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Inherited Disorders and Birth Defects

Balanced Reciprocal Translocation



Just recently I was diagnosed with a balanced reciprocal translocation (4,22). Also, my husband and I started IVF with PGD. Out of 10 embryo cells sent for testing only 1 was balanced but an additional aneuploidy test revealed a monosomy of 21. The end result...no viable embryos. I am 39 years old and am hopeful that another attempt would result in a normal embryo. Is there any reason we should not attempt again? My age and the fact that we have never been able to conceive on our own without miscarriage is a true concern. I want to think that there is a chance but the idea of another failed attempt weighs heavy.


The issues you are talking about are very complicated and are very emotionally draining, which must be very difficult for you.

Although you are a balanced chromosomal translocation carrier, theoretically, you should have some eggs that do not carry the translocation. So there should not be any specific reason you should not attempt another IVF and PGD cycle. However, as you mention, there are issues such as your age that complicate getting pregnant and not miscarrying, etc, as well as the translocation. I would assume that you have discussed all of these issues with your doctors doing your IVF and PGD. Perhaps speaking with a someone who does psychosocial counseling in this area would also be helpful. These would be the best specialists to discuss these issues with you and your husband.

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Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University