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Antenatal tests

High risk for downs, Edwards and pattau

10 replies

helsbells39 · 21/10/2020 17:15

Hi all, I don’t know if anyone can reassure me. I feel like this pregnancy is going against me all the
time. At 8 weeks I bled, had a scan and was
told alls fine only to be told at my 12
week scan I had miscarried one twin. I had my combined screen and came back as 1:14 downs and 1:23 Edwards and pattau. It really frightens me that it’s all three. I’m 39 so I know that goes against me. NT was 2.9 and apparently my PAPP is a little low.
I was ineligible for the harmony blood test because of the other now empty sac and couldn’t have CVS because the placenta could contain DNA of other baby.
Have another week to wait for an amnio.
I had to have a CVS with my last baby as 1:26 just for downs which came back clear but I feel so much more afraid this time
as it’s all three. Has anyone else had this and the added complication of twin loss? Really struggling x

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Paperyfish · 22/10/2020 17:37

I’m so sorry to hear this. I haven’t had experience of your situation but I didn’t want you to be un replied to at such a difficult and worrying time. I had a 1:18 for downs a few weeks back and eventually got the all clear. Am also 39 and was out of my mind with worry. It’s a really good sign your nt measurement is in normal range and your Papp not too low. Your age will have bumped up your number a lot. Hopefully you can have your amino and get the results quick. Think is usually quicker than harmony and more definite answer. Have you got a date for it yet?

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helsbells39 · 22/10/2020 18:34

Thank you so much for replying. Yes my amnio is booked for this coming Monday. I just feel like a mess all the time x

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JennyMY · 22/10/2020 22:24

Hi @helsbells39, my case is a little different but I too was pregnant with twins, of whom
one was diagnosed with Edwards Syndrome at 17 weeks. My 12 week screening had come back as increased risk for Downs for that twin (1:119 so not very high risk but higher than the 1:150 cut off) - her risk for Edwards was 1:3580 so not high at all. I think my blood results were very much affected by the fact they were twins - she didn't in fact have Downs but did have Edwards, but only the low PappA score was really picked up on because the other twin's healthy results masked the low HCG. My NIPT test came back 'inconclusive'/failed, and I had to have an amnio where they took sample from each twin. I finally got diagnosis when those results came back and as Edwards is fatal we made the heartbreaking choice to terminate that part of the pregnancy. The surviving twin tested negative for all the trisomies and he is so far healthy at 22 weeks.
I think my point is that yes, the blood results can be made more complicated by twins, and it does take a lot longer to get diagnoses/tests but if the twin pregnancy was fraternal there is a good chance that your surviving baby is ok. I really hope so, and that Monday goes ok for you. This waiting is awful and feels horrendous but you WILL get through it, and I hope you get some answers and a good result. Thinking of you xx

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helsbells39 · 22/10/2020 22:36

@JennyMY thank you for replying and sharing your experience. I’m so sorry about your daughter but I am pleased your little boy is doing well. It’s definitely something I have been wondering about, whether the DNA of my lost twin may have impacted the tests. I feel like I have the weight of the world on my shoulders at the moment and just feel so upset that I have had to go through this with both of my pregnancies now. I’d hoped somehow to catch a break. I’m
Not sure how often people have high risk results with consecutive pregnancies or I’m just a lucky one. The days seem endless at the moment trying to get to Monday.......and then there’s the wait again for the results x

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helsbells39 · 26/10/2020 11:38

Just had my amnio and off to get paracetamol as I’m in a lot of discomfort. Not as bad as the CVS in my last pregnancy though. Was told my PApp-A was 0.25 so not sure if I should be panicking more now or not. So I will be 39 and 9 months when I’m due, NT of 2.9 and Low Papp-a of 0.25 😞

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Paperyfish · 27/10/2020 08:42

Hi- glad to hear it wasn’t as bad as last time and sure it must be a relief to At least have it done now. Hope they get you your results quickly and the results reassure you.

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helsbells39 · 29/10/2020 19:16

Just wanted to update and anyone else that stumbles across this thread looking for reassurance. Despite all of my hurdles and the fairly bleak results my Amnio came back last night as all clear no issues. All they want is to give me extra scans to monitor for growth because of my low papp-a but in the currentl climate of limited face to face with a
Midwife I actually take extra scans as a good thing and feel lucky to get them xx

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JennyMY · 29/10/2020 20:30

This is such good news! So happy for you that the amnio came back clear. 😊xxx

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Paperyfish · 30/10/2020 16:59

Such a relief! Glad they are looking after you with extra scans.

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BabyYoda · 30/10/2020 17:03

So glad you had a good result. Fingers crossed for an easier time with the rest of your pregnancy.

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