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Thread: Please can someone help, down syndrone???

  1. #1

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    Default Please can someone help, down syndrone???

    Hi everyone, well i had my 12 weeks scan yesterday and we got to see little bub he was lying on his stomach and wouldnt move round i was doing star jumps and everthing but no he was more interested in sleeping...
    SO that went well then i got home and about tea time i got a call from my dr he already got my scan results back from the day. my blood test results were in too and something was not right. my chances of down syndrome is mean to be 1 to 1000 coz im 25yrs old, but the results came back 1 in 353 which he said he does not like it any lower than 350 if its on 350 and lower you are at high risk of down syndrome. so now we have to book into a specialist in melbourne and get my amniotic fluid tested where they put a needled into your belly button and take a sample of the fluid around the baby and the chance of m/c is half a percent. this is the one he had recommened. so we are going to do this i think.
    i am so scared what am i going to do, how do i know what to do i dont know what down syndrome is and what it is like to childen then adults. i guess i will be doing some studing today to find out our options. he also said its up to us if we went to continue with our pregnancy or terminate i cant even think properly at the moment.
    if anyone can give me some advise that would be great thanks so much. xxoo
    ps is there another site i could go into if other mothers have the same problem?


  2. #2

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    Hi Hun,

    I know the feeling of shock you are in. I was 25 last year when I was told my baby had a high risk of a chromosome problem too as her nuchal fluid was high. We decided to have CVS testing done, instead of an amnio (which is what you are having I think) as it can be done much earlier but gives the same info. I think I was told my risk was about 1/30. Anyways fast forward and had the cvs and lost of other specialist scans throughout the pregnancy and my daughter was born healthy!! The fluid had resolved b 19 weeks which the geneticist told us that if the CVS results came back fine and if the fluid had resolved by 20 weeks and if they couldn't see any other defects at the morphology scan at 19 weeks then we had a very good chance our baby would be fine.

    I really hope this is the case for you.
    Big hugs xox

  3. #3

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    hope it all goes ok

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    Hi hun, Im sorry you have some worry on your hands. With my last pgcy I had a 1 in 28 chance that my little girl would have DS. I opted for the cvs, which came back normal.
    This time due to my age etc, Im an oldie. I was given 1 in 408 chance of bubs having DS. This time I was told that my chances are low risk this time round, and they had advised against doing further testing as I would have to be very unlucky for bub to be the 1 out of the 408. So I havent done further testing this time, under there advise, especially when the risks of m/c with further testing is greater than what my risk is.
    I wish you all the best of luck, and hope that your little one is perfect. GL

  5. #5

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    It is lovely to see bub on the screen, even when he is having a sleepy day!

    Getting that phone call must have been a real shock for you. A risk of 1 in 353 is still pretty low odds that your bub will have down syndrome, it works out to about 0.28% chance. Diagnostic tests such as CVS or amniocentesis are not usually offered unless the risk is 1 in 200 or higher (if the second number is lower than 200). It is your choice if you want to have CVS or amnio, the dr can offer it or recommend it, but the decision is yours to make.

    You can also wait and have a later ultrasound where they can look for specific markers that can indicate your bub may have down syndrome. If they find one of these markers then you can decide whether you want to go ahead with having an amnio.

    Babies with down syndrome are pretty much like other babies. They sleep and wee and cry. And as they grow they smile and laugh and walk and talk. It can take a bit longer to learn things. A child with down syndrome will be more like you, your family and any brothers and sisters than other kids with down syndrome.

    take care of yourself today. there is no rush to make a decision on testing so just take your time.

  6. #6

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    Kate has given you some great advice already, but I might just add to it...

    My nephew has down syndrome - my brother and his wife found out when she was pregnant, but they decided against termination. He is now 9 yrs old, and is a delightful child. He attends a regular primary school and although he is a little behind, he is reading and writing and has great speech. People with downs can lead a very fulfilling life - with independance, employment etc...

    I see you are in Melbourne - there is a great organisation there called Yooralla (sp?) - I'm sure they'd be happy to speak to you. They have a fabulous documentary called "Dance Like Nobody's Watching" - if you can get your hands on that might help you to understand down syndrome a bit better.

    BUT - you dont even know if your little one has DS yet!! You dont have to have any of the tests your Dr is offering, so make sure youre only doing them if you want to. All the best with everything

  7. #7

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    just wondering how you things are going for you now.

    take care,

    Kate

  8. #8

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    Thanks to everyone for replying, nothing much has been happening just been doing alot of research about downs and what is going to happen if our little bub has downs. still abit shocked about the whole thing but i think i am starting to get my head around it.
    take care xxoo

  9. #9

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    A friend of mine had a 1 in 10 risk of DS, as you can imagine she was pretty panicked but she had the Amnio and everything was fine so you could easily be too with that risk.
    My risk with my last pg after the nuchal tests etc was 1:850 and the ob wanted me to have an amnio. I asked him the risk of losing a healthy pg because of an amnio and he said 1:400, I said I know which risk I would rather take thanks!

    You need to weigh up the risks of whatever you decide to do and also make an informed decision about what you would do if it came back positive for downs.

  10. #10

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    Like everyone else has said, the odds are still pretty low so there is a very strong possibility that your precious little baby will be just fine.

    for what its worth though my nephew has downs, they didn't even know he had it until he was almost 12 months old! He is now almost 2 and walking, running and playing like any other 2yo boy, his main delay is with speech but they have been told this will come in time and it's nothing worth stressing about at this stage.

    I understand this must be a very scary time but try to relax and enjoy your pregnancy.

    best of luck with everything!

    Fi

  11. #11
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    i had my Nuchal Scan and thought nothing of it, then got a scarey phone call from the hospital, telling me, "you have to come in immed for an emergency amnio" - because i had a 1 in 6 chance of having a baby with Downs Syndrome. I was over 35 at time of conception. ANyhoo, i had the amnio, stupid specialist consulted me beforehand, saying he WOULD use an local anasethetic, but when he actually did the procedure, he DIDN"T use the local anasethetic afterall (without saying anything to me), so i was in ALOT of pain (screaming). So my advice is, IF you do have the amnio, DO INSIST on the anesethetic. I had five days of cramps after the procedure.

    after all that. two weeks of the longest waiting (so it seemed at the time).
    no one rang me with results
    i went into the hospital
    "You can't have the results, that specialist is on holidays"
    i am virtually in tears at that point, so anxious to find out
    random nurse takes pity on me, goes and rustles up the results
    ALL CLEAR

    turned out Nuchal Scan test was innaccurately taken or something like that.

    so all that stress for nothing.

    had a healthy baby.

    my risk was one in six
    there is a risk associated with the CVS test
    there is a risk associated with the amnio

    i feel for you, i felt so anxious at the time, i coudln't even think straight to read brochures etc about the risks.

    best of luck with whatever you decide to do. i would speak to a few medical people, get a few opinions. Make sure you understand the percentages - i found that so confusing. Actually someone who was really good at maths, helped me "get" that. they put it differently than the medicos did. less scary.

  12. #12

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    My Angels - I tend to do a lot of reading when I get worried. sometimes it helps and sometimes it just winds me up even more. Having a baby has all sorts of risks but also has great odds that everything will be OK and sounds like you are being a real Mum already... concerned right from the start. Did you decide to have CVS or amnio?

  13. #13

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    Hi everyone, i have decided to go ahead with the amnio im booked in 2 weeks so i am just waiting and worrying. i have been doing looks of study on ds and if there are not big problems like bubs has whole in heart and wont last very long we are going to go ahead with pregnancy. i think one way then i go the other its just so hard knowing what is the right thing to do.
    with the amnio how painful is it and how long do u need off work?
    thanks to everyone it helps people giving me advise and just understanding what is happening. xxoo

  14. #14

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    Wishing you all the very best with your amnio. For myself the amnio did not hurt at all, you will just need to rest for a couple of days.

    Regards,
    Dianne
    Emmanuel born sleeping @24wks
    Trisomy 13

  15. #15

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    Just wondering how you going. Not sure if any posts were lost. Hope all is well.

  16. #16

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    Sorry it has taken so long to reply have not had the internet for a week. results came back all clear so that is great and just had a scan today and bubs is going along well about 18w. cant wait to get the 20w scan done and hopefully we can try and relax and enjoy being pregnant.
    thanks to everyone for the information and support, xxoo

  17. #17

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    So happy to hear your great news.

    Regards,
    Dianne

  18. #18

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    Great news. All the best for the rest of your pregnancy!

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