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Thursday, April 17, 2014
Inherited Disorders and Birth Defects
My husband and I are seeing a genetic counselor on Monday and I am just reading up on things prior to, trying to get myself prepared. We have 2 healthy children ages 6 and 4 and now we have had 3 miscarriages in a row. The last one they tested after the D & C and I am pretty sure they found it had translocation as it seems this is what they will be testing us for. They said that they had some maternal cells and they all came back normal so it could be that is is with my husband. I am hoping that there is a chance that this baby was the first with translocation and that neither of us are a carrier. I don`t know if this is even possible. I am scared and would love to have another child so I am willing to look into all avenues but my husband seems very reluctant. It does cause so much stress in a marriage. I would love to know more if possible or if you have any further advice or knowledge on this matter. Thanks!
Most chromosome problems, including translocations occur spontaneously and not inherited. A translocation occurs when two pieces of chromosomes break off and switch places with each other. If any of the genetic material is lost or duplicated, so that there is extra and / or missing genetic information, then this usually leads to a miscarriage.
Much less often, one of the parents may have a balanced chromosomal rearrangement, where two pieces of chromosomes broke off and switched places. If all the chromosomal material is present, just rearranged (translocated) – this person is called a balanced translocation carrier and should have no health problems since all the chromosomal material needed is present and functioning properly. However, when a person with a balanced chromosomal rearrangement forms eggs or sperm, some of the chromosomal material can be lost or duplicated. This is what leads to an unbalanced translocation and usually a miscarriage. Occasionally however, that pregnancy can go on and the baby is often born with abnormalities and has mental retardation.
If a parent has a balanced translocation, while they are at risk to miscarry somewhat more frequently than people who do not have a chromosomal translocation, they can have perfectly healthy pregnancies and children - as you do.
I am happy that you are seeing a genetic counselor. He or she will be able to answer your questions in more detail and specifically in reference to your particular situation.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University