Would you do the harmony test?

[babyt2020]

Hi all we've had our 20 week scan today, we didn't find out we were expecting until 18 weeks so I've missed the chance to have the nt measurements etc for downs. All looks perfect on the scan but to be doubly sure would you have the harmony test? I don't really know how much they can tell from the 20 week scan with regards to patau etc? Any advice appreciated

[Hadd9]

Hi, they should be able to see any defects in the baby at the 20 weeks scan. If they can’t do the combined screening they state they’ll look for these on the 20 week scan.

However if you do want to be tested I’d recommend looking into a hospital doing the testing. We went to Nottingham Hospital and I’m from Sheffield. It’s nearly half of the price and you get the results back quicker.

Harmony send their bloods off to London for testing, the hospitals test them on site!

Massive congratulations too 💕💕

[hols86]

Highly recommend Harmony test, 99% accurate as they extract dna from your blood that comes from baby, so very accurate for T21, T13, T18 so as close to a yes or no u will get, other than amnio and that's only offered if they spot abnormalities. Hospitals combined tests are far from accurate and give a lot of mums false worry! That's why mums then go on to have Harmony test. Xx

[NoCallerID]

Hi OP,

I second the harmony test.

I've had it done with both pregnancies, one of them ended in a T21 diagnosis, despite not having any markers on the scans. (NT was fine at 12 weeks and the nasal bone was visible). Our boy had physical abnormalities but they could've been isolated and not regarding a chromosomal abnormality.

For a piece of mind, we'd always do the harmony test. (Bear in mind that they are only 99% for T21 and less accurate for T13 and T18 - around 60-70% only, meaning you could get a false positive rather than a false negative...)

[hols86]

Hello noidcaller, did the harmony test pick up your T21 diagnoses? Yes harmony test is very
Reliable, I've actually never heard or read of a false negative only some can get a false positive. They won't give u results unless they get enough fetal dna, in which case they will have to withdraw blood again, in this case. But if u get a result it is very accurate indeed!

[NoCallerID]

@hols86 yes it did. It was also picked up on the NHS combined test due to my hormone levels alone. (I do know people where it wasn't from the combined NHS test and they ended up with a T21 diagnosis after birth...)

But it is possible to get false positives for T13 and T18 with the harmony test which then (also for T21 but I've not heard of false positives for it) need a follow up diagnosis by cvs or amnio.

[Megan2018]

I had it, and would have it again. But I had it early (just after 10 weeks) and would do it early again.
In your position @babyt2020 it depends on whether you’d consider a late termination or not?
I would have an early termination but I’m not sure if I was further along (fully support termination btw, it’s not a judgement just my personal view).

[babyt2020]

Thanks for your replies, I've booked to have the Iona test at st Mary's where I'll have the baby. We would continue if the baby was downs but obviously not if it was edwards or pattau, I'm trying to stay calm and convince myself all will be fine 🤞

[DinoHat]

I did, my midwife suggested it as she thought I might not get my NHS scan on time.

I don’t regret it. I didn’t have any additional screening with my first (I had the scans).

[SarahD19]

I think it is about context. If there were concerns during a pregnancy such as ultrasound markers, then I might consider a Harmony Test to gain more information.

However I wouldn’t personally have a Harmony Test just for the sake of it, particularly as it is only really appropriate for Down’s Syndrome for the most part (around 80% PPV). With Edwards Syndrome for instance, it is only about 37% accurate - and the reliability only get worse from there.

Having had a pregnancy with significant concerns, and having seen NIPT tests misrepresented in terms of statistics so often, I am aware that they can bring a lot of unnecessary distress to people who view them as basically diagnostic.

It is a misrepresentation of statistics which has been flagged multiple times as even practitioners do not recognise the limitations of these tests. If a condition exists in 1:5000 pregnancies for instance, the test could claim everyone has a negative test result, and “be over 99% accurate”. However what a test needs is good PPV (Positive Predictive Value), i. e. Odds that a positive result is genuine and a condition is accurately predicted. Many NIPT tests fall very short in terms of PPV unfortunately.

[babyt2020]

Hi all, thankyou for your replies, we chose to do the Iona test via our hospital st Mary's in Manchester, it was £405. Only had the test Wednesday and got results today! All low risk, less than 1 in 10,000 for all 3 conditions, so so relieved!!

[hols86]

That's amazing! So happy for you. X