Advice

Question

I am in the 6th month of my second pregnancy and I just found out that my husband is a carrier of the CF gene. My first child has now shown any symptoms and I believe it is healthy. Should I be tested for CF, or should I let things run their course, since my pregnancy is advanced and my first child is healthy?

Answer

Dear friend,
You are in the sixth month of your pregnancy and you were informed that your husband is carrier of the CF gene and you already have a healthy child. By the time you receive the results of the testing if you yourself are a carrier of a CF mutation several days will have passed. If you are not a carrier, the baby will be healthy and at most a carrier itself. If you are indeed a carrier, there is a 25% possibility that you will give birth to a child with CF, something that can be verified with amniocentesis during your pregnancy, but by then you will be seven months pregnant. That means that the fetus will be fully grown and viable, so an artificial termination is not possible.
In case it turns out that you are carrier and the fetus has not been tested via amniocentesis before birth, then, as soon as you give birth, the baby must undergo an IRT examination and/or mutation analysis to verify if it has CF. You must be tested for the CF gene in order to take precautions for a future, third pregnancy.

Yours friendly,

Dr. Anna Katelari - Ioannidi

05.01.2010