thread: HELP! question about downs syndrome..

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  1. #1
    Registered User

    Jan 2011
    ~~Off With The Fairies~~
    1,746

    HELP! question about downs syndrome..

    Hi ladies,

    Okay, my sister found out she is pregnant 2 weeks ago.
    She is 40 yrs old.
    Had 1st u/sound at 12 weeks. Where she was told nuchal fold looked great. She then went n had the blood test.
    Now, the Dr has told her results said 1:300
    And that she needs to have that amnio test thingy...

    However, from what I have quickly googled, 1:300 is the normal range.

    Can someone help me with this?

    My sister is in tears and I just want to be able to offer her some comfort and knowledge.

    Thanks ladies

  2. #2

    Jul 2009
    Australia
    5,102

    I honestly think she needs to either get a second opinion or question the Dr as to why he wants to do an amnio. i think her odds are pretty good for her age. If later in the pregnancy there are concerns then yes further testing should be done but for now i think its fine.

  3. #3
    Registered User

    Sep 2007
    Brisbane
    5,729

    I think 1 in 300 are GREAT odds. That is 299 in 300 chance of NOT having DS. In other words, a 99.667% chance that everything is OK.

  4. #4
    2014 BellyBelly RAK Recipient.

    Dec 2008
    Melbourne, VIC
    4,637

    Hun, 1 in 300 is great adds, I agree. My doc told me it's a bit of a worry if it's 1 in 50 or less. As long as the fold is good and the nasal bone is good, I think it's OK. I know of a couple of friends who were 40 + who elected to have the amnio because they were older. The chance of a m/c after an amnio is 1 to 2 percent from memory. I would weigh up all the bits and pieces and go with what you feel comfortable with. I had a pg at 38 and at 39, and I didn't elect for an amnio. I didn't want to risk a m/c. GL to your sis hun xo

  5. #5
    Registered User

    Apr 2010
    Brisbane, Australia
    1,385

    I would definitely get a second opinion. 1:300 is the lower end of normal range and there is a high chance of miscarriage with an amnio. For her age, this result is pretty good.

  6. #6
    Registered User

    Jan 2011
    ~~Off With The Fairies~~
    1,746

    omg you girls are AWESOME!

    I am sitting here with my sis now, and reading her what you girls are saying and she is feeling so much better!

    So, PLEASE if anyone else has awesome feedback keep it coming!

    The poor thing is so stressed, she is making ME tear up!

    Gah, this Dr is the one I go to as well, and the one I complain about. God! need to find another doctor and fast :|

  7. #7
    Registered User

    Oct 2008
    Newport, VIC
    1,885

    I agree with all the above.

    I suppose the other thing is she has an amnio and then what? A friend from Mothers Group had much, much lower numbers than that and elected not to have the amnio. Her view was that she was keeping the baby, downs or no downs. Her daughter was born with downs syndrome and she is the most beautiful girl I know.

    I second all the calls for a new doctor. Those numbers are nothing to panic about.

  8. #8
    Registered User

    Jan 2009
    pakenham, victoria
    3,660

    if it was 1 in 50 then yeh id say go the amnio, but 1 in 300 is only a small chance.
    Would the results of the amnio make your sister change her mind about the pregnancy (i know thats a horrible question, but one that needs to be asked) if the answer is no, then i definetly wouldnt get it done, and at the 20 week scan there'll be markers for downs should the baby have it, and if it does, she can reseaarch all she's going to need to know about the syndrome, and if there are no markers, then she can continue till 40 odd weeks without having to worry.
    Google search Kellie hamptons blog, she had a DS bub and didnt know beforehand, its a very heartwarming blog about her beautiful little girl