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Harmony tests - invalid result


Yasmine

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Hi,


I'm 40 years old and pregnant with our third baby. I am almost twelve weeks pregnant. We did the harmony test about two weeks ago and got a call from the lab yesterday informing me that my results were invalid due to "not enough of the baby's DNA" in my blood. They will have to take a new sample to be tested.

I've been really upset and worried. I've been counting the days for the results to come out and now I can't believe that I have to do the test again and wait for another 14 days. Additionally, I did some research yesterday and apparently this happens in cases where the mother is overweight, used IVF, carrying twins or the baby has a chromosomal disorder. Since, the first three don't apply to me, now I'm freaked out that the baby has a chromosomal disorder. It's not shocking given my age, but still very sad.

This pregnancy is a big deal for me and I really really want this baby. I called the lab and they told me that invalid results are not common but do happen from time to time and don't necessarily mean there is a problem. If the results come back invalid the second time around or show high risk, I will have to do an amnio. The amnio is really risky for most women, but particularly for me because my pregnancies are high risk and I had PROM at 24 weeks in my first. I definitely don't want a needle piercing my amniotic sac if I can help it. I've been a mess since I got the call yesterday.

Did anyone experience this with their Harmoy test and did everything turn out ok?

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Congratulations on your pregnancy!


This has just happened to a friend of mine. Unfortunately the second set of results were also invalid. Very stressful. But the third time was a charm and showed everything is fine. I don’t think it’s that uncommon. It’s super stressful, but don’t assume the worst just yet.


Take care

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Chillipeppers

I may be wrong but can’t you just do the old school check of an ultrasound? Harmony tests weren’t around when I had a baby so not sure what the protocol is now but can you ask for an alternative method?

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This happened to a friend of mine recently too and the second test showed that everything was fine.


I know how stressed you must be (my third baby arrived shortly before my 40th birthday) but I think this is more common that you realise and doesn't on its own mean anything is wrong.


I hope the next 14 days go quickly for you.

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Are you on reddit, or could you get on it? I recently had a drama with my harmony (very rare trisomy - amnio came back clear though) and there is a reddit thread that has some INVALUABLE information and great advice. Let me know if you want the details?

Amnio isn’t really risky for most women, it’s actually very safe these days - but obviously your history will need to be taken into account.

Sorry you’re going though this, it’s absolutely awful.

If you’re not on reddit or can’t get on, I could post a thread for you and put the reply back here?

Hoping it’s just a bad draw and a second one has good results.

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I’ve had two friends get invalid results, so it can’t be that uncommon. One was likely taken a few days early, no explanation for the other but they repeated the test and all was well. It also didn’t take the full time the second go around- they rushed the results for both of them. Percept usually only takes 7 days if you wanted to do a different one (my OB likes that one because the people who run it are a bunch of geeks apparently, and very thorough).

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I may be wrong but can’t you just do the old school check of an ultrasound? Harmony tests weren’t around when I had a baby so not sure what the protocol is now but can you ask for an alternative method?

 

We didn't do the test in my first pregnancy because it wasn't available where we lived. It was available when I got pregnant for the second time and we did it with no problems.

After I was told about the invalid results, I called my doctor and asked him if I can just skip it and rely on the 12 week plus the 20 week scan. However, he said that given my age, the more tests the better. I see his point, but it's very stressful.

I'm going for my 12 week scan this week, so hopefully he can take some measurements and let me know if there is anything suspicious.

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If you are nearly 12 weeks now and had it 2 weeks ago, is it possible you actually had it too early? The place I’m getting the Percept nipt test won’t do it until closer to 11 weeks, just to ensure that bub is definitely over 10 weeks gestation and they can get a decent sample.....

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I also had invalid Harmony tests twice. It was very stressful.


In the end I got a CVS done and it was all OK. I was 39 when I had my test and I did it for my own peace of mind. I wasn't overweight, using IVF or had twins. I did end up having gestational diabetes so I don't know whether that affected things.


I hope it all goes well for you OP.

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I had the Harmony. I had it at 11.5 weeks and got results. I was older than you at the time.

No expert by a long stretch, but l think your test was taken on the very early end.

I would take another test and not Google.

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Are you on reddit, or could you get on it? I recently had a drama with my harmony (very rare trisomy - amnio came back clear though) and there is a reddit thread that has some INVALUABLE information and great advice. Let me know if you want the details?

Amnio isn’t really risky for most women, it’s actually very safe these days - but obviously your history will need to be taken into account.

Sorry you’re going though this, it’s absolutely awful.

If you’re not on reddit or can’t get on, I could post a thread for you and put the reply back here?

Hoping it’s just a bad draw and a second one has good results.

 

I don't have an account of it, but I go on. it all the time. Give me the link and I will go through it. Thank you very much :)

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Guest BusbyWilkes

Remember it’s your body and you get to consent to any tests. Have your 12 week ultrasound and do the repeat Harmony and take things from there. If you don’t want an amnio then you don’t have to have one, particularly if you would choose to proceed with the pregnancy regardless. Obviously that is a very individual, personal decision.

Fingers crossed it is just an anomaly as it was tested a little too soon.

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Spidey_Senses

I was an older mum (42) for my 3rd and had the harmony


The test will be more accurate the later you have it (up to about 15 weeks from memory). If you wait a couple of weeks then have the test again it will likely get a result. It is correct that if you are very overweight it can mess with the result. The important thing is that there is enough fetal fraction in the test sample but the results will show this. You can ask the doctor about it for further info.


I was worried but my harmony test came back very low risk and it was correct.


Getting no result is not uncommon and usually fixed by testing again in a couple of weeks. I will mention harmony is still not 100%. I did come across somebody online who had a 'false negative' for trisonomy 21. But this is statistically very rare, the accuracy is above 99% according to my doctor.. Amnio is actually not 100% either as there is human error.


Please remember that even at your age statistically you are much more likely to have a pregnancy that does not have chromosomal abnormalities than one that does.

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The subreddit is r/NIPT - just be warned though, there is A LOT of information in there, some of it quite confronting, and might be worth waiting for a second test until you venture in - as your test likely was just done too early.

As above, you don’t have to do any tests you don’t want to - also remember that the NIPT is not diagnostic, just a screening process. It is very good however at screening against the 5 main trisomies in your age group, but obviously that’s not a worry for you right now.

Low fetal fraction can point at some not good things, but I wouldn’t be panicking after 1 failed result. Your NT scan should give you some reassurance if all is well. Let us know how you go and good luck!

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The subreddit is r/NIPT - just be warned though, there is A LOT of information in there, some of it quite confronting, and might be worth waiting for a second test until you venture in - as your test likely was just done too early.

As above, you don’t have to do any tests you don’t want to - also remember that the NIPT is not diagnostic, just a screening process. It is very good however at screening against the 5 main trisomies in your age group, but obviously that’s not a worry for you right now.

Low fetal fraction can point at some not good things, but I wouldn’t be panicking after 1 failed result. Your NT scan should give you some reassurance if all is well. Let us know how you go and good luck!


It's so frustrating that the test that is supposed to show if there is an anamoly, comes out invalid BECAUSE there is an anomaly. It's pointless.

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There are a lot of flaws with the test I have discovered - and I believe people aren’t counselled enough on understanding certain results.

As I said I wouldn’t panic just yet, see how your 12 week scan goes and retest, and hopefully you where just a scratch too early. Good luck ♥️

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So an update


My ob called me and they will redraw the blood today. In the meantime, he has booked me in with a specialist on Monday to do the 12 week scan. If they see any soft markers for Down Syndrome or any other issue, they will do a CVS on the spot. A CVS because it's too early for an amnio.

This is very confronting.

I expected to do an invasive procedure but maybe in a couple of weeks when the retest results come back. I didn't expect this Monday. So scary.

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Don’t forget you can say no, Yasmine. If you don’t want the CVS on Monday, if you need time to think about it and process it, you can say no.


Obviously is also totally fine if you do want to go ahead and get it straight away too. It’s just that the way your post is worded made me wonder if you might be feeling a bit railroaded.


Your body, your choice.


Best of luck for the scan tomorrow x

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So, I did the scan and the doctor did not see any markers for DS or any other issue, so no cvs was done (thankfully). Now, I'm waiting for the results of the second harmony tests. And we will see from there.

Thanks everyone for the support and advice.

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