Balanced Robertsonian Translocation (14;15)

[sweetpea2081]

tI am hoping that someone on here can shed a little light onto our situation. I have to write all of this out because i am clueless when it comes to all the acronyms on this site! In any case, we have been going through fertility treatments and in vitro for a little over a year without any success. They finally did genetic testing on my husband (why this doesn't happen in the beginning i don't know) Well the results came back with a rare abnormality in his test results. It is a Robertsonian Balanced Translocation of the 14th and 15th chromosome. i can find tons of information aboutother chromosome combos - but anything with this combo says that it's very rare, and they haven't had an opportunity to do sufficient reseach. Has anyone heard about this? Our appointment with the Dr. isn't until Monday with the fertility specialist - and the geneticist can't see us until later next week. any information would be extremely helpful. thank you in advance for ANYTHING you think might help us.

[Brown Eyed Girl]

I have a Robertsonian Translocation also. I got it from my mom. My brother also has it. My brother didn't have any issues. He has a normal daughter. My DH (dear husband) and I weren't that lucky. We have been trying for 9 years naturally which resulted in many MCs (miscarriages) & DNCs. I learned about PGD (PreImplantation Genetic Diagnosis) so I am in my first IVF cycle and will use PGD to diagnosis chromosome abnormalities so we can implant balanced & normal embreyos. According to the research that I have come across, this translocation affects the female more so than the male. Statistically, men have better odds than women with this issue. Check out the Help/FAQ link to get a list of acronyms/abbreviations for their definitions. It really helped me!

[sweetpea2081]

thank you! i will have to visit that page - because you would laugh at my guesses! i actually read your post - good luck to you - you deserve it! we have been doing this for a little over a year, and it has been ROUGH. i can't imagine what you have been through. Do you know the chromosomes that are translocated for you? i have read a lot on the common ones, and there is a lot of information there. Just not with 14 and 15 being flipped. from what i read there are a lot of disorders that involve these chromosomes...i am not very patient - and Monday seems like a lifetime away!

[barbiesthoughts]

Most balanced translocations are very rare. You would be lucky to find anyone else with a translocation on the same choromosomes or if they do, with the same breakpoints that you have.

That's why any statistics you are given will be very dicey. I've heard so many different ones from different geneticists.

Best of luck

[sweetpea2081]

Thank you - we actually met with the geneticist last week. Apparently this combo is very rare, she didn't even have information in her books about it. (we joked about offering research on us for the cost of the PGD!) In any case, they would be able to do PGD and test the fertilized eggs to see if any would be viable for life. We have decided that at this point in our lives, we just want a baby, and it doesn't matter if its biologically our baby. we'll go forward with PGD once we have adopted out little girl. we figured this way no matter what the outcome of the next IVF/PGD cycle we would have a little princess at home to be thankful for. thanks to everyone that took the time to respond to this thread. if you have a similar situation, know that there are options...which is great for us in the future. Good luck to everyone here!

[Brown Eyed Girl]

I just thought I'd update you on my progress. I finished the IVF process. Through PGD 2 embies were labeled as normal. 2 were transferred; a boy and a girl. I had my 1st BETA on 3/25 and it was 113, pregnant! I had my 2nd BETA today and it was 280, still pregnant! I go in for my first ultrasound next Thurs, 4/2. My DH & I are caustiously optimistic. Good luck with your adoption!

[Bostonian]

My husband has a balanced Robertsonian Translocation T(14;15) as well. It was diagnosed by the team at MGH (Mass General Hospital) here in Boston.

After 2 IVF cycles with PGD (with 2 embryos transferred each time), we finally got pregnant... 9 months later, our little girl was born (November 2007). We DID have an amniocentesis at 18 weeks to confirm that the baby's karyotype was either normal or balanced, and to rule out any trisomy as well as UPD (Uniparental Disomy). Our little girl inherited her father's translocation. She is thriving and a really happy and healthy baby.

Good luck to both of you.

[CdnMom]

I have a balanced translocation of 1&2 but was not informed if it was a Robertsonian or where the break was and or how large. I have 2 children that were naturally conceived. Good luck to you all on your long and hard journey to parenthood, it's an emotionally, physically and well worth it regardless of how you get to your goal in the end.

Brown Eyed Girl any update on your u/s last week?

[sweetpea2081]

thank you to everyone that has taken the time to respond to my post. I can't believe what sweet people are out there and so nice to share their information with us. My husband and i have made the decision to adopt for now. the cost of PGD was unbelievable - and no guarantees that we would even have eggs to put back. so we thought it would be best to get a little one here as soon as we can. thanks again for all the encouragement. this has really been helpful for us knowing that there are other people out there that have had success in our situation. thanks again...

[Brown Eyed Girl]

Thanks to everyone who asked about my progress. My 1st u/s went really well. There is one gestational sac. My Beta was 5,014 and my progesterone was 39.4. Both numbers are really good for this point in the process. I have my 2nd u/s on Thursday, 4/10. I'm a little nervous because I've had some spotting. I really hope my numbers still go up. Everytime I've had spotting in the past it has led to a m/c so I always think the worst.

SweetPea: I'm so excited for you! Good luck with the adoption process.

CdnMom: Thanks so much for asking about me. I should have posted a reply by now, but I've been nauseous & very tired. Today neither symptoms are present which also makes me nervous. I'll let you know how the 2nd u/s goes.

Take care everyone!