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Sunday, April 20, 2014
Inherited Disorders and Birth Defects
Balanced translocation 5:22
I have had 3 miscarriages. I had a karotype after the 3rd and I was diagnoised with balanced translocation 5:22. I have recently seen a genetic specialist. She gave us her opinions but I`m really not sure what to do. It seems safer as I feel I`m more likely to get a healthy egg should I try to conceive naturally or go straight to in vitro fertilization. I don`t want to wait til it`s to late and the waiting time for IVF can be quite long. I don`t think I could go through another miscarriage again, however my husband wants me to give it another go, naturally. What advice could you give me?
As I am sure you already know, the chance of having an egg that has the unbalanced translocation vs. the normal or balanced rearrangement depends on how the chromosomes line up, divide and separate. In theory, there is a 25% chance that the gametes (eggs or sperm) that the mom or dad produces – will have a normal chromosome complement, a 25% chance that the egg or sperm will have the balanced translocation and a 50% chance that the egg or sperm would produce an unbalanced chromosome complement. Usually the eggs or sperm that produce an unbalanced complement are miscarried because they are not viable – not able to produce a live born child. Unfortunately, researchers do not know why some people who are carriers of balanced chromosome rearrangements miscarry more frequently than other people with the same chromosomal rearrangement.
My first recommendation would have been to speak a genetics specialist, which you have already done. My second recommendation would be for you also speak with a specialist in reproductive medicine with an interest in infertility and in vitro fertilization. Regardless of what you decide to do - a reproductive specialist would be able to answer your questions and provide you with specific information about IVF for genetic indications, such as yours.
The American Society for Reproductive Medicine’s website listed below has a wealth of information available to couples and a site for finding a reproductive specialist hear you.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University