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Mutation F508del
- Question
- Good evening,
I am 38 years old and 6 months pregnant in my second child. After the amniocentesis the fetus was found to carry at one gene (heterozygote) the F508del mutation. Our first child – 5 years old – does not have any symptoms. Is there any danger for the fetus?
Thank you,
S.D.
- Answer
- Dear friend,]
Your fetus most probably is a carrier of the CF gene, like thousand other adults. Nevertheless, there is a small possibility for it having CF, since at one gene the mutation F508del has been detected and the possibility that the other gene may have a rare, or non detectable CF mutation cannot be ruled out.
For this reason it is advisable to give the newborn an IRT test, in order to rule out the possibility of CF.
Yours friendly,
Dr. Stavros Doudounakis
- 28.03.2011
