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Original poster

Harmony test result - advice please?

19 replies

peggyjean · 09/11/2019 10:53

I hope this post doesn't offend as I know lots of people on here will be grappling with much more difficult results, but I was hoping someone might be able to provide some context/reassurance.

We got our Harmony test results yesterday along with a thorough 12 week scan at the FMC (though found out I am 13 weeks!). The Sonographer told us very confidently that our results were good and nothing to worry about, T21 was 1 in 4750, the other two trisomies a little lower but still in the 1000s. She said it was only as high as it was because of my age (36) but since then all I seem to be reading is women my age and older who have had clear 1 in 10000 results for all 3, and seen a number of people say that this is the base-line what is considered low risk for a harmony.

I know objectively the cut off is 1 in 150 and the maths of it gives us a risk of 0.02 % and compared to lots of people we are very lucky to get such a result and at the end of the day the whole thing is only a probability and not a diagnostic test, but I would love to hear from anyone who has had a similar result - specifically on the Harmony rather than the NHS combined test as I know this result would be considered fantastic on that test, it just seems less than optimum for NIPT.

Thank you so much and apologies again if this seems tin-eared to others with much higher results.

OP posts:
mistermagpie · 09/11/2019 11:53

Hmm, people often do say that your age is a factor in the results, but all my harmony results were 1 in 10000 and my NHS results were low risk (we don't get a score here for that) and I'm 39. So I've never been sure how much the age is a factor.

If I had got your harmony results I would feel the same as you, although objectively your risk is incredibly low as you know. Where I had the harmony they offered a debrief with the consultant about the results, I would be asking for something like that I think, just for peace of mind.

Nanmumandmidwife · 09/11/2019 12:07

I’m guessing that they didn’t get very much fetal DNA in the sample. How many weeks were you when you had the sample taken? Does the report tell you the % of fetal DNA?

Original poster
peggyjean · 09/11/2019 12:19

Thanks so much for your replies, Nan, she specifically told me they'd got a really good sample, which I think is factoring into my concern!

I am in the UK too mister, opted out of NHS 12 week as they were only going to be 1 day apart and was informed by both NHS and FMC that the Harmony is so much more accurate (I had a thorough scan in addition) and ironically given the NHS skews for age it might worry me unnecessarily to get a less positive result there if the Harmony was good! I am going to take your advice and call them now to see if someone will debrief more thoroughly with us. Our sonographer yesterday was very pleasant but less communicative than the lady we had at our 10 week visit.

OP posts:
Original poster
peggyjean · 09/11/2019 12:53

Well, very grateful for your prompt Mister as after a phone call the FMC emailed the results which on paper showed less than 1 in 10,000 for all 3!

Have asked for a doctor to call me as my husband and I both certain she told us figures between 2K and 4K in the room, so not sure what's happened there, but really just incredibly relieved and happy - thank you both for taking the time to reply x

OP posts:
OhDearEthel · 09/11/2019 13:00

The figures in the room are the usual 12 week screening. A combination of the nuchal fold thickness, HCG and PAPPA levels. The harmony is foetal DNA extracted from you and is more accurate.

Kayjay2018 · 09/11/2019 13:08

@peggyjean we got our harmony results at FMC last week. I'm 38 and had phoned and got my harmony results over the phone, 1 in 10000 chance. What I didn't realise was that they also did the full combined screening so I got those figures in the room and they sound like your initial ones, 1 in 4750 for downs and similar for the other 2. They should have given you two pierced of paper, 1 with the harmony results (which show scores and %fetal dna) I think this would show sex if you asked to find out, then a second a 4 sheet which has the scan measurements and screening results (the combined ones). Hope that helps!

Original poster
peggyjean · 09/11/2019 13:44

That's so helpful Ethel and KayJay, thank you, sounds like that's exactly what has happened but to be honest that was not communicated at all - she implied it was the harmony result in the room, said "they got a very good sample for the harmony" and then reeled off those numbers in the next sentence, so to this wally they seemed like the same thing, and she never mentioned 1 in 10K once.

I'm not someone who gets outraged at sonographers so not blaming her, she was lovely, just wish I'd asked more questions in the room, and relieved now I understand it / have the full info now.

thank you so much! xx

OP posts:
tacosplease · 09/11/2019 16:14

I also had a Harmony test at the FMC and received a 1:10,000 result for all three trisomies, but they then adjusted the Down’s trisomy to 1:5,500 due to my age (I’m mid 30s) as if they were looking at risk factor on age alone, it would be 1:250 or something like that.

The FMC said they wouldn’t recommend any further tests (CVS/amnio I presume) with those results.

Did anyone else have a 1:10,000 result for Down’s and then have it subsequently adjusted for age?

mistermagpie · 09/11/2019 22:33

Glad you feel reassured OP!

That's weird about adjusting for age, I'm 39 and mine was 1 in 10,000 for all three, no adjustments done. I figured the 'score' was entirely based on your baby's DNA and therefore your age was irrelevant to the result (unlike with the NHS screwing where it's a combination of factors).

tacosplease · 10/11/2019 05:43

I figured the 'score' was entirely based on your baby's DNA and therefore your age was irrelevant to the result

I thought that too Confused I’m a bit worried now as to why mine was adjusted - but 1:5,500 is still a good result, isn’t it?

tacosplease · 10/11/2019 10:08

I also had a low nuchal measurement (1.3) so that’s a good sign?

Original poster
peggyjean · 10/11/2019 10:57

Hey tacos, it sounds like you have had almost the same experience as me - are you sure your figures weren't a version of what Ethel and Kayjay have suggested, the 1 in 10K ones were the harmony and the 5K one was for the combined screening (in which case it's a great result).

FMC didn't call me back yesterday but when they do I will update in case it helps you too.

OP posts:
tacosplease · 10/11/2019 11:07

I’m not sure Peggy - the FMC showed me 1:10,000 for all three, then showed me the figure if they were basing it solely on age with no other factors considered, and then a third figure that was the average of the two (1:5,500). I didn’t think the Harmony looked at age either, so I’m confused now!

mistermagpie · 10/11/2019 11:12

That is confusing, nobody mentioned my age when I had the harmony at all!

tacosplease · 10/11/2019 11:33

That is confusing, nobody mentioned my age when I had the harmony at all!

Hmm - then why me? Confused I’m really worried now!

tacosplease · 10/11/2019 11:36

What I didn't realise was that they also did the full combined screening so I got those figures in the room and they sound like your initial ones, 1 in 4750 for downs and similar for the other 2.

Ah, I didn’t read Kayjay’s post properly - perhaps this is what happened to me too? So which figure do I go on - the 1:10,000 or the combined 1:1,500?

TiceCream · 10/11/2019 11:58

At age 37 my result was 1/10,000 for all three trisomies. As I understand it, Harmony is a DNA blood test and maternal age is not a factor in the result.

The key point to understand with regard to NIPT is that these conditions are rare and affect less than 1% of babies. Even if they did no test at all and just told everyone their baby was unaffected, they would be correct 99% of the time. When they say the test is 99% accurate, what they mean is that out of that 1% of babies who are affected they will identify 99% of them. The test can also generate false positives - they told me that even if the test said my baby had Downs there was a 20% chance that it was wrong.

I realise it’s worrying to not get a result of the lowest possible risk. But you’re still very low risk. A 1/10,000 risk means your baby is 99.9% certain to be unaffected and a 1/5000 risk means your baby is 99.8% certain to be unaffected, so not a huge difference.

tacosplease · 10/11/2019 12:03

Thanks Tice - that all sounds reassuring!

Kayjay2018 · 10/11/2019 12:03

@tacosplease the so ographer said that with May harmony and combined results the odds of one of those 3 problems was around 1 in a million. I also got 2 sheets of info- one had the harmony results, the second had all the scan measurements plus the combined screening ones too. It's only the combined ones that take account for age as a factor

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