Harmony test came back positive Patau's - waiting for results of amnio

[help2019]

Hi All

I'm not sure if I've come to the right thread. But have had devastating news over the past week and am reaching out to those who may understand..

Last Wednesday I got the worst call of my life - our harmony test results had come back 91% probability of our baby having Patau's syndrome. This was a massive, massive shock - our 12 week screening tests with the NHS had come back absolutely fine, scans all normal, and we'd been given a low risk 1 in 100,000 chance of Patau's. The reason I'd opted for the harmony test as well is literally just chance - my midwife mentioned it as another option while I was waiting for my screening test results, and as a pretty neurotic, anxious person I thought it might be handy just for extra peace mind.

While we waiting for the results of the harmony test, our NHS ones came back and were very low risk (as above), so when I saw the call from harmony I had absolutely no concerns whatsoever there would be anything bad..

Since the results I feel like my whole world has come crashing down. I had an amniocentesis on Friday (at 15 weeks +2), where I saw the baby on the scan and accepted it would most probably be the last time I'd see him. We will find out the results on Wednesday (when I'll be 16 weeks.) The consultant did say the harmony tests are only 91% accurate, and our baby looked fine and totally normal on the scan which is unusual for Patau's babies, who usually have many abnormalities seen on scans, but still - I feel like she gave us an almost unbalanced amount of hope. Because ultimately 91% is a high, high chance. So we're living now in this awful pergutory of waiting.. We can't fully grieve our loss, but we can certainly feel immense stress and worry at the likelihood of the loss. My partner is coping by holding onto hope - but I can't hope, I'm just telling myself the results will be bad and coping that way.. I'm trying to unconnect myself from the baby, because if the results are Patau's then my DP and i are in no doubt that there would be no way we'd continue this pregnancy - Patau's babies rarely survive to term, and if they do they only survive a few days..

The sadness, the anxiety, the loss is sometimes overwhelming. A big part of me just wants to know the bad news and grieve..

I was just wondering what other people's experiences are in similar situations? How do you cope with the shock and the loss? How do you cope with the worry of subsequent pregnancies? One part of me wants to never get pregnant again, the other wants to try as soon as possible. Ultimately I just feel so lost..

[GloriaMumsnet]

Bumping this for OP

[chinateapot]

I’ve never been in this situation so can only imagine how hard it must be. It must feel like forever until Wednesday and some answers. Thinking of you

[Emmajayne18]

Hi, I have not been in this situation either but all I wanted to say was don't loose hope yet.

There is still a chance that the amnio will come back ok. I know this is easy to say - I am currently waiting the results of my harmony test and completely neurotic.

Hoping that someone who has been through this may be able to help with some reassurance.

Thinking of you x

[Emmajayne18]

@chinateapot another member posted a link to this article which you may find helpful x

www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html

[SarahD19]

@help2019 so sorry you’re going through this. I can understand to a degree as I have had investigations due to risk of Edwards and Pataus for my current pregnancy. It is truly terrifying.

The good news is that this is a “high risk” result and nowhere near 91% accurate. It is criminal the tests are advertised as such imho.

There is still a more than 50% chance your baby is healthy. From what I recall, NIPT is only about 45% accurate for Pataus.

Good luck and keep us updated xx

[GinUnicorn]

I’m so sorry for what you are going through OP. I don’t have any experience personally but I did have a friend who was higher risk for Down syndrome and her baby turned out to be fine sorry I don’t know her exact stats though. Thinking and wishing you the best

[SarahD19]

@Emmajayne18 has already posted one of the links highlighting NIPT misuse through misleading stats.

The thing to remember is ultimately NIPT is a Downs screening tool that should be advertised as 80% accurate at best for Downs. Downs is the only trisomy it can risk assess to more than 50% accuracy xx

[TheDIsiilusionedAnarchist]

My daughter had trisomy 18 and in hindsight there were abnormalities from early on but they didn’t come together until the 20 week scan (we chose to continue the pregnancy) it’s hard living with the mixture of hope and despair while waiting for amnio. NIPT is not as accurate for 18 and 13 as 21. I know people who have had false positives

My daughter lived three months but some babies with trisomy 18 and 13 do live much longer even into 20s and 30s albeit with severe disability.

Hoping for a good outcome for you.

[MotherofKitties]

Hi OP,

Sorry you're going through such a stressful time

I just wanted to say that you have to take 'positive high risk' Patau results with NIPT tests with a very large pinch of salt. The accuracy rate for a positive NIPT result for Patau is very, very low, and there's well over a 50% chance that you've been given a false positive.

NIPT isn't diagnostic, and you've done the right thing by having an amnio given your situation. Nothing anything we can say will put your mind at rest I know, but I have my fingers crossed for you for your results

[PrayingandHoping]

I have been in a similar but not same position OP

I had a low risk 12 week test. At my 20 week scan my baby had no anomalies but they did measure her small for gestational age (which was 100%accurate as she is an ivf baby). So I ended up under fetal medicine and they ran a whole variety of tests that could cause a baby to be small and all came back clear. The only test not done was an amnio which we declined as there was a miscarriage risk and ultimately on the scan they could find anything life limiting so we weren't willing to risk. We opted for NIPT knowing the accuracy rate. When the result came back high risk for T21/downs even the consultant the said she shocked as its so rare given our first test and lack of markers on scans. She worked out our false positive rate and we ultimately continued the pregnancy treating baby as if she had the condition and still refused the amnio.

In our case post natally it was confirmed the NIPT was correct. Interestingly even when she was born the consultants said they would never have tested her as she doesn't have any physical features. But there you go

So similar but different as the outlook for a downs baby is not the same as Pataus

I wish you all the best.

[SarahD19]

@help2019 This is precisely the reason I have posted so much about NIPT statistics and trying to raise awareness of the dangers/limitations around how it is currently being rolled out.

In my experience, midwives and even consultants cite NIPT as being 91-99% accurate. However it has been flagged up, that depending on the test, NIPT can only accurately identify/predict Edwards or Pataus in 30-50% of cases. As I’ve said, on average I think it is about 45% accurate for Pataus.

There needs to be more awareness about the accuracy of this test when it comes to high risk/positive results. Xx

[help2019]

@sarahD19 I've read your posts on the other thread - really interesting and it has given me some hope. I don't quite understand why some people didn't like you saying what you've said?? I've read similar information on the internet..

If anyone does have reason to hope it is us - we had a normal 12 week scan, were given 1/100,000 odds of Patau's from the NHS screening, our scan before the amnio on Friday was normal. And yet... the only thing is, holding onto any hope does feel so dangerous, because surely it will just hurt even more when the amnio results come back confirming the harmony test?

And what is even harder and more bewildering is how everyone says different things - our midwife pretty much took the harmony test as a foregone conclusion, she was very gentle and compassionate but very much prepared us for the outcome and talked us through termination options, next pregnancies, etc. Whereas the consultant who performed the amnio was so blase and talked about false positives - almost as though we were making a dramatic fuss out of the result. The advice from ARC has been very guarded - very empathetic but very much "we have heard of cases of false positives", but in no way reassuring us that this could genuinely be an outcome.

One more day to go until we find out.. After all this trauma just clarity will be relief, as awful as that is to say..

[SarahD19]

@help2019 From my experience, health professionals get it wrong A LOT.

It think it will pretty much stay with me til I die when the consultant spoke to us after a positive CVS result and gave our baby a 1% chance of survival. Yet I read the latest medical research and found with Edwards and Pataus, CVS can be wrong as much as 20-30% of the time. The instances of zygotic rescue and vanishing twin syndrome are a LOT more common for these conditions. This can result in mosaicism in the placenta- and “false alarms” even in CVS which is more accurate than NIPT.

CVS and NIPT only look at placental chromosomes which do not necessarily reflect the foetus - in fact NIPT only analyses cell free DNA and if it happens to get placental cells, that’s the best case scenario. The tests are flawed.

I’m now 32 weeks pregnant and being told baby is perfectly healthy. Of course after 3-4 months of being told the worst, I find this hard to accept and still feel very anxious - and wanting to make sure other people do not have similar experiences where possible.

I can see where people don’t like my posts, because for the majority, they will have negative NIPT results and be reassured - to imagine luck not going that way is scary. Likewise, as much as any condition is scary to be tested for, the lethal implications of Edwards and Pataus are so profound - and most just see NIPT as a Downs screening tool. It is much more suited to Downs in fairness. But I know for me personally, a Downs prognosis compared to Edwards or Pataus is very different - as the latter most likely means facing your baby would likely die.

I hope your amniocentesis results come promptly and will be thinking of you. If it helps to PM me, I’ll help however I can xx

[Liveforholidays]

I guess this is what comes from it being a relatively new test. We all know and accept that the traditional screening test is flawed which is why we head for other options. I opted for NIPT in favour of amnio because at the time it was sold to me as being a good and robust second screener. I'm very, very nervous that it may have given me a 'false negative' and wish I'd opted for the amnio now. If I was to rewind time I'd definitely skip the NIPT and head straight for a diagnostic test (I'd be very nervous about CVS based on what I've read on here too!)

[SarahD19]

@Liveforholidays I just wanted to reassure that the false negative frequency of NIPT is really very low. I know I cannot change what you feel but just wanted to try to reassure you.

It is the false positives that are the issue. And as you say, so many people being unaware of these limitations (unlike with NHS screening where everyone knows it’s limited!)

[Liveforholidays]

Thank you. Yes I realise that it is the false positives which are the main issue. However this wasn't explained to me and at the time when you aren't thinking straight this seems like a perfect choice over the amnio. In time I think NIPT may replace the standard screening test and then its limitations will be more widely known and accepted. We are just living in the time of transition. I won't know for certain until baby is here (I'm 3 months time, eeek!) and in a strange way am preparing myself for the very small possibility of having a child with Downs syndrome.

[SarahD19]

@Liveforholidays I think you could be right to some extent. I think it is inevitable as the tests develop, it will become more embedded and routine over time. Hopefully as science develops the knowledge will also become more widespread so there’ll be less casualties of misinformation/misuse.

Currently the serum marker (which make up part of the NHS screening) on their own hold almost double the positive predictive value for some conditions compared with NIPT however, so I think the process will have to be refined. In many conditions such as Downs detection, NIPT is far superior. And there is lots of evidence it works well as a second screening. In fact a lot of the research shows the PPV is much higher when there has already been assessed “high risk”. In “low risk“ groups, NIPT has far less accuracy - which is why the processes all need to be refined and evidence based imho

[Baggins83]

Hey, I was just wondering how you were getting on?

[help2019]

Hi all..
So update is.. there is no update.... Last Wednesday we got the call with our results - and almost most devastatingly of all the amnio sample they obtained was blood-stained, so it's had to be sent off for another test, and we were told we'd have to wait another 2 weeks for the results..
I was absolutely devastated when we got this news - my bump is growing every day and yet I can't allow myself to connect with it. We have to continue in this awful, awful pergutory of not knowing what the future holds and this awful possible diagnosis hanging over us.
The only silver lining is the continued research we've done on NIPT results, and after speaking to a doctor at the harmony test we've had confirmation that the chance of the baby having Patau's is indeed much, much lower than 91%. My own individual risk has been assessed at 13%! I completely agree with @SarahD19 that it is criminal this information wasn't given to us initially, even when we received the results, and we've had to go back and ask after a week of absolute trauma for us and our families. What's worse is the consultant and midwife we've seen since didn't advise us either - they wouldn't commit one way or another to any sort of likelihood/outcome - maybe because there just isn't enough information about the NIPT test widely known to give an educated opinion. It's just unbelievable we could be given results of a test - saying clearly 91% accurate - and not be given any further information. Completely agree that more information needs to be more widespread on the limitations and inaccuracies of this test- not only on what a positive result actually means - but also on how badly the private companies are set up to manage and support with positive results...

[SarahD19]

@help2019 I am so sorry this has happened to you. Sadly your experience is not uncommon from what I have come to understand, in terms of “high risk” NIPT for many conditions, particularly when not Downs Syndrome. The professional network/training/understanding is extremely problematic.

It is good you now have more information, but your experience so far is completely unacceptable imho. I also had the experience of contaminated amniocentesis and procedures being drawn out - and it is more frustrating to think you may be going through this process and trauma needlessly and due to misinformation. It is absolutely gut-wrenching. I was lucky I didn’t have the full 3 week delay although was initially advised it was a possibility and honestly just cried non-stop as the process was already so drawn out. People think the tests are quick/straightforward - and for many they can be. Likewise for many NIPT can be a source of reassurance and closure. Nonetheless, it does not make poor practice acceptable as a smaller minority are impacted.

Thinking of you. Please feel free to PM if I can help/support in any way. Xx

[help2019]

Hi @SarahD19

Thank you so much for your reply.. I can’t believe you had a contamination issue too.. did you know why that happened and what it meant? I’m a little nervous that an ‘inconclusive’ result means bad news more than good news - i tried to get an idea from the doctor today but he said it didn’t mean either.. it’s just hard not to look into it and wonder if there’s any indication either way x

[SarahD19]

@help2019 I don’t think it means anything bad in my experience. The lab were able to process more quickly than anticipated and gave me a “normal” result during the initial test. I then awaited the long-term culture/FISH results a couple of weeks later which suggested a low level of mosaicism that was not detectable during rapid amniocentesis - which then warranted more waits and tests 🙈🙈

For me the issue was that I’d experienced both a subchorionic haematoma and still had a bleed from CVS (the site was very sore/swollen for a while). Initially amniocentesis wasn’t even viable for me due to complications - so I’d been waiting a month for the procedure even before all of that.

I hope you get (good) results soon and it is not so drawn out for you xx

[help2019]

Hi all...
Just an update that the results of my amniocentesis finally came back yesterday... and I am absolutely thrilled to say they were completely normal - my baby does not have Patau’s. So my NIPT result was indeed a false positive.
I’m still so happy I’m not quite at the “how could the harmony test have put me through such stress” stage... but this is indeed a story for everyone that NIPT is NOT 100% accurate and to steer clear unless needed as secondary screening for downs.
All the best everyone, and thank you for your support xxx

[Callimanco]

Congratulations OP, now enjoy your pregnancy xx

[Lemonysherbet]

@help2019 I'm so happy for you. Sitting here in tears reading this. I've not been through it but being 29 weeks pregnant I can't imagine the trauma you went through waiting. I really hope you get to enjoy your pregnancy now 🥰