I have Balanced Chromosome Translocation. What that means in basic terms is that two of my chromosomes are mixed up. My BCT is of my #1 chromosome and my #13 chromosome. Basically if you look at all my chromosomes in a row, they all look normal. Except a little piece from my #1 chromosome and a piece from my #13 chromosome switched places.
This is my #1 and #13 chromosome for example
(sorry it’s fuzzy -it’s hard to find pictures that are easy to understand)
So when my chromosomes break off to meet the 1/2 of my husband’s chromosomes to make the baby they don’t always break off right. Depending on how my chromosomes break off that is what gives us a (un)viable pregnancy.
There are 4 different ways that my chromosomes could break off. I will explain each way here.
#1: They break off normal and when met with my husbands we have a chromosome perfect child.
#2: They Break off translocated and although my child will be a carrier of translocation (like me) they will be healthy in all other forms (like me)
#3 or #4: The chromosomes break off in a way that there is too much of one chromosome. As you can see in #3 and #4 in the picture above, there is too much black, or too much white. If that happens it is called “Duplication-Deletion” and there is not enough of the other chromosome and the pregnancy is not viable.
My genetics doctor has said that I basically have a 1/3 chance of miscarriage with any pregnancy. Most women have these kinds of odds with their first pregnancy but after that the odds go down significantly. With my translocation I have these odds with any pregnancy.
Our RE said that we could do a few different methods to TTC. He said we could stimulate me to get as many eggs as possible and then just do an IUI and hope for the best, or IVF with Pre-implantation Genetic Diagnosis (PGD) would be the best option for anyone with BT.
(Which is where they wait until the embryo’s have formed with IVF and before they put the eggs back into my uterus they pull DNA from each egg and they look at the chromosomes. They can then tell us which ones would be “normal”, carriers, or duplicate-deletion. Therefore only implanting the ones that would turn into viable pregnancies.) But this is a procedure that would cost up to 20K a cycle with no guarantee that it could work…
Or donor eggs. That is an option we could use but our RE (who sometimes forgets we have limited funds and aren’t rich by any sense of the word) things we could try a few other things first…
Here is a video of what PDG looks like with IVF.
If you have any questions feel free to email me.
Thanks for reading! 🙂