A thing about translocations...

Ok. So today is 3 weeks and 4 days. Gosh, it seems like forever already! I have been trying to keep myself occupied and not think about it, but it's nearly impossible for me to think of something else! People say that the hustle and bustle of the holidays are supposed to be a distraction, but I don't think it's working for me. Sigh.

Since I can't think of anything else but our 18 blasts -- 3 blasts that are PGD normal for 13 & 15 and 15 blasts waiting on CGH results -- I might as well not fight it and just blog about it.

We first heard the term Robertsonian Translocation from our first RE here in FL back in May '06. Because of the severity of the male factor (abnormal everything), the RE had Jerry karyotyped. We weren't opposed to it because every single exam that Jerry had to take (some of which were very painful like the trans-rectal ultrasound), everything came back normal. We just wanted answers. We were expecting his DNA to come back normal as well. I remember thinking, before we were told the results, that anything would be better than abnormal DNA. OMG, I was in shock and disbelief when we got the devastating news. We spoke with a geneticist in Boston, and I asked her how this could be. There really is no answer, as all of his siblings and his parents would have to be tested. All of his siblings and/or spouses are past the child-bearing age or had other issues going on, so the geneticist said that there would be no point in testing them. Only one of his siblings has a biological child. Two of his siblings resorted to adoption to complete their families. And one sibling chose not to have any children, as his spouse already has children from a previous relationship and doesn't desire any more. Upon hearing this, the geneticist told me that most likely the translocation could've been inherited. We spoke with 4 different geneticists, and they all said, after going over Jerry's family history, that it could most likely have been inherited rather than some random event.

If you click on the picture at the top of this post, you can see the translocation and how it affects the embryos. Before, it all seems so abstract. But after actually taking a look at the translocation, it gives me a better grasp on the whole thing. And when I study it further, it just makes me scared, scared at just how severe it really is. Because of the translocation, out of the six possible combinations, only 2 embryos would be viable - one completely normal embryo and one having the balanced translocation. Futhermore, we learned that about 65% of the sperm are affected. Our geneticist says that although it's good to know what we're dealing with, it doesn't mean that every cycle 65% of the embryos would be abnormal. Sometimes, there may be less abnormals and sometimes more abnormals. The 65% came from the sperm that was checked at that particular time (last June).

With our first two IVFs we did PGD, specifically the FISH testing. The FISH testing was used to screen for the affected chromosomes. With our first IVF (at the local FL clinic), we had 8 "normal" out of 17 embryos tested. However, we couldn't rely on the 8 being really normal. You see, the FL RE tested for 13, 18, 21, and the sex chromosomes, totally skipped testing for chromosome 15. While the additional chromosome testing information is useful, our situation didn't require 18, 21, or the sex chromosomes to be tested. Therefore, we couldn't trust if what he deemed "normal" is really normal in our case. So that's why we had the 5 remaining frozen blasts re-tested. (There were only 5 frosties left after the 3 failed FETs.)

With my 1st IVF/ICSI/PGD cycle at CCRM this past July, we had 23 embryos that were tested for chromosomes 13 and 15. And at the same time, Dr. Schoolcraft also tested the 5 frozen blasts from FL. Out of the 23 fresh embryos, only 7 were normal for both 13 and 15. And with the re-tested blasts, only 1 was normal and 1 was inconclusive. One 5AA and one 4AA blasts from the fresh IVF were transferred. BFN. Out of the fresh, only one made it to freeze and the re-tested blasts were also frozen. So at that time, we have 3 blasts on ice. With our November IVF/ICSI/CGH cycle, we have 15 blasts that we're waiting on on the results.

Because I've never even got so much as a BFP after transferring top quality blasts, there may even be a bigger problem with the chromosomes than expected. So that's why we're doing CGH, where it tests for all of the chromosomes. The FISH testing is limited to testing on a few chromosome pairs. Although it is great that chromosomes 13 and 15 could be tested with FISH, it doesn't test for the other chromosomes that might be affected due to the bulkiness of the translocation. Our CCRM geneticist told us that perhaps the translocation affected other chromosomes from pairing up correctly. So by doing CGH, hopefully we'll get some answers.


Nikki said...

Story of our lives as well, Linda. Only my DH's is not a Robertsonian, but a reciprocal BT on 11 and 22.

His tests have always been great and we found out the BT quite by fluke, really. In his case it seems inherited too, although his brother and sister both have 2 children each. His maternal aunt has had a couple of babies with symptoms that relate to a UBT. But we don't know for sure. The children with these symptoms died, and his aunt went on to have 3 "normal" girls. None of them have been tested though - they all live overseas, and don't really understand the concept. DH's sister and SIL both had a couple of pregnancy losses, but again, nobody has been tested.

CCRM recently did a FISH on his semen and told us that we have a 64% abnormal rate. However, the last 3 PGDs have shown a higher abnormal rate. So it appears that his abnormal semen is more efficient in fertilizing my eggs!

In our case apparently they cannot do CGH, so we are stuck with FISH analysis again, for our upcoming cycle with CCRM. I hope we can get one normal one at least! :-)

I'm keeping my fingers crossed for you for your CGH results. A few more weeks and you will know! I'm hoping for super duper results for you!

Sorry for the long winding comment - it's a topic so close to my heart that I kept going... :-)

Nikki said...
This comment has been removed by the author.
Nikki said...

My comment posted twice for some reason - deleted one copy.

Anonymous said...

I am praying for you and DH, I hope you get all the answers you have been waiting so patiently for. Stay strong, I am thinking of you.

DAVs said...

I'm so glad you are getting to do the full CGH testing this go around. And you had so many blasts to test--so I'm really really hopeful for you. 2009 is going to be THE YEAR!

Lisa said...

Great post Linda! Very informative and will be so helpful to others in the same position.

I'm hoping the wait goes quickly and you get lots of normals!