Balanced Translocation...?

Question

Anyone here or a signifigant other of someone here have a balanced translocation and have children?? AKA a chomosome rearrangement. If so, please share your story with me. My husband and I are planning to start a family but are concerned because he has a balanced translocation (he himself is perfectly fine and normal except for the fact that he carries the gene for it.) and we know there can be difficulties due to it. We could use any help or advise from someone who has experiance with this, we dont know where to start. Thanks in advance!!

Answer 1

Every chromosome is unique, and every portion of a d.n.a. (sequence) is unique to any other sequence. That is, the genes that may be affected.
Therefor, regrettably, someone else's experience may have no genetic guidance for you and your partner. Because his affected genes are most probably unique to him. Please consult with a genetics counsellor or a genetisist.
The human genome has been recently sequenced and there is a good chance that the genetic sequence, that is rearranged, i.e.
genes are already characterised. (in other words, their function is known.) His genes may be duplicated elsewhere (some traits have several genes that do the same function), or they may be ofd no significant effect, or they may be important or essential and could kill the foetus, or result in a birth defect of varying severity. (from trivial to life threatening.)
Doc. Dan.

Answer 2

I have a balanced translocation between 13 and 21 and have been trying to have a child for 2 1/2 years. No luck yet.

I would suggest talking to a genetic counselor about your risk of carrying an unbalanced baby to term. That's really the most tragic outcome, and the likelihood of occurance is different with each translocation. You genetic counselor can submit your information to Dr. Trunca who will determine the percentages of miscarriage, carrying an unbalanced child to term, and healthy pregnancies. http://www.thegeneticscenter.com/transrsk.htm
Although your experiences may differ significantly from the percentages you're given, it may be helpful to have a starting point.

An unbalanced child will either be severely handicapped mentally and physically and may die soon after birth. With some balanced translocations the risk is only 1%. With some the risk is 30%. It depends on the translocation and how lethal the unbalanced arrangement is.

You will most likely experience miscarriages along the way. It's unfair and very painful emotionally, but it's reality for those of us with a BT.

If you are afraid to try naturally you could try In Vitro Fertilization with Preimplantation Genetic Diagnosis (IVF/PGD). With this procedure they harvest your eggs and combine them with your husband's sperm to create embryos. They biopsy (take one cell off) each embryo and test them. Then they implant only healthy embryos (carrier or normal) into your uterus. Unfortunately this method is has a somewhat low success rate and is very expensive ($15,000-25,000 per cycle).

As far as my experiences go, I've tried naturally twice. Both children were unbalanced and I lost them at 23 weeks and 12 weeks into the pregnancy. I've done 3 IVF/PGD cycles. We only had 1 healthy embryo out of the 24 from the three cycles. Unbelievably the 1 healthy embryo miscarried at 6 weeks. We are now in the process of adopting and have just begun to try again naturally. It's been very heartbreaking.

I think I have had just terrible luck. While I was the first diagnosed in my family with the BT (after our 23 week loss) we now know it runs throughout our family. My father had it (3 children/2 early losses) and he got it from my grandfather (4 children/3 losses). Both of my brothers also has it (one has a newborn from their 3rd IVF/PGD cycle. Never tried naturally). Some of my grandfather's siblings also have it, as well as their children. Everyone affected has children, between 2 and 5 each, along with many losses.

As long as you don't have significant fertility issues, having a biological child is very possible. But it is difficult. If you do get pregnant you have the option of having a CVS or amnio to determine if the baby is healthy. CVS is performed around 10-12 weeks into the pregnancy. Amnio is performed later. There is a slight miscarriage risk with each. I have had both procedures done with out complications.

If you'd like support there is a website on yahoo for those with a BT (or whose spouse has a BT). The site is: http://health.groups.yahoo.com/group/balanced-translocations/

Good luck!