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Wednesday, April 16, 2014
Inherited Disorders and Birth Defects
Translocation balanced chromosones 18 & 21
Can women with this translocation have normal babies, all my sisters and brother have had kids and they all seem normal. I on the other hand been married for six years to a wonderful man and have not been able to get pregnant. I went through my first IVF a year ago with icsi and PGD out of 20 7 embrios made it but were no good they had no nucleous. My question is can I have normal or balanced eggs (chromosones) should I try IVF again what are my chances? Thank You!
Yes they can. 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 – that is how the chromosomes divide into two daughter cells. 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.
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. In your family, if any of your sisters or your brother also carries the rearrangement, they show that it is possible to have children who are normal.
If you haven’t already done so, you may want to sit down with a genetic counselor or geneticist and talk about these risk figures specifically in regard to your chromosome rearrangement. The National Society of Genetic Counselors resource link can help you locate a genetics center near you.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University