This is not a scientific explanation. I am not a doctor or any type of medical professional. I am just someone trying to having a family that is affected by this.
After several years trying to conceive, multiple IVF cycles, and 2 miscarriages, we did a chromosome analysis called a karyotype which revealed that my husband is a balanced translocation carrier. Never heard of it? Yeah, me either...until it happened to us. It's a big word (or phrase) and my husband can't even remember what it's called half of the time!
From what I understand, this is a condition that affects about 1 in 500 people, so once again, we are that lucky ONE! Many translocations are inherited, but they can also be "de novo" which is Latin for "from the beginning."
Anyway, basically what is means is that when my husband was conceived, pieces of two of his chromosomes broke off and switched places with one another. If you dig back in your memory banks to middle school science class, you'll remember that each of us have 23 pairs of chromosomes (46 in total). My husband has all 46 chromosomes, but they are arranged a little differently. Basically a piece of his #5 chromosome is attached to his #11 and a piece of his #11 is attached to his #5. See the picture below for a visual example.
He is totally normal (or so the doctors tell us!) and this has no affect on his health whatsoever, but the problem enters when we go to make a baby. The baby will get one of each of our chromosomes. My husband has one normal #5 chromosome and one normal #11. As long as the normal ones are chosen, we are good. If one of the multi-colored ones shown in the picture above are chosen, the baby will end up with too much or too little chromosomal material. This is called an unbalanced translocation.
So here are some combinations of what can happen when we go to make a baby.
I thought I had seen it all when we entered the world of infertility and IVF and then when we were diagnosed as a balanced translocation carrier, I have been introduced to a whole other realm of the fascinating process that is involved in making a baby. Terms like karyotype, breakpoints, Robertsonian, trisomy and monosomy.
So, what do we do about this??? We have chosen to do IVF with Preimplantation Genetic Diagnosis (PGD). To read more about PGD, click here.
Here are some questions I had when we first received our diagnosis:
1. We just got the results of our karyotype and found out one of us has a balanced translocation. Now what??
Our RE recommended that we see a genetic counselor. We did that and it was the biggest waste of time. Now, that being said, I really do think it was the particular counselor we saw. I'm sure others are more helpful. Basically, we did a full inventory of medical problems in both of our families to see if a) we could determine the source of the translocation; and b) to see if there were other conditions we should test for. The genetic counselor basically recommended that we try and conceive naturally and basically "endure" the miscarriages that will likely result from this condition. They felt there was a very very small chance that we would ever have a live birth from a chromsomally unbalanced embryo and we could determine the health of the baby through pre-natal screening. Many people do choose this path and more power to them. For us, we already had ovulation and sperm issues and had already been doing IVF for those issues when we found out about the balanced translocation. So, to add PGD to the IVF process wasn't as big of a deal for us, and we just preferred to avoid the miscarriages. For those people that had been conceiving normally and then are given the choice of IVF with PGD, I imagine that is a much harder decision.
2. How many embryos is it going to take to get a normal one?
This was one of my very first questions. If the answer is 1 in 100, this obviously isn't going to work. But if it's 1 in 5 or 1 in 10, then we have a shot. Unfortunately, there aren't any straightforward answers to this question. You may do one cycle and have NO healthy embryos and the next you may have several. It really just depends on your particular condition and it takes some luck.
3. Shouldn’t the embryos that are growing and developing normally be the "healthy ones"?
Apparently chromosomally normal and embryo development are completely independent of one another. So while we were making these beautiful blastocysts, they could have been completely flawed from a chromosome perspective. Conversely, you might have a "slower" embryo that is chromosomally normal and ordinarily wouldn't be selected as the top one to be transferred. PGD tells you all of that.
What other questions do you have? Let's use this page as a way to help each other.
Apparently chromosomally normal and embryo development are completely independent of one another. So while we were making these beautiful blastocysts, they could have been completely flawed from a chromosome perspective. Conversely, you might have a "slower" embryo that is chromosomally normal and ordinarily wouldn't be selected as the top one to be transferred. PGD tells you all of that.
What other questions do you have? Let's use this page as a way to help each other.
