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Possibility of CF - DF508 traced
- Question
- Τhe embryo was found to carry the DF508 mutation. I and my husband were tested and it turned out that the DF508 mutation is also carried by my husband. We expect my results (95% of CF mutations checked).
We were informed that in case I am found to carry one other mutation, the embryo must be checked again to ascertain if it is a simple carrier of DF508, or if it suffers from CF.
a) In case that the embryo has CF can the pregrancy be terminated?
b) In case I do not carry any mutation (95% check), what are the chances for the embryo to have CF due to the 5% of the unchecked mutations?
- Answer
- Dear friend,
a) You were rightly informed that you must be checked to find out if you carry a CF mutation. If you are a carrier, then the embryo must be checked, and if it has CF it is possible to terminate the pregnancy.
b) In case the check for the 95% of CF mutations turns up negative, the chances for the fetus to have CF is 1/2300, which get smaller the more mutations are tested for.
Yours friendly,
Dr. Stavros Doudounakis
- 20.05.2014
