As the previous poster said if you go to the Fetal Medicine Centre they actually did the European/UK approval studies. They insist on them doing a scan along side it. Our NHS scan did not include factors they considered at 12 weeks, when we went for a second opinion from Prof. Nicolaides before even knowing about the Harmony test. NHS was 1 in 49, FMC was 1 in 4 from scans at 12 weeks. Baby ultimately did not have Down's, and that was only confirmed by Harmony Test much later.
If you choose to see Nicolaides I warn you he has the most appalling bedside manner if you disagree with him, i.e. I did not want him to do a CVS, so he ranted about was that because I would rather have a disabled baby than no baby and after a bit of debate on that situation, he said we should have an amnio done at 32 weeks as even if it caused early labour it wouldn't be detrimental and we would still have the option to "see sense" and request an abortion at that stage if the results confirmed Down's. He is obviously an amazing man, but I wish I had been forewarned on his manner, which I have since heard is a common issue. There is no need to see him if you are having the Harmony test, but he is extraordinarily skilled at CVS and my understanding was the miscarriage risk was affected by the skill/experience of the person carrying it out. So if you choose to go down that route, it could be worth paying him, rather than getting a junior NHS trainee (as my sister in law did!).
Sorry for the essay, my heart goes out to you. It is not an easy time no matter what your thoughts are on the consequences of a Down's diagnosis and I wish you all the best. x
