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  1. #1
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    Default High Risk for Trisomy 21

    Hi

    We are pregnant with our first baby, due
    Jan 5th 2014. Had our first trimester scan a couple of weeks ago, all was looking good theoughoutthe scan according to the sonographer, except the NT came up at 3.10mm.

    Together with my age and blood test it calculated our estimated risk is 1:18 for T21. Initially we were shocked and had a little cry. We have an amnio booked in next week, as we would like to know if it is confirmed then we can prepare ourselves, but im now having second thoughts about whether to do it as either way we are going to continue with the pregnancy.

    Looking for others who may be in a similar situation. I also dont know anyone who has had an amnio so any experiences of that would be helpful also.

  2. #2
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    (((Hugs)))
    I can't offer first hand experience, but like you, we knew we would continue with our pregnancies regardless of test results so we chose not to go ahead with any tests. For us that also included declining the nt scan so we didnt have the initial high risk result you've already been given. I can imagine it would be hard not to proceed with further testing once you've been given that result.
    But, if you know you'll go ahead with the pregnancy, then keep that in the forefront of your mind and make sure your OB etc know that's your firm decision so that the alternative options aren't put forward too persistently.

    I'm sure there will be plenty of people on here who can offer you first hand advice, but I just wanted to send you some hugs and wish you all the best, whatever the outcome.

  3. #3
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    I had a amnio back in march due to my score but it ended up being a small femur bone that gave him the score i am now 37 weeks and everything fine

  4. The Following User Says Thank You to Sarahblayke For This Useful Post:

    JanuaryBlueberry  (12-07-2013)

  5. #4
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    Thanks guys, i wish i had never had the NT scan, would have saved a lot of heartache! Ive just been told of a special blood test that can also be done, but is very expensive.

  6. The Following User Says Thank You to JanuaryBlueberry For This Useful Post:

    PurplePurpleCat  (12-07-2013)

  7. #5
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    Sarahblake - How long did your amnio take? Did it cause you any pain/discomfort? Any problems afterwards?

  8. #6
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    Hi Jan Blue, huge hugs for you xxx I had an amnio done a few weeks ago due to high risk downs 1:69. it only took a few minutes but was uncomfortable and I did feel pain but grin and bear it. Unfortunately my sample had blood in it so it took 2 weeks for the results. Then I got bad results and sadly we decided to terminate at 18.3 weeks, last Friday. it was such a horrible thing to go through. when I first got the initial 12 week results I was like, we are keeping the baby no matter what, and didn't give it much thought until it was confirmed then straight away I knew I didn't want to go through with it. I guess I was worried about the severity of downs and physical problems and my ob said it may even die in utero I have a 20 month old and was worried about his future too. Plus I didn't want to give up work so I guess my decision was selfish. I have no regrets, just sadness that things didn't turn out well. I cant bear to tell my friends/colleagues the truth which also hurts. If your 100% certain your keeping the baby then I wouldn't bother with the amnio. I hope it all goes well for you xxx

  9. #7
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    Hugs xx I do wonder more and more about why we even bother doing nuchal/triple screening when it comes down to it. So many people like you are put in difficult situations like these. Medical professionals often will push people into these extra tests, including amnio etc to follow but at the end of the day, there are so many possible outcomes for babies born, with Trisomy 21 or not that you can never predict an outcome. One benefit of knowing whether your baby does have T21 is that some families like to be prepared in advance ie have the supports and knowledge ahead of time. Plus you can get a realistic view of what T21 actually is, most people's views (including obstetricians unfortunately) are so outdated. Check out http://downsyndromepregnancy.org/ it is a great website even if it is American! I know of a facebook group for support too if you are interested which is Australian. Good luck with your decision, but no matter what the outcome is you will have a child to adore and who will adore you!

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    JanuaryBlueberry  (12-07-2013)

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    Personally, I would still do the amnio. As you have decided to keep the baby, this will give you an indication of the severity if T21 (if there at all) and give you time to adjust your lives and prepare. Wishing you all the best. Remember, there is still a chance that your baby is fine.

  12. #9
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    I had an amnio done a few weeks ago, personally I didn't feel any pain or discomfort apart from the slight sting of the needle going in. It was all over in a few minutes.
    I was just worried about keeping still but I just looked at the ceiling and focused on my breathing and was fine.
    Had slight cramps afterwards, like very mild period pain but only for a few hours.
    Not a nice situation for you to be in, hope it all turns out ok.

  13. #10
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    Actually an amnio will not determine "severity" of T21, there is no such thing. It can only say yes there or not. Just like there is no severity of female or male chromosomes, just is or isn't. If you are referring to mosaicism, that again does not mean that a person will be more or less affected by the extra genetic material necessarily. And her baby is still "fine" regardless of genetics.

  14. The Following 3 Users Say Thank You to charmamma For This Useful Post:

    Fox in Sox  (12-07-2013),JanuaryBlueberry  (12-07-2013),Jellyfishie  (12-07-2013)


 

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