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CF mutation carriers
- Question
- My wife and I are carriers of a CF mutation. Four years ago my wife was pregnant and she and I were tested and found positive. Afterwards, since the pregnancy was advanced, the doctor took a sample from the fetus, which was found to be just fine, not even a carrier. My wife is now pregnant for the second time. What testing must we do to find out if the fetus suffers from CF?
- Answer
- Dear friend,
You and your wife are carriers of a CF mutation. When she was pregnant the fetus was tested and found to be normal. I would like to know the kind of testing you underwent 4 years ago (amniocentesis or trophoblast) and the mutations that were tested.
The kind of testing performed on the fetus’s cells depends primarily on the age of the fetus (10-12 weeks trophoblast, 16-18 weeks amniocentesis).
In each and every pregnance there is a 25% chance for the fetus to suffer from CF, a 50% chance for the fetus to be a carrier of a CF mutation and a 25% chance for the fetus to be totally normal.
Yours friendly,
Dr. Stavros Doudounakis
- 24.02.2017