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Balanced Translocation
Successful Conception (either naturally or assisted) is it possible??


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#1 WarriorWoman

Posted 02 December 2010 - 08:54 PM

Hi,

I am asking on behalf of a friend who has just found out she has a Balanced Translocation and who has been TTC for a while now. Is there anyone in EB land who has this condition or knows of someone with this condition who has had success conceiving?

I am just about to go and do a bit of online research as I am not too sure what it actually is, but she is looking for some info and I thought that this would be a good place to start. I have advised that she sign up herself, but I also hope to be able to offer her some immediate support and this is where you all come in.

I may have posted this in the wrong section, if so, sorry. I would appreciate any info from anyone.

#2 sebela

Posted 02 December 2010 - 08:58 PM

Julia has three kids now - but had a LONG battle with her DHs balanced translocation. Read the archives of her blog:

http://julia.typepad.com/julia/

#3 rosiec

Posted 02 December 2010 - 09:03 PM

Hi .

I have a balanced translocation.  Didn't find out until after I had conceived my son (first attempt) and then had 4 miscarriages before testing.  After testing I went on to have another 5 miscarriages before using IVF and PGD to conceive our DD.

If she is wanting some info, there is a PGD thread in the AC Buddy Groups section. It had been quiet for a while but there is some activity in there again.

I wish your friend well.

Edited by rosiec, 02 December 2010 - 09:12 PM.


#4 emc002

Posted 02 December 2010 - 09:04 PM

My Brother and SIL had this problem.

My brother has the balanced translocation but his sperm are unbalanced.  Wikipedia has the best articles about that side of things.  Basically the person has a balanced translocation and they are a surviving person, but the reproduction side makes them infertile, basically.

I think they may have conceived naturally, one time?  Then they had numerous rounds of IVF, before SIL requested further testing for both of them, which at the time, everyone was advising her was unnecessary.  Poor SIL had loads of miscarriages before or around 6 weeks, through some of these.

I think there was some little prob with SIL eggs, but it was my brother with the main prob as above.

Then they did quite a few PGD rounds, which is kind of like the technology used in the movie Gattaca, and the embryos got sent to Melbourne for screening.

Then they decided to pursue adoption, but then the country's waiting list which they'd just got onto, closed.

They then decided to go back to IVF this year, and using donor sperm.

Well, I will be an Auntie in January!!  She is 32 weeks.

So unfortunately, imho, maybe your friend could look at the donor egg side of things, to somehow get on the waiting list for that, before doing PGD.

However I'm sure someone else here has more experience with it all.

#5 niksia

Posted 02 December 2010 - 09:10 PM

We didn't end up having this thankfully, but were tested after our 2nd or 3rd miscarriage. Basically instead of having 2 sets of chronological chromosomes. In this case one or several are mixed up but still have 2 complete sets, so everything works normally. ie i set has 2 x #8 but no #5 the other set has 2 x #5 but no #8.

The implication for pregnancy is that each parent contributes a set of chromosomes. So if the one with defective (for want of a better word) chromosomes puts across the first set the baby would have 3 x #8  and 1 x #5. Therefore incompatible with life (gee I hate that term) and would miscarry.

We went through recurrent miscarriages all with major chromosomal mixups.

I believe IVF with genetic testing may be an option, but I could be wrong, it has been a while since I looked into it after the possibility was ruled out

#6 WarriorWoman

Posted 02 December 2010 - 09:14 PM

Thanks to those who have replied so far. Please keep the replies coming. I have sent my friend a link to this thread. It is nice to see there is hope out there and all is not lost.

#7 Angelina Ballerina

Posted 03 December 2010 - 10:31 AM

Just looked it up in my old genetics textbook. If a parent has a balanced translocation there is a 1 in 6 chance that the conceived fetus will be genetically normal, a 1 in 6 chance that the fetus will carry a balanced translocation (like mum) and 50% chance of abnormal genetic combinations that are unviable (depending on the translocation may be a 1 in 6 chance of live birth with genetic abnormality eg Down syndrome)

#8 AnZ

Posted 03 December 2010 - 10:44 AM

I have no information to contribute but I just want to say good luck to your friend I hope that everything works out for her and hope to hear good news on her in the near future.

#9 Kylie : )

Posted 22 November 2012 - 04:11 AM

Hi, I am 35 and have a balanced translocation 13:15 we were successful after our first attempt at IVF ICSI. Our son is also a balanced translcation like me. I am currently 3.5 months pregnant (fell naturally) and second baby is also a balanced translocation like me. Good luck and stay positive it can happen!  original.gif

#10 iwanttosleepin

Posted 22 November 2012 - 04:32 AM

My friend has a balanced translocation.  She has 2 children.

The oldest has an unbalanced translocation and major issues.  She has a moderate/severe intellectual disability and quite a few physical issues including low muscle tone, facial features, hearing loss, short stature etc.

Her younger son has a balanced translocation and no issues whatsover.

She had no issues getting pregnant.

Her sister has had recurrent miscarriages but has had 2 healthy children.  I don't think she has been genetically tested.

The child with a disability was part of a research thesis so a lot of time was spent finding the genetic issue and where it came from.

#11 c_shell

Posted 26 November 2012 - 05:12 AM

Please tell your friend to be careful and seek advice - yes you can conceive naturally with a balanced translocation but you have a larger risk for having a child with chromosome deletions and big issues. It would be wise to inform yourself about these risks.  I'm sorry to mention this.
Simply put, each chromosom has 2 arms and these arms can be swapped (translocate) between chromosomes. When someone with a translocation has children, they can pass the translocation onto their child, or the tranlsocation can result in extra or missing genetic material on one or more of the chromosome arms. These are probably the fetuses with chromosomal problems that are misscarried. Someone with a translocation can have some medical issues themselves, duplications also results in some issues and deletions generally alot more.

My DD has a significant chromosome deletion and she's one of the lucky ones whos mostly ok (short statured, some blood problems at birth), but I read every day in a facebook group for children with unusual chromosome deletions - nearly all of these children have global development delays and a range of health issues. DD's case is actually spontaneous (neither DH nor I have any unusual chromosomes), but many of the cases I know of come from parents with translocaitons.  

Try www.rarechromo.org  - this is a non-profit foundation for people with rare chromosome diagnoses . There is lots of excellent information about unusual chromosome issues. They might be able to help you more with actual numbers regarding what the risks are and put you in contact with people with similar diagnoses. I really hope things work out for you..  

"The effects of rare chromosomal disorders can be very varied. The vast majority of carriers of balanced rearrangements will have no symptoms but might have problems in reproduction.  "


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