Infertility/Fertility/Robertsonian translocation and pregnancy
Hi Dr. Ramirez, I'm writing from Las Vegas, NV on behalf of a dear friend of mine. She told me this week that she is expecting her third child and it is very early on in the pregnancy, about 5 weeks. She has been diagnosed with Robertsonian translocation and is very apprehensive as she's been told she has a 60 percent chance of miscarriage with every pregnancy. She has two healthy children, and she had two miscarriages in between them. My question is this: is there anything she can do aside from the usual precautions one is supposed to take during pregnancy to help increase the chances of a good outcome? I only learned the name of her genetic disorder last night and the only information I can find on it explains what it is, but not much more. I know that certain precautions can reduce the risk of birth defects, such as taking plenty of folic acid can reduce the chances of spina bifida. Is there anything she can take to help her chances of keeping the pregnancy? Thank you in advance for your time.
Hello Heather from the U.S. (Las Vegas),
It is nice for you to be concerned about your friend, but I'm afraid there is no precaution that can prevent a bad outcome that is genetically derived. Genetic diseases/disorders are manifest in the formation/development of the fetus. At this point in time we have no way to change any genetic disease. In addition, genetic diseases usually manifest immediately upon development of the embryo so whatever effect it will have has already been determined. It would be wise for her to have early genetic testing on the fetus. Her only alternative for future pregnancies would be to consider doing Preimplantation Genetic Screening/Diagnosis (PGS/PGD) using IVF in order to screen the embryos prior to transfer into the uterus. That way she can select only normal embryos. Wish her good luck from me.
Dr. Edward J. Ramirez, M.D., FACOG
Executive Medical Director
The Fertility and Gynecology Center
Monterey Bay IVF Program
Monterey, California, U.S.A.
for additional information check out my blog at http://womenshealthandfertility.blogspot.com
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