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Forum Name: Obstetrics

Question: Genetic Testing


 Res4928 - Tue May 05, 2009 5:05 pm

I had my 16 week appointment today, I've gained 2lbs so far and the heartbeat was 155 today. I have a rare disease known as Coats Disease that slightly effects my vision along with two webbed toes and a short thumb. My Dr. wants me to get genetic testing done next week and now I am so nevous. Are these things really something to be conserned about and what exactly could be the issues. I have no family history of mental retardation or any miscarrages. Please Help
 Debbie Miller, RN - Tue May 19, 2009 6:17 pm

User avatar Hello,
It has generally been accepted that this is not a genetic disease, though some studies have suggested the possibility. I'm not sure what good genetic testing would do because the condition does not put your fetus in danger, needing some intervention at delivery or other reason to try and discover the cause. If you prefer not to have the testing, it should be your decision. I see no compelling reason for expensive testing of limited value. Perhaps you could ask your doctor what findings might be beneficial. If you are not satisfied of the need, feel free to refuse.

I hope you are able to enjoy your pregnancy without being overly concerned about the potential for problems. As you have learned yourself, these things are manageable and hopefully one day there will be a cure.

Best wishes.

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