OMG I just found out I have a balanced translocation (??) of chromosome 10

[hibiscus07]

...which is why I've had 2 miscarriages. I can't freaking believe it.
My Nurse Practitioner said this is only the 2nd time she's seen it in her 15 yr career.

The other patient she had with it kept trying to get pregnant until one just stuck, total crapshoot. It worked but that's a lot to go through. Especially if a screwed-up embryo sticks and I end up needing a late-term abortion. Seems risky. I could do that, or we could go the IVF route and do pre-implantation genetic testing. Either way, we're going to a genetic counselor now. Sweet lord...

It's super rare and, of course, it has to be me that has it. This sucks. But at least I know it wasn't anything I did or didn't do to cause the MCs.

Is there anyone else here that has anecdotal success stories of people dealing with this??
Thanks, gals...

 

[x_Rainbow_x]

Its not that rare you no... i have a BT of 22 which is now attached to 2.. im going down the PGD route. Youl need to see a genetics counseller which will assess your case and see if PGD can help you ( as some places havent seen certain translocations) then theyl ask you what you want to do explain it all, tell you your % and then refer you to a clinic...

also the chances of a bad one sticking is unlikely as they end in miscarriage.. the translocation can get passed on but as long as everything is there it wont cause a problem but you could experiance 30 before it happens where PGD finds the egg

 

[brumbar]

Wow... I had to google it to figure out what you're on about....Hope next one is lucky! X

 

[XxXBubsXxX]

My hubby has a balanced translocation of the 13/14 chromasones. We have had a few mc's and we have a healthy 3 year old. Im now 8 weeks preg and awaiting cvs testing with this one at 11-13 weeks. For us the chance of patau syndrome is 25%, a carrier 50% and a child with neither is 25%, my daughter was in the 25% and is not a carrier and has healthy chromasones. It took us 2 years to get pregnant the 1st time, to loose it at 13 weeks, we didnt have the baby tested to see if it died of this as if it didnt we would have been paranoid that the next one would have it. I think you can have some sort of ivf but for us this wasnt an option becos of the finantial situation so we have just tried to get preg and if i mc then it most prob was poorley. We are lucky to have out daughter so know we are ok getting preg and carrying to term, its just that first bit upto the cvs test. If you want o chat etc private message me. x

 

[x_Rainbow_x]

My hubby has a balanced translocation of the 13/14 chromasones. We have had a few mc's and we have a healthy 3 year old. Im now 8 weeks preg and awaiting cvs testing with this one at 11-13 weeks. For us the chance of patau syndrome is 25%, a carrier 50% and a child with neither is 25%, my daughter was in the 25% and is not a carrier and has healthy chromasones. It took us 2 years to get pregnant the 1st time, to loose it at 13 weeks, we didnt have the baby tested to see if it died of this as if it didnt we would have been paranoid that the next one would have it. I think you can have some sort of ivf but for us this wasnt an option becos of the finantial situation so we have just tried to get preg and if i mc then it most prob was poorley. We are lucky to have out daughter so know we are ok getting preg and carrying to term, its just that first bit upto the cvs test. If you want o chat etc private message me. x

i was strongly advised against TTC without help.. shows how diff dr's can be doesnt it.

 

[XxXBubsXxX]

Apparently it does depend on who is the carrier, my sis in law also cariers the translocation and past it on and had a child with patau syndrome last year who passed away shortly after birth but chose not to be tested at all so didnt know he had it. We respect that but we would always choose the cvs testing, we cant afford ivf and the doctors have never told us not to ttc without help. Doctors are different whereever you are, when we have had mcs, the hos have said wait 6 months and the docs 1 month so who knows!!!

 

[hibiscus07]

My hubby has a balanced translocation of the 13/14 chromasones. We have had a few mc's and we have a healthy 3 year old. Im now 8 weeks preg and awaiting cvs testing with this one at 11-13 weeks. For us the chance of patau syndrome is 25%, a carrier 50% and a child with neither is 25%, my daughter was in the 25% and is not a carrier and has healthy chromasones. It took us 2 years to get pregnant the 1st time, to loose it at 13 weeks, we didnt have the baby tested to see if it died of this as if it didnt we would have been paranoid that the next one would have it. I think you can have some sort of ivf but for us this wasnt an option becos of the finantial situation so we have just tried to get preg and if i mc then it most prob was poorley. We are lucky to have out daughter so know we are ok getting preg and carrying to term, its just that first bit upto the cvs test. If you want o chat etc private message me. x

Thanks for all that info. I'm just starting to read about all this today. Still kind of in shock. We'll have to see what the genetics person says to do, but if there's no risk of carrying a screwy embryo to term, I think we might also try the route of just to keep trying until a good one sticks. We certainly can't afford IVF either. My insurance doesn't cover it, but apparently I can get a supplemental insurance in Massachusetts that will cover it. I'd rather not go down that route, if we can help it though.
Thanks

 

[x_Rainbow_x]

Im the carrier and i was told the chances of problems if you ever catch a egg on your own was practically nil and if it does have a severe problem then its more likely to a freak accident than something inherited. BUT you have to catch that egg.. I think if the woman carries it, its harder as theres only one egg with sperm theres loads.. Iv studied this untill iv gone mad.. had a year to let it sink in, im having NHS funded treatment for mine as my translocation stops the heart and growth at same time every time..

 

[XxXBubsXxX]

Yep we were told it effects the female carrier worse too. My sis in law who is also a carrier has two healthy girls, one not a carrier and the other she doesnt know and she lost one when he was 3 days old. Theres always hope. We have a fairly common translocation. i think its one of the top 3 most common after down syndrome (trisomy21) and i think edwards syndrome (trisomy 18) is under patau syndrome (trisomy 13). I wish luck to anyone with these horrible things, they are a cloud lingering over our heads. x

 

[x_Rainbow_x]

dont i no it.. ask any of the girls on here what iv been threw in the last year and half.. kinda drags out over here you see..

 

[XxXBubsXxX]

Im pretty new to this site tracie87 so i dont know your story but believe me i wish you all the luck in the world and anyone else with these f-ing horrible translocations. When i was tested wit hmy daughter and the results were a female with normal chromasones i was so paranoid they had not taken a piece of her placenta and had instead taken a part of me as in VERY rare cases it happens, i bought nothing for her and she came early (typical). I tell you what i hate... people keep asking me why she is 4 in april and we dont have anymore kids, if i was to sit down and tell them out problems everytime someone asks i would NEVER get anything done, people just expect people to have loads of kids one after another but its not that simple. I tell you one thing thou... you guys will love them long awaited children more than anything and wont take them for granted like alot of people do. You will cherish them every minute of the day and when you are tired and they are winding you up and you want to shout you will think back to all the time you longed for them and that impatience will dissolve. x

 

[Meli]

Hi there... I know it is difficult to hear the news of a chromossome abnormality... My DH has an inversion, which is a bit different from translocation. We have been TTC since Jan 08, with one mc in June 08 and possibly another in Jan 09. We are going for PGD. I am in the US and the only clinic that would be able to offer us PGD is one in Chicago, Reproductive Genetics Institue (RGI). That's because PGD for inversion requires more technology than for translocation. PGD was actually developed in their labs. You can get a free consultation with their genetic counselers over the phone. For female translacation they can test the polar body of the egg, so even before fertilization they already know whether the egg carries the translocation or not.

Hugs!

 

[hibiscus07]

Hi there... I know it is difficult to hear the news of a chromossome abnormality... My DH has an inversion, which is a bit different from translocation. We have been TTC since Jan 08, with one mc in June 08 and possibly another in Jan 09. We are going for PGD. I am in the US and the only clinic that would be able to offer us PGD is one in Chicago, Reproductive Genetics Institue (RGI). That's because PGD for inversion requires more technology than for translocation. PGD was actually developed in their labs. You can get a free consultation with their genetic counselers over the phone. For female translacation they can test the polar body of the egg, so even before fertilization they already know whether the egg carries the translocation or not.

Hugs!

Actually, my nurse practitioner was using interchangeable terminology, but she said specifically that we have a pericentric inversion of Chromosome 10. I haven't been able to find any information at all about this particular issue wrt Chromosome #10.

 

[Jane1972]

...which is why I've had 2 miscarriages. I can't freaking believe it.
My Nurse Practitioner said this is only the 2nd time she's seen it in her 15 yr career.

The other patient she had with it kept trying to get pregnant until one just stuck, total crapshoot. It worked but that's a lot to go through. Especially if a screwed-up embryo sticks and I end up needing a late-term abortion. Seems risky. I could do that, or we could go the IVF route and do pre-implantation genetic testing. Either way, we're going to a genetic counselor now. Sweet lord...

It's super rare and, of course, it has to be me that has it. This sucks. But at least I know it wasn't anything I did or didn't do to cause the MCs.

Is there anyone else here that has anecdotal success stories of people dealing with this??
Thanks, gals...

Hi
Sorry to hear your news but please don't feel alone.
I also have a balanced translocation (4/11) as has my brother. I think different translocations have different complications. Ours was at 1st explained as 25% = M/C
25%= Severe Disability
25%= Normal
25% = With Balanced translocation.
But then they said as it was quite a big chunk of info the chance of having a baby with severe disability were slim as would M/C.
This was all explained with pictures which made it easier to understand, if you would like more info I can scan the pictures next week when I'm at work.
Both my SIL & I have had several M/C but she had a lovely boy 4 years ago naturally & I'm having PGD at the moment.
So its not the end of your dream just a little diversion on your way.
If you need to chat please feel free to PM me.
TC Jane

 

[Meli]

if the nurse said you have a pericentric inversion of chromossome 10, then that is different than a translocation. The main implication from an inversion vs. a translocation is that it more unlikely for an individual with inversion to give birth to a baby that has unbalanced chromosome, than it is for an individual with translocation. The other difference is that most places do PGD for translocation, but not inversion. Like I said in my previous post, only RGI in Chicago had the technology to do PGD for inversion (I looked in 2 other labs).

There is this genetics book that talks about inversion (pages 242-244)

https://books.google.com/books?id=8...=result&resnum=1#v=onepage&q=inversion&f=true

 

[hibiscus07]

if the nurse said you have a pericentric inversion of chromossome 10, then that is different than a translocation. The main implication from an inversion vs. a translocation is that it more unlikely for an individual with inversion to give birth to a baby that has unbalanced chromosome, than it is for an individual with translocation. The other difference is that most places do PGD for translocation, but not inversion. Like I said in my previous post, only RGI in Chicago had the technology to do PGD for inversion (I looked in 2 other labs).

There is this genetics book that talks about inversion (pages 242-244)

https://books.google.com/books?id=8...=result&resnum=1#v=onepage&q=inversion&f=true

I've found some really interesting info today.
She just faxed me the full result and it's a pericentric inversion of chromosome 10 w (p11.2q21.2), which is apparently widely recognized as common in people on Northern European descent with no apparent associated reproductive issues or defects. There are two papers available that suggest it is completely innocuous (keeping my fingers crossed!). Here's one (i had to purchase it, but the abstract is free): https://www.springerlink.com/content/kywpcw2qdpyjk9d1/

So, it's possible my two MCs were total coincidene (or I have another issue..ugh).

We'll see what the genetics counselor says. Thank you very much for the information!

 

[Jane1972]

Forgot to say I was the one with the translocation & I felt really guilty esp after the 1st M/c we had after we knew about the translocation my husband was so gutted. I was lucky that I had my brother to talk to, I hope that your husband can talk to someone also. x

 

[BizyBee]

 

[Kelly9]

Do any of you know if these kinds of chromasonal issues are passed down from family only? Like hereditary or can you randomly get it? My DH was sent in for chromasone testing cause of his low sperm counts, I seriously doubt anything is wrong as no one in his family has ever had this issue. They are testing him for XXY syndome otherwise known as Klienfelder's syndrom but he has no symptoms so like i said I am doubtful. Also testing him for cystic fibrosis as a carrier and a few other things.

 

[Jane1972]

Do any of you know if these kinds of chromasonal issues are passed down from family only? Like hereditary or can you randomly get it? My DH was sent in for chromasone testing cause of his low sperm counts, I seriously doubt anything is wrong as no one in his family has ever had this issue. They are testing him for XXY syndome otherwise known as Klienfelder's syndrom but he has no symptoms so like i said I am doubtful. Also testing him for cystic fibrosis as a carrier and a few other things.

Mine had a genetic link both me & my brother have it. My other brother & sister didn't want to test(one has 5, one has 3 children) although this doesn't mean they have the translocation. Not sure where it came from as my parents didn't want to test & they both come from large familys dad one of 12 mum one of 7. Before I got tested genetics said to my brother it can sometimes happen ramdomly. I hope the tests go ok, they are probaly just crossing the t's & dotting the i's andnot suspecting to find anything.

Hope this helps & good luck hun