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  1. #1
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    Default A Newbie with Balanced Robertsonian Translocation :(

    Hi All,
    Im 30, have a 4 year old son who is fine.
    Have had 2 mc before him and 4 after.
    We started investigations this year with Westmead IVF to see why so many m/cs.
    Got my Karyotype bloods back and I have an apparently Balanced Robertsonian translocation involving the long arms of chromosomes 14 and 21. This could be reasons for miscarriages and Normal carriers of this translocation are at risk of chromosomally unbalanced offspring involving trisomy 14 or 21.
    My husbands results came back fine. We are seeing a genetic counsellor tomorow.

    Had a D&C and hysterogram, last week as there was some scar tissue at the cervix that needed to be removed.

    Because Westmead doesnt do Genetic testing of embryos, we now have an appoinmtment with IVF Australia in 2 weeks to discuss our options. I dont know much about IVF as such.

    Im at a loss. I really feel gutted. And alone! I have never heard of Balanced Robertsonian translocation.

    If anyone is in the same boat or can shed a little light, it would be much appreciated

    Eleash x

  2. #2
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    Hi Eleash,

    I'm brand new to all of this as well but wanted you to know you are not alone! My husband has a balanced translocation involving genes 7 and 17. We have just begun our first IVF cycle. Currently on injections and egg collection is this Friday. (scared out of my brain!)

    Keep in touch!
    Keryn

  3. #3
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    Hi keryn,
    Thanks for getting back to me.
    I know I'm not alone, it just feels that way.
    We saw the genetic counsellor today that said we only have a 1 in 6 chance of having a healthy baby. So we have decided to go ahead with our ivf consult. - but that isn't until the 18th June!!!!
    We are going to Genea and going to discuss PGD.

    Good luck with your cycle!!!! Did you u PGD?

  4. #4
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    If PGD is where cells from the embryos are sent to Melbourne for genetic testing- then yes that's the plan!!
    One day at a time at the moment... First have to harvest eggs! Then they have to fertilize!! So I'm just concentrating on Friday at the moment!!
    Your appointment will be here before you know it! The most time consuming part is fitting into the genetic testing time slots! We had to wait 4 months before starting a cycle.
    Xx

  5. #5
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    4 months!?!
    What was the process? Sorry for picking ur brain
    Are you in Sydney ?

  6. #6
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    I'm in rural QLD. We had to wait until there was a spare slot with the lab in Melbourne for the genetic testing. Apparently dr esler can only access the services of this lab 1 day a week. There was a considerable waiting list! He also only does egg collections on Fridays.
    I guess it's because he is the only dr in Queensland fertility group based in toowoomba.
    I hope you don't have to wait as long!!!


 

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