Patau Syndrome

[Hannahusky]

I'm somewhere between completely devastated and utterly numb right now.
I'm 31 weeks and ended up at fetal medicine just last week because of a few issues on my scans. I had a private scan 10 weeks ago but the hospital didn't take their opinion seriously and I was reassured I had so little to worry about.
We had amnio earlier in the week with fetal medicine.
At 31 weeks our baby has been diagnosed with Patau syndrome.
I've been so happy, had a baby shower and everything. You're not meant to get this kind of diagnosis at 31 weeks. It's just not meant to happen and I can't believe it has.
My husband and I have agreed we will be tough and get through the next few days and weeks which I know will be a nightmare. We both know we want to try again.
Has anyone here gone on to have a healthy child after Patau? And what would you recommend we do in the next pregnancy to stop this happening again- i.e. any tests you would recommend? I'm in NI so our antenatal tests are wick but I'll pay whatever the price for scans privately.

[Buzzfrightyears]

I’m so sorry for what you’re going through. I can’t begin to imagine how you are feeling. As a nurse I wanted to reassure you that this has happened entirely randomly and there is nothing you could’ve done to prevent it. I believe the Harmony test, which is a blood test, detects Patau syndrome as well as Edwards and Down. I’m not sure if it’s offered in NI though, but it will give you the reassurance you may need. The chances of it happening again to you and your partner are no higher than anyone else’s - it really does occur randomly. I am sending you strength.

[Hannahusky]

Thank you so much. We have been very much reassured this is full Patau and not due to translocation so this has been a freak incident at conception and have been advised to try again in the not too distant future and have been reassured they can give us a nuchal scan at 12 weeks and amnio at 16 weeks so we rule anything out early on but the head of fetal medicine has reassured the risk of reoccurence is around the 0.5 per cent mark.

[wishfull888]

Really sorry to read this, I can't imagine the shock and the pain. Sending you strength to get through it
Yes it's the harmony test that can detect the likelihood of the 3 chromosomal disorders in a foetus at 10weeks. Privately it's around £3-400. The timing of it is important but I'm sure foetal medicine will advise you. Whilst you have been told this isn't translocation, you could still request genetic testing for you and your partner to rule it out. After a healthy first child, we had a chromo diagnosis at 12weeks (not Pataus) & I have gone on to have a healthy child. I did the harmony, but not the diagnostic with him because I was so frightened of miscarrying. In hindsight I would certainly do the diagnostic because the entire pregnancy I was extremely anxious as to whether the baby would be healthy . X

[NoCallerID]

Oh @Hannahusky, I'm so sorry. This is utterly devastating.

We had a TFMR in feb due to chromosomal and physical anomalies. We've been pointed towards a charity called ARC (antenatal results and choices) and this is been a saving grace for me.

We are not pregnant again yet and the fear of having another baby with issues is terrifying. As long as it's not genetic (isn't in our case) I'm just hoping that lightning won't strike twice. Sending you all my love xx

[Hannahusky]

So sorry for your losses. Thank you so much. The most reassuring thing I'm hearing is that pregnancy with a healthy child is possible and I'm sure any future pregnancies will be terrifying but it's good to know we have tests and things we can do. Do you know is the harmony reliable? I have heard some mixed reviews.

[NoCallerID]

@Hannahusky it's not for T13/T18. It likely wouldn't give you a false negative but there have been a lot of reports for false positives.
This is definitely something to keep in mind. In most hospital trusts a harmony test isn't diagnostic so if you were to TFMR (or decided you wanted to know but carry full term either way..) you'd have to get a CVS or Amnio done which could then come back low risk.

[stopchewingeverything]

Sorry you are going through this OP. As previous posters have said, have a NIPT test (Harmony etc) at 10 weeks. They are very reliable and @NoCallerID they are for T13, T18 and T21. It isn't a diagnostic test though so if it were to come back high risk then you would be recommended a CVS or amnio to confirm the result.

[KTD27]

@Hannahusky I’m so sorry Hannah.
I had a TFMR at 18 weeks due to Edwards Syndrome a few years ago now.
We had the harmony test at 9 weeks for our subsequent pregnancy but the fetal medical consultant had already said just as a PP that it’s like lightning striking twice and indeed our next baby is totally healthy and has all the correct genes in all the right numbers and places. Totally one of those things that happen. I’m so sorry you’ve found out at this late stage. for you all.

[NoCallerID]

@stopchewingeverything Yes, they are for T14, T18 and T21. However, the the 99% reliability they talk about when advertising this test is only for T21, T13 and T18 is much much lower, I think something like 50%-70%. Tons of studies on this. You'll find loads on here too.
I have had it twice and will have it again, but results (other than T21) should not be considered confirmed. Even T21 can still be mosaic....

[Hannahusky]

Thank you all so so much for your kind and reassuring words. I know that I want to try again. I am going to take full maternity as I feel I need it. I want to spend time with my husband and as he's self employed I can work with him to keep me busy, when we are ready.
I am terrified of this happening again but when I hear how many people go through this and get a healthy child after it really does help so much.

[Hannahusky]

Did any of you have amnio in your subsequent pregnancies? I know NIPT is there but to be honest I don't think I would be convinced.

[bettythebutterfly]

I had a TFMR nearly twelve years ago for T13. Since, I have had two healthy children with no further complications. I did not have an amniocentesis for either of my subsequent pregnancies, but did have frequent scans to make sure everything was developing as expected.

Thinking of you, OP. To receive such news is absolutely devastating. Take care.

[KTD27]

We had the NIPT Both times and the difference between our TFMR pregnancy which was 1:100 and the normal pregnancy which was 1:100,000,000 was such that we didn’t have the amnio no.

[PlainJaneSuperbrainthe2nd]

Hi OP
Really sorry to hear this - it is devastating news, especially so late in pregnancy.

Our first child was also diagnosed with Patau's at 21 weeks and it was an awful experience - I was showing and everyone knew. We were really low risk at all the 12 week scan & tests. (It was a big teaching & research hospital and there were staff who clearly felt it should have been picked up at 12 weeks)

We had a termination (an easy decision as we were told he wouldn't survive outside the womb and I would most likely miscarry) and I had to actually give birth. It was so sad and I feared he might have been my only chance.

However we did conceive again and became part of the research study that has meant the harmony test will now be offered on the NHS. That test confirmed our second baby was fine and is very accurate. I sobbed through my 20 week scan after the trauma of the last one but it was all fine. I now have a gorgeous 5 year old.

We went on to have another child and everything was fine too - we paid for the harmony test with that one and it was wonderful to get the results.

Because of my age with my subsequent pregnancies (over 35) and the previous Patau's our risk factors were set really high by the NHS and if it hadn't been for the Harmony tests it would have been worrying, but it meant we didn't have to risk an amnio.

Anyway, the main thing is to reassure you - we had a happy ending and there is every chance you will - Patau's is usually just bad luck. I thoroughly recommend getting the harmony test as it carries no risk to the baby and can be done fairly early so you shouldn't have to go through anything like this again

[Hannahusky]

Oh goodness I'm so glad to hear you had a healthy pregnancy after!! I can imagine the 20 week scan must have been terrifying.
We don't have NIPT of any kind on the NHS but money isn't an obstacle and we can have it privately for around £400 which doesn't bother me at all.
I know for these diagnoses you can maybe terminate early but we don't have full abortion care in NI so we are going in tomorrow to be induced....chances of him living for a short time are slim but not none and I don't know what will be worse.
We are taking solace in the fact we have been told this is incompatible with life and we don't have to try and make decisions like should we give him a chance. The hospital have been clear that if he's alive he will receive palliative care and they will ensure he is in no pain.
All we can do now is stuck together, battle through this next chapter and hope that our rainbow won't be too far away.
I know a girl who went through loss (not same condition) and she got pregnant two weeks later.
Did any of you leave it a long time or did you just start trying very soon after? I don't think I want to leave it. I think the main thing that will heal us is having a healthy child.

[Deliqueen]

Hi. So sorry you're going through this💐. I had a diagnosis for our boy at 21 weeks. Unfortunately he had died by the time we went back to the hospital to discuss our options so I never had to make that heartbreaking decision. I am very thankful I got to give birth to him and hold him. You will find the strength you need to get through this.
I was an older mum, we already had 1 healthy child and went on to have another perfectly healthy child 11 months later so please do hold on to that hope. I wish you well on your journey. 💐💐xx

[Hannahusky]

Thanks so much everyone for your kind and reassuring messages. Just to update, my son was born asleep on the 29th of June. He was absolutely beautiful and my mum helped make the experience of meeting him beautiful even though it was so sad and so traumatic.
I am raising a formal complaint as he had quite a few different things that were clear markers for Pataus and they were not taken seriously. I was actually so concerned after my 20 week scan I paid for a private scan that picked up a heart issue but again the hospital didn't take it seriously enough which led to me getting the Pataus diagnosis at 31 weeks.
All the stories I'm hearing about people who have gone on to have healthy children after the same or similar conditions is giving me so much hope and I'm so thankful to hear them.

[Deliqueen]

@Hannahusky, what a lovely tribute. I'm so sorry for your loss💐 and wish all the very best for the future. Xxx