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Genetics (Expert Forum)
Balanced Translocation and Pregnancy
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
Balanced Translocation and Pregnancy
by marie1210, Sep 28, 2007 01:39PM
As a brief history of myself, I was diagnosed with a balanced translocation on chromosomes 2 and 14 after 3 consecutive miscarriages. My genetic counselor informed me that in my particular case, based on p arms and q arms (?) that my chance of carrying a healthy child to term is about 75%. All of my miscarriages happened 8wks and earlier, two of which were blighted ovums. I am currently 11 weeks pregnant, had an ultrasound yesterday and all seems to be going well. In your opinion, if this baby had a defect, as I assume the others did, would I have miscarried by now? This is the farthest I have made it and everytime I see the baby the heart rate is good, 165, and it's kicking and moving around. I assume all signs of a healthy fetus. It's just that I'm trying to relax and don't know when I can. I know you may not have a definite answer to this, or an answer at all, but I thought I would ask. Just an opinon would be helpful as well. Thank you kindly for you time.
Doctor's Answer
by Lisa Kessler, MS, CGC, Sep 28, 2007 07:11PM
, Sep 28, 2007 07:11PM
Congratulations on your pregnancy!
It seems to me that a sigh of relief is just around the corner. Most miscarriages happen between 10-12 weeks of pregnancy, but the fact that everything looks great at 11 weeks is good news.
Without knowing the exact size of the 2:14 translocation you have I can’t give you complete reassurance that you are out of the woods, but in general most “unbalanced” chromosomes involving extra 2 or 14 chromosome material results in an early miscarriage. Your genetic counselor who has the benefit of having a copy of your chromosome report will be the best one to tell you if there is a chance to have a pregnancy with “unbalanced” chromosomes specific to your case go to 11 weeks or beyond with no identifiable problems. If you haven’t spoken to your counselor yet, I bet he or she would be glad to hear from you and know you had a great 11 week ultrasound.
It seems to me that a sigh of relief is just around the corner. Most miscarriages happen between 10-12 weeks of pregnancy, but the fact that everything looks great at 11 weeks is good news.
Without knowing the exact size of the 2:14 translocation you have I can’t give you complete reassurance that you are out of the woods, but in general most “unbalanced” chromosomes involving extra 2 or 14 chromosome material results in an early miscarriage. Your genetic counselor who has the benefit of having a copy of your chromosome report will be the best one to tell you if there is a chance to have a pregnancy with “unbalanced” chromosomes specific to your case go to 11 weeks or beyond with no identifiable problems. If you haven’t spoken to your counselor yet, I bet he or she would be glad to hear from you and know you had a great 11 week ultrasound.
