thread: First Trimester Tests?

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  1. #1
    Registered User

    Aug 2009
    Australia
    8

    First Trimester Tests?

    I found out I was pregnant a few days ago and was referred to this site by a friend.

    So now I was wondering if there are any tests that can be made during pregnancy that will tell me whether my baby has the disease "Huntington's Disease" if you've heard of that. Any advice on this would be greatly appreciated. =)
    Last edited by *Joanna*; August 14th, 2009 at 04:38 PM.

  2. #2
    Registered User

    Oct 2007
    Middle Victoria
    8,924

    Huntington's disease (HD) can be diagnosed prenatally through having a CVS or amniocentesis. If you are pregnant and you think your child has a chance of inheriting HD, you need to contact a genetic service as soon as possible to find out if testing is available to you, and discuss whether you want to go ahead with testing

    Major women's hospitals should have a genetics unit, or your GP should be able to refer you to one close to you.

    take care,

    kate

  3. #3
    Registered User

    Sep 2008
    Where the sun shines
    322

    Hi Joanna, I second Kate's view. I ended up seeing several geneticist's due to a chromosome problem with my first bubba and found all of them to be wonderful. As Kate said, major women's hospitals have them and I am sure they would be happy to see you to discuss a plan. I am going to a different hosp with this pg and was recommended to see their geneticist and form a plan, which was really helpful & reasurring. You can have a CVS from 12-wks & an amnio from 16-wks (I had both - unusual situation), results usually take 24-48 hrs for the main chromosomes they test, but you'd need to check for HD. I don't know much about HD, but it may be worth asking if there are any 'markers' that will show in the NT scan. All the very best.