Mumsnet Talk

Writing this on 5th December 2012.

I just wanted to share my recent experience and tell you about a new test that might help you if you’re worrying about an elevated risk for Down’s Syndrome or the other Trisomies, following screening.

I was initially given a 1:46 risk of my baby having Down’s Syndrome. This was based mainly on my age (39) and hormones (PAPP-A was low at 0.42 MoM and HCG was high at 1.67 MoM). Everything looked fine on a detailed ultrasound scan, including all the potential markers at 12/13 weeks - a present nasal bone, normal tricuspid flow (heart) and Ductus Venosus (a-wave) positive (liver).

With an elevated risk, I was offered CVS, but have had miscarriages before and really didn’t want to take the chance of losing the baby.

After half a day on Google, I discovered that a new, non-invasive test has very recently (October 2012) become available in London - in a private clinic - that can give a more definite answer, without the risk of miscarriage. It is called the Harmony Test and is used in the USA all the time. It involves just a simple blood sample, which is analysed in the lab to look at the cell-free fetal DNA (cfDNA) in the maternal blood and analyses the relative proportion of chromosomes. The consultant told me that it is 99.9% accurate and the false positive rate is less than 0.1%. They do not claim that it is ‘diagnostic’ in the same way that CVS or Amnio are said to be 100% conclusive, so it is still called a screening test, but the level of accuracy (proven in the States) and the fact that it actually directly analyses the baby’s DNA have given us the confidence that we will trust the results entirely.

It takes two weeks to get the results (a very long, worrying two weeks!) but we received our amazing news yesterday that the test has come back negative for Trisomy 21 (Down’s), Trisomy 18 and Trisomy 13. Our risk, which was originally 1 in 46, is now estimated at less than 1 in 10,000! We are feeling so relieved and so lucky, that’s why I felt I just had to tell people that this option is out there.

The test isn’t cheap unfortunately, so sadly it isn’t going to be a possibility for everyone. We paid £180 for a repeat of the standard combined test with a more detailed scan (blood and combined results were back immediately following the scan, no waiting) and then on top of that it was £400 for the Harmony test (results for that took two weeks). It is a lot of money. We are so fortunate that we can afford it, but I can safely say it was the best £400 I have ever, ever spent. I’m aware that the test is in research for the NHS but don’t know how soon they will be able to offer it. The test also goes by another name in the States too: MaterniT21.

It is so new to the UK that it doesn’t even get a mention on the clinic’s own web site yet, but this is where to go: The Fetal Medicine Centre, 137 Harley Street, London, W1G 6BG; www.fetalmedicine.com/; +44 (0)20 7486 0476. It is run by Professor Kypros Nicolaides, who as far as I can tell is THE authority on fetal medicine and screening.

Here’s the press release that I discovered, which led me to call them: www.prnewswire.co.uk/news-releases/the-fetal-medicine-centre-and-ariosa-diagnostics-partner-to-bring-the-harmony-prenatal-test-to-the-united-kingdom-174715781.html

Good luck and thinking of you if you’re in that horrible place having just received an elevated risk from screening. It is so scary, upsetting, confusing and exhausting. Wishing you all the best.

Michelle xx

PS I know the details are really important when you're reading and absorbing these threads: I didn't mention, nuchal fold was normal at 1.9mm.

Thanks for posting that. I had the test at the Fetal Medicine Centre (who are excellent) and was so impressed with it. I was considering CVS on account of my age (38) which I would have gone private for (to be able to choose the doctor - Professor Nicolaides) and that would have been £400 anyway so the Harmony test would have been the same in any case.

I'd urge anyone to take the test if they are worried in any way and can afford it. The Professor is trying to get the NHS to replace the nuchal fold test with the Harmony test in due course.

Harmony and MaterniT21 are both non invasive maternal blood tests for Down Syndrome, Edward Syndrome and Patau Syndrome. Detection rate is 99pc for Down Syndrome. Now available in the UK in centres in London and Cardiff and soon lots more. Costs vary so check if the fee includes an early viability scan and any confirmatory CVS or Amnio if results are positive. Currently samples are sent to USA for analysis.

chelle i am 10 days waiting for harmony results i have similar readings to u. perfect.scans.
1:34 risk. im nearly 39.
hcg 3
pappa .44
nt 1.9
i.am.an ivf.pregnancy so hoping its thrown bloods.the wait is killing me!!!