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Original poster

Anyone had the Harmony test? Is it definitely accurate?

42 replies

Worriedthistimearound · 09/10/2013 12:30

Hi, just had a call from the clinic to say my results are 1 in 10000 so a negative result, which I'm obviously thrilled with. She also told me the sex of the baby. She said both the results are 99%+ accurate.

But now I'm off the phone I'm starting to think about it all-probably overthinking.
I had the test at 10+3 so early but not too early. Though because I wasn't yet 11wks I couldn't have a nuchal scan just a dating scan. I'm worried not having an nt scan means something has been missed. I've also read about how there might not be enough Y chromosomes in the maternal blood until 28wks so I'm worried the thrill I'm feeling at carrying a little girl after my boys is misplaced.
DH thinks I'm being ridiculous especially as we paid £750 for this test. He said if there was not enough baby DNA they would have said so and that the Y is a chromosome so if enough to test for trisomy then enough to detect Y. I don't know. I'm worried and wondering if I should hurriedly book an nt scan and also worried I've got my hopes up re the sex.

I'd appreciate hearing from anyone else who has had the harmony test especially if the sex has since been confirmed. Thank

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KittyandTeal · 14/04/2015 19:22

I see.

I know it's awfully stressful and anxious. I don't have any experience of harmony personally but I have done a fair amount of research etc but I'd say that's pretty much a negative screen.

I'd be surprised if the '1' in 1:10000 didn't see soft markers on a later scan tbh. I imagine (although I don't know) that it is virtually unheard of someone getting a low harmony screen, all scans being fine and suddenly giving birth to a baby with a trisomy.

I know there is probably nothing I can say to help your worry but I hope someone else can x

PrintScreen · 14/04/2015 19:44

I had a 1:10 result for Downs from my nt test. We then took the Harmony test and got the 1:100000 result. I was still scared so spoke to Professor Nikolaides who helped develop both tests and bought Harmony to the UK. He said he saw no reason at all to go for an amino as he saw a 1:100000 Harmony as a totally safe negative result. In his mind it was not low risk, it was no risk but could not be marketed as such. I gave birth to a healthy boy 6 months later.

anxiousannie10 · 14/04/2015 20:00

Thank you so much for replies.

AnxiousKeziah · 14/04/2015 20:08

kitty - no you got my numbers right, I got them wrong when typing. And ours was an intermediate result which few get. We had one soft marker at 18 weeks but none visible when Prof Nikolaides scanned at 14 weeks.

Skiptonlass · 14/04/2015 20:09

so sorry to hear that kesia... :(

Annie, your result is low risk :) they can't, by law, say 'negative' because it's not a diagnostic test, only a screening test. But it's as close to an ok as you can get without a diagnostic test.

Due to the way the test works, it's more likely to generate a false positive than a false negative. A false positive could arise because the placenta had some degree of mosaicism, for example, but a false negative would generally arise because there wasn't enough dna in the sample and the mother's dna 'masks' it. That's why they give you a % dna fraction report, and don't report/ call it intermediate if they can't get enough dna.

Harmony is really accurate and specific. It has a detection rate of over 99% and a false positive rate of less than 0.1%. The false negative rate (which is what you're worried about) is trickier to pin down. I've just had a quick scan through the literature and I can't see a number but most of the papers say it's less than the false positive rate.

My honest opinion? If you've had a low risk call on your harmony and similar on your nuchal gold scan test, you're as sure as you can be that your baby is ok.

MissTwister · 14/04/2015 21:33

I think its pretty reliable as the NHS are starting to introduce it!

Bluepetra · 04/05/2015 05:23

Wondering when the NHS might introduce this?
I'm also hoping my Harmony Test was correct. I'd be interested in knowing just how accurate it really is, it's obviously not an old enough test yet.

misssmilla1 · 04/05/2015 14:19

It's a standard test here in the US, and has been approved and in use for about 5 years. I suspect the reason it's not yet covered as part of the NHS tests is the cost and the fact there are only a very small number of labs who process the results. Without insurance the 'list price' for us was $2450. They discount etc and come to an agreement with providers so it comes to about $800 which I think is a similar cost to the UK - think I saw the price range in the UK was GBP 300-500

Bluepetra · 04/05/2015 16:20

Interesting info, thanks missmilla1

Stephyla · 19/08/2015 00:14

Hi I am expecting identical twins in my 13 week scan fluid round the neck was noticed giving risk of twin to twin syndrome or Down's syndrome my 14 week scan the fluid was clear and everything looked normal so it definitely was not twin to twin but I went and paid the money to get the harmony test done anyway just to find out if my boys are going to have downs or not I got the test done last week and will be expecting the results this coming Monday - I'm very nervous regarding the results but whatever the outcome it doesn't make a difference to my decision on having them or not - there still my baby boys and I will still love them the same - such an anxious wait tho xxxx

Jidders · 16/10/2015 07:38

I took the nimble test and result came back boy and after reading this thread I took tell me pink or blue and the result is a girl! I don't know who to believe! And I have wasted so must money and still have no idea!!!!

Jidders · 16/10/2015 07:40

I recently did a nimble gender test and got a boy result. I then heard that they weren't reliable so took a test with IBDNA international and got a girl result! I am totally at odds now and none the wiser after spending a fortune! Both companies are adamant that their result is correct!

snish04 · 24/10/2015 05:01

The harmony test is NOT a diagnostic test, a lot of people seem to think that because it's a genetic test that it's conclusive, it isn't. It can be and has been wrong, deal with it. Even when the tests detect trisomies, it's not conclusive, followup tests are done to make the result conclusive... and in a small amount of cases, even some of the trisomies detected by harmony have been wrong.

We are in the same situation as some here, our harmony test came back as a girl (confirmed twice) and yet our baby has a penis. The medical establishment is trying to make sense of it and throwing possibilities around, like turners syndrome (these babies are girls and there's no record of them developing a penis in the womb, that I have found). These babies tend to be small, our baby is growing as expected, no heart issues either...

We believe that in small instances there is an anomaly in the harmony testing as more contradicting sonograms and births surface on the net. Some one is making a terrible lot of money professing accuracy rates when again... it is not a diagnostic test, it's inconclusive!! These companies need to be regulated cos they are causing a whole lot of unnecessary stress.

At this stage we are going with the sonographers and obs - scientists have also recently discovered that fetal dna can be found and stored in the mothers blood for years... we've had two daughters previously... really there's still much about nature that isn't known. So mums to be, if your results are incongruent to your sonogram and all else is measuring to routine? I recommend not to put your faith in the harmony test.

Will keep you posted with our journey.

cheers to skiptonlass - nicely said

Amritgill123 · 31/10/2016 21:50

Hi, I just got tested positive for harmony trisomy 21 which means my baby has high risk for DS? Wat r the chances it is correct? Pls reply, I m anxious n freaking out. Thx

lcoc2015 · 31/10/2016 22:01

We had a 1 in 3 chance of triple x syndrome picked up by the harmony test and our baby turned out fine. As skiptonlass pointed out the test could be picking up placental cells where the trisomy existed. I know that has happened for positive results on harmony for Edwards syndrome but i think the % error is very tiny. I think the next recommended step would be to have an amniocentesis which is diagnostic rather than screening. Were there any soft markers for DS?

Amritgill123 · 01/11/2016 02:08

My IPS test results were normal. At 20 wk ultrasound it picked a ecognuic focus on baby's abdominal which is considered a soft marker which resulted in harmony testing.

lcoc2015 · 01/11/2016 07:12

Amritgill123 what has your consultant recommended as the next steps? What was your harmony result. Did it give a probability?

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