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  1. #1
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    Default High risk for Down syndrome :(

    Hi ladies, we had our NT+ yesterday, hoping for some good news for Christmas. Apparently there's a 1:185 chance of downs, which is high risk.

    Does anyone understand how this works? My levels are:

    Hcg: 1.57 mom
    Papp a: 0.42 mom
    Nuchal fold: 1.69
    Age: 33

    This has been a difficult pregnancy so far with spotting and a vanishing twin (second sac is still there). I'm feeling very down about all this

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    Quote Originally Posted by meredithgrey View Post
    It's a 1 in 185 risk that your baby will have Down syndrome.

    Usually the doctors will offer invasive chromosomal testing such as an amniocentesis (amniotic fluid sampling) or CVS (placenta sampling) to look at your baby's genetics. This will confirm or exclude any chromosomal abnormalities.
    Thanks Merideth and happy Christmas! They've suggested a harmony test, but said my vanishing twin may affect the result. They've offered a cvs but said they'd prefer not to since I've been spotting so much. We'll go with the harmony and hope for the best. I was more wondering what the hormone levels actually mean and what level they are supposed to be!

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    I know how stressful this must be so firstly hugs! I usually just read along but I just went through a similar situation so wanted to share. We had 5 first tri scans due to my history so my OB noticed a thick Nuchal at 10+5. We decided to have verifi done straight away. It was a tough 10 days but bub got the all clear. We still had the NT+ the next day and so glad we already knew bub was fine as our risk was 1:73!! NT measured 2.9 so thick but not over 3.5 where they really worry.

    My bloods were similar to yours but PAPP-A not as low. My understanding is if your bub is fine chromosomally they will monitor as low PAPP-A can indicate placental issues or lead to IUGR later but not always. The bloods are a ratio so your hcg was 157% what they expected and your PAPP-A only 40% of what they expected.

    My bub got the all clear from our morph scan so no issues so far. I'd be positive in your situation that it's just bad bloods bringing up your risk and all will be fine. After 3 losses I've just started relaxing a bit but I always worry xx

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    Sally1981  (25-12-2014)

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    Default High risk for Down syndrome :(

    Sally, I thought nt scan couldn't be done with twins? I wonder if the other sac affects your bloods.

    Just big big hugs, I can imagine how stressful it would all be

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    Sally1981  (25-12-2014)

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    Quote Originally Posted by Sally1981 View Post
    Hi ladies, we had our NT+ yesterday, hoping for some good news for Christmas. Apparently there's a 1:185 chance of downs, which is high risk.

    Does anyone understand how this works? My levels are:

    Hcg: 1.57 mom
    Papp a: 0.42 mom
    Nuchal fold: 1.69
    Age: 33

    This has been a difficult pregnancy so far with spotting and a vanishing twin (second sac is still there). I'm feeling very down about all this
    Hi there, sorry for your stressful time. There is still a very very good chance that all is well. My stats were much worse pappa-a 0.29 downs risk 1:45. We opted for the harmony test. It tool 11 days for results and we were revised down to low risk 1:10,000. Although you might technically scrape into the high risk category, with your stats it's very very unlikely there is anything wrong, but I can totally understand your worry. Hopefully you can go ahead with the harmony and it's comes back with good numbers xxx

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    Sally1981  (25-12-2014)

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    Default High risk for Down syndrome :(

    Quote Originally Posted by bel2466 View Post
    Hi there, sorry for your stressful time. There is still a very very good chance that all is well. My stats were much worse pappa-a 0.29 downs risk 1:45. We opted for the harmony test. It tool 11 days for results and we were revised down to low risk 1:10,000. Although you might technically scrape into the high risk category, with your stats it's very very unlikely there is anything wrong, but I can totally understand your worry. Hopefully you can go ahead with the harmony and it's comes back with good numbers xxx
    Thank you for your response. Have you had any issues with the low Papp a? I've heard it can cause growth restriction etc, even if there's no chromosomal issue...
    @lilyloubelle - they said last week that I couldn't get a harmony because of the twin but now they're saying it's so small it shouldn't affect anything. I'm not sure if that's because it was a different specialist at the U.S. place this time, or because something has changed. Very confusing

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    Hi there

    I had a 1:20 risk for T21. Twenty three years old and my Pappa A was similar. Nuchal fold was much higher as was HcG. I also had a vanishing twin. My DS ended up not having T21. It was such an unnecessarily stressful time.The Nuchal translucency test gives off so many false positive readings and I decided that I wouldn't bother for my second pregnancy. I think you are on the right track with having the harmony test done. I can't give much advice on CVS/amnio as I didn't have one done but just wanted to offer a positive experience in high risk results.

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    Sally1981  (25-12-2014)

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    Quote Originally Posted by Sally1981 View Post
    Thank you for your response. Have you had any issues with the low Papp a? I've heard it can cause growth restriction etc, even if there's no chromosomal issue...
    @lilyloubelle - they said last week that I couldn't get a harmony because of the twin but now they're saying it's so small it shouldn't affect anything. I'm not sure if that's because it was a different specialist at the U.S. place this time, or because something has changed. Very confusing
    Not so far Sally , am 30 weeks and bub measuring 2 weeks ahead! OB thinks it's unlikely to cause issues but having a couple of extra growth scans just to be safe x

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    I had similarly low Papp-A and T21 risk ratio for DS. We opted to not have further testing as it wouldn't have changed our minds about continuing the pregnancy. I was seen by "high risk" doctors throughout the pregnancy and had extra monitoring but DS was born chromosomally "normal" and a whopping 4.68kg. Good luck, it's stressful. It helped me to think that if I had that pregnancy 185 times, only one of those babies may have Downs. It's really not "high risk" at all.

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    Quote Originally Posted by lilyloubelle View Post
    Sally, I thought nt scan couldn't be done with twins? I wonder if the other sac affects your bloods.

    Just big big hugs, I can imagine how stressful it would all be

    NT can be done with twins. Exactly the same process.


 

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