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

30 replies

help2019 · 02/03/2020 15:58

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..

OP posts:
SarahD19 · 14/03/2020 11:02

@help2019 so glad you have that reassurance at last. Been thinking of you. Like others have said, hope you can enjoy your pregnancy now. And I think it is great you are also drawing awareness to some of the issues around NIPT for others too xx

welshmercury · 15/03/2020 16:43

I have a high NT at 4.5 and been offered harmony and reafing this has given me some hope. we will have the tests but I'm not sure on the amino as it's a needle and I have a fear. I'm senfing love and hugs to all

Binterested · 16/03/2020 14:40

Wow! What great news. So happy for you OP.

Mummytothree321 · 03/06/2020 18:49

Hi all this is the first time on chat and just wanted to to be able to chat
I'm 41 and After 1:78 of downs after first NHS screening test and also having a low PappA (when having scan midwife said all looks fine😕) I decided to have a harmony test done as a follow up, I've just received yesterday that the sad news is I'm in the high positive bracket
Devestasted and emotional right now I've been offered an amniocentesis which is to happen on Monday and wondered if any of you have been through this and any positive outcomes
This is my fourth child I have two girls aged 10 and 9 and the youngest only being 6 months he was born last year
This was a surprise pregnancy and wondering if it's gone wrong with falling pregnant so soon 😢
A nervous wait and feeling very emotional, I'm currently 15weeks 2 days xx

Balajake · 05/06/2020 16:13

@Mummytothree321

Hi all this is the first time on chat and just wanted to to be able to chat I'm 41 and After 1:78 of downs after first NHS screening test and also having a low PappA (when having scan midwife said all looks fine😕) I decided to have a harmony test done as a follow up, I've just received yesterday that the sad news is I'm in the high positive bracket Devestasted and emotional right now I've been offered an amniocentesis which is to happen on Monday and wondered if any of you have been through this and any positive outcomes This is my fourth child I have two girls aged 10 and 9 and the youngest only being 6 months he was born last year This was a surprise pregnancy and wondering if it's gone wrong with falling pregnant so soon 😢 A nervous wait and feeling very emotional, I'm currently 15weeks 2 days xx
Gosh I’m so sorry you had no reply. I know this is a worrying time but high screening results don’t necessarily mean something is wrong. If you have the Amnio you’ll get a real answer to if something is wrong. I think you should make a thread so that more people can see this a help you through this difficult time
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