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1:2 chance of Edward's/Patau's at 13 weeks

8 replies

dlectro · 03/07/2024 11:50

I'm 36, and this is my first pregnancy. Had my 12 week scan last week, and had blood drawn for the combined screening.

Just got a call from the midwife to say I have a 1:2 chance of Edward's / Patau's due to some low levels of protein that I didn't catch the name of. My partner and I are going for the diagnostic test immediately to rule things out.

I know this was a risk with a pregnancy at my age, but it still hurts. Seeing some other posts on here make me feel hopeful, but I just needed a place to share my thoughts and vent :)

Thank you for reading

OP posts:
Hope2024 · 03/07/2024 14:29

Hi, I hope you’re okay, I’m not in the exact same position but my baby has been diagnosed with a cystic hygroma at 11 weeks measuring 6.2mm behind the neck and been given a 20% chance of survival. I was told it could be a chromosomal problem such as downs, Edward’s or Patau’s syndrome. I opted for a CVS procedure and it wasn’t a pleasant experience but I would do it again in a heartbeat if I needed to. The worry is worse than the procedure itself! I got the rapid results quite quickly and have been told the baby is clear of all 3 but isn’t out of the woods yet until we get the full results which we are currently waiting for! I hope it all goes well for you, it is a worrying time and an awful position to be in but try to remain positive, power of the mind is amazing!

AimeeLou84 · 03/07/2024 19:03

Hey OP. Sorry you’re having to go through this awful wait. I’m currently 38 weeks pregnant at 39 with my first baby. I was told I’d have high risk for all 3 syndromes due to my age and although my numbers were different to yours, the risk scared me as once my bloods come back they confirmed high risk. I then had NIPT and the wait for the results sent me out of my mind. What I would suggest is try and keep yourself busy while you’re waiting for the results to come back, because I didn’t and I fell down a hole which caused me no end of stress and made me ill. Keep positive and keep reading through the positive stories on here. I wish you all the best for your results x

dlectro · 04/07/2024 12:02

Thank you both - yesterday I was feeling a bit blue about it all, but today I'm feeling more hopeful. Spoke to the midwife again, will be getting a more elaborate ultrasound scan, followed by a diagnostic test.

Most things seemed 'average' in the 12 week scan, as well as the blood screening, only marker was having low PAPP-A numbers.

So, we'll see how it goes!

OP posts:
MrsScotland · 04/07/2024 18:45

Hello. Just wanted to say I’m here if you have any questions. My combined screening came back as 1 in 5 for T13/18, it was quite apparent in our scan as the baby had a 8mm NT and cystic hygroma. Sadly I had a two week wait for a CVS and had NIPT in the meantime, which came back high risk for T18. I didn’t end up having the cvs as it was just prolonging the agony for us.

I was 38 and I was heartbroken, terrified we’d not get another chance. 4 cycles later I was pregnant again and I’m now 23 weeks x

dlectro · 19/07/2024 10:44

Ok, so - I too opted for the CVS procedure, and as @Hope2024 mentioned it was highly unpleasant. My partner and I decided to forego the NIPT and go straight to the diagnostic test.

The recovery was not pleasant either, as I picked up Covid somewhere and was floored for a week!!

I got the results via phone call on Tuesday, and they told me that everything was fine ✨I didn't realise how much the whole thing mentally affected me until the moment the midwife said I don't need any more appointments with the Fetal Medicine Unit. So relieved!

In the heat of the moment I forgot to ask about the culture results, so I may still give them a call about that.

They put me on aspirin for the papp-a numbers, so we'll see in the next blood test how that's going.

Thank you all for sharing your stories and providing support, it's comforting knowing I'm not alone.

OP posts:
dlectro · 19/07/2024 10:45

ah, looks like i added my response to the original post 😅sorry i'm still new here, learning the ropes

OP posts:
SquigglePigs · 19/07/2024 10:49

dlectro · 19/07/2024 10:44

Ok, so - I too opted for the CVS procedure, and as @Hope2024 mentioned it was highly unpleasant. My partner and I decided to forego the NIPT and go straight to the diagnostic test.

The recovery was not pleasant either, as I picked up Covid somewhere and was floored for a week!!

I got the results via phone call on Tuesday, and they told me that everything was fine ✨I didn't realise how much the whole thing mentally affected me until the moment the midwife said I don't need any more appointments with the Fetal Medicine Unit. So relieved!

In the heat of the moment I forgot to ask about the culture results, so I may still give them a call about that.

They put me on aspirin for the papp-a numbers, so we'll see in the next blood test how that's going.

Thank you all for sharing your stories and providing support, it's comforting knowing I'm not alone.

That's wonderful news OP (well, except the covid part!).

Hope you will be able to enjoy the rest of your pregnancy.

MrsScotland · 19/07/2024 10:49

What a relief for you, so pleased

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