Results 1 to 4 of 4

Thread: balanced translocation....anyone??

  1. #1

    Join Date
    Aug 2007
    Location
    adelaide
    Posts
    1,989

    Default balanced translocation....anyone??

    I had known for quite some time that dp's extended family (maternal side) had some kind of genetic thing that caused miscarriage..
    I know that his grandma had it (8 kids, 8 miscarriages) and most of her daughters and sons have it (aunties and uncles) they were all given a blood test to find out.
    But DP's mum wasn't tested (out of the family loop at the time) so none of Dp's immediate family have been either.
    They've recently all been in contact again and as DP's sister (SIL) is looking to ttc soon she has been asking the questions.

    So the thing they have is called "balanced translocation" from the info I can find it is when 2 bits of genetic stuff swap places, in a "balanced" way, in this case it is 6 and 11. It is harmless for the carrier, but can cause problems when ttc, as it can cause other genetic problems in the embryo which result in miscarriage.

    Dp is reluctant to get tested. (he feels I would blame him for the miscarriages) I was all for it but after doing some more research, I dont really think it necessary either, even if he is a carrier there is nothing we can do about it unless we want to fork out heaps of $$ for PGD, which basically we just dont have.

    but I am kinda in two minds about it, on one hand I'd like to know if I should expect to miscarry again and again....(already have two blighted ovums and countless "chemical" pregnancies that I don't even really acknowledge because its just too much to deal with)
    I'd also like to know that its NOT because of some genetic thing and is just....what it is....IYKWIM?

    Urghhh... so conflicted...

    Anyone else have any knowledge of this issue?

  2. #2

    Join Date
    Jan 2012
    Location
    Western Suburbs Melbourne
    Posts
    651

    Default balanced translocation....anyone??

    I don't have any experiences directly with this type of genetic issue. However I have had 2 blighted ovums, it has been explained to me that BO's don't develop due to hormone imbalances. (I have thyroid issue) At the stage of development the amount if hormones required aren't produced which results in the embryo not developing.
    So technically no genetic information created.

    Apparently if your family has been genetically tested before, it may cost less for other family members - this is in VIC from what I have been told by Melbourne Genetics. (My DH family has heart issues)

    Good luck on your journey.

  3. #3

    Join Date
    Aug 2007
    Location
    adelaide
    Posts
    1,989

    Default

    Thank you MLR, that is interesting (about the Bo's)....maybe something I should mention and follow up with at my next docs appt...

  4. #4

    Join Date
    Jun 2008
    Location
    In snuggle land
    Posts
    4,499

    Default

    I know a few people who have been dealing with balanced translocations whilst TTC. I'm not sure what the odds of a successful pregnancy are. I'm pretty sure it's 25% normal, 25% balanced translocation and 50% unbalanced translocation (which would end in mc). That would be something to talk to a geneticist about.

    A genetic defect isn't anyone's "fault", it's just the roll of the dice. I'd want to know either way, so as to understand the likelihood of successful conception. Whilst there is the option of IVF/PGD, it is expensive and you're then dealing with the risks of IVF (egg harvest, fertilisation, PGD testing etc.) One option is a CVS, but I think most unbalanced translocations miscarry before then.



    Maybe ask in the IVF PGD thread for experiences.

    As for blighted ovums, there are a number of reasons they occur including damage to egg, sperm and the initial blastocyst.

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
  •