Harmony tests - a no risk test for Down's Syndrome (unlike cvs and amnio which carry a small risk)

[LemonPeculiarJones]

Hello,

I just wanted to start a thread here to make it more widely known about these risk-free tests for Down's syndrome and other anomaly markers.

So if you get back worrying odds from your first scan with regards to Down's syndrome you have a choice on the nhs of a cvs test or an amnio, both of which carry a very small risk of miscarriage.

These blood tests, 'Harmony' tests, are another option. They can detect and then analyse foetal DNA within the mother's blood stream, and although they are not diagnostic they are 99% accurate. And because they are a simple blood test they pose no risk to the foetus.

Unfortunately they are private and therefore expensive. The harmony tests cost £400. They also offer a scan for £180 where they look for multiple markers for Down's syndrome (whereas the nhs only look for the nuchal fold measurement). If you are early enough in your pg they can redo your hormone blood test too (included in scan cost).

The Harmony test results take 10 days - 2 weeks to come back. But I had the scan yesterday and that alone was so reassuring, all the stuff they look for as markers for Down's syndrome were completely absent. They redid my bloods and they came back damn near perfect (whereas my nhs results were a bit worrying) and the lovely doctor recalculated my odds - they went from 1:397 to 1:1654. And she said it was only my age (40) preventing the odds from being in the higher thousands.

So hopefully the results from the Harmony tests will confirm that!

We couldn't really afford it and have just whacked the cost on our overdraft...and I know that my original odds weren't terrible....but the odds with our first DC were 1:4000 so hearing 1:397 for this pg was concerning.

Just wanted to put this info out there.

I had the tests done at the Fetal Medical Centre on Harley Street in London. The clinic is headed up by Dr Nicolaides, who is world renowned. I think he was the person who pioneered IVF. He developed the tests and is pushing for the nhs to offer them to everyone. The centre is non-profit, all the money goes back into research.

I don't think their website has info about the harmony tests, but if you call up they can tell you about them and book you in.

You can get the tests done at other places than the FMC too but I don't think they are that widespread yet.

Hope this helps someone out there! I was so grateful to learn that we had this option.

Our quoted miscarriage rate for amino and cvs at a big teaching hospital seemed much higher than widely quoted - indeed on the waiting room wall was an information poster which said on TOP of mc rate for amino was 1% risk of the test having to be repeated ???? This surely doubled the mc risk ?
We were very shocked and put off cvs and amino AFTER our hospital visit

Just wanted to add that I got my results back today and all is well. We feel very lucky

Yes lemon ! I was so delighted as on here only read about clinics in south and cardiff

That's brilliant! Not free though, surely?! That would be amazing!

We paid £500 for bloods ALONE

Ah. So £100 more expensive than the FMC. Ouch. Did you save on train fares though?

Still, it's fantastic that it was available. So important to have this option.

thanks for your answers!

Yes more expensive than FMC but I'm in the north with self employed dp and no help to look after my kids. To me and dp the ease of walking in the doctors five minutes from my house and having them ring me a week later with the results was with much much more than the £100 difference

That's great iclaudius. Hours on the train + costs of travel + childcare issues = nightmare. Brilliant you could avoid that.

It's so positive that it's becoming available to more areas.

Lemon I agree and do think this is absolutely the way forward- we are so lucky !

I did get told the nuchal measurement at the scan (NHS), but it's just a measurement in mm, not a % risk. You only get the risk calculated when they've got the blood results back. If you're having twins I'm sure they could tell you the measurement for each then and there, especially as the nuchal scan is the only measurement that can be done separately for each twin (as the blood results will be averaged).

Buba I don't really know why we got the scan AND the test for that price? Perhaps it's because at that early stage they don't get much demand as it's not post NHS results coming back high risk IYKWIM? We went for it as we wanted reassurance and knew we wouldn't be able to afford it at the higher price...maybe it's handy for them for research reasons?

I'm going for this test at the end of next month. My first baby was found to have DS with an accompanying severe heart defect (common with DS) and we were advised to end the pregnancy so it's really important for me to go for this test.

We're going at 10+3 when it is £180 for the test and the scans together. I assume it is cheaper because they can include your test results in their studies, which I guess will be more useful if they can prove you can also find out earlier than CVS/amnio AND in a non-invasive way. The appointment can't come soon enough for me. Obviously it matters a lot to me that they look at more things than the NHS scan too, particularly the heart.

Apparently it is thought that it'll be available on the NHS by 2017.

You can't have the Harmony test on multiple pregnancies (twins, triplets etc). I guess it is too complex because it involves separating out the blood to determine the parent and the baby's different blood? Something like that anyway.

Also, CVS only has a seemingly higher miscarriage rate than amnio because they can't rule out which miscarriages were natural and which were caused by the CVS. Miscarriages are much less likely at the gestation of an amnio. My consultant has talked to me a lot about this because he advises definitely testing this pregnancy because of my first pregnancy.

My baby had DS and the only marker she had was her heart defect. Other measurements were fine so it's not always true that if the nuchal fold looks fine that your baby is fine. I was also only 23 at the time. Statistically 2/3 of babies are born to younger mothers, though we are often made to believe that being older is what causes DS. Age does play a part but it doesn't always guarantee a healthy baby if you are younger.

it is still not diagnostic though is it? so its not a low risk test for downs syndrome - just a screening test with a lower false positive rate - in that it is more sensitive. You would still need a diagnostic test to confirm a high risk result?

We had the NT and blood testing done privately last week, it was £195 and we were told about a further test which sounds exactly the same as the Harmony test above. It costs £750 though. Our scan looked good, we're just waiting for the blood results and if its high risk we'll look at the further test. I know it's a lot of money but I think it's worth it as there's no risk to the baby whatsoever - just another blood test.

My DP does think it's scandalous that these tests are available only to these who don't mind paying for them and I agree - but I suppose the NHS can only go so far on its limited funds. Don't get me started ... !!

It isn't diagnostic because it can't tell you which chromosomal abnormality it is if it comes back positive. Therefore it doesn't make a diagnosis but it very accurately gives you a definite yes or no. Even amnio/CVS can be wrong. They aren't considered 100% effective.

It's only not available on the NHS yet because the research hasn't been completed fully. Once it has then it'll probably be offered the same way CVS/amnio are offered routinely to high risk people and over 35's I would've thought. It is certainly PLANNED to make it available anyway.

I'm a student and my OH is a newly qualified primary school teacher so money isn't particularly great for us. We're only paying for it because there is no way I can wait so long to find out after my experience of losing my baby. Terminations for medical reasons are absolutely horrendous.