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Hyperechogenic bowel
- Question
- I am in the 14th week of pregnancy and during a trophoblast test the fetus was tested positive for the DF508 CF mutation (heterozygote carrier). I and my husband have not been tested for any CF mutations. As far as I know there is no CF history in any of our families.
I was informed by the laboratory that the fetus was checked for 53% of CF mutations and they recommend further testing. I was offered three options to test the fetus for 75%, 85% or 99% of the CF mutations. I would like to ask what are the chances for the fetus to have CF for each one of the offered options.
- Answer
- Dear friend,
You are in the 14th week of pregnancy and during a trophoblast testing the fetus was found to carry the DF508 mutation in a heterozygous state, having been tested for 53% of CF mutations. You and your husband have not been tested for any CF mutations, and you are not aware of any family CF history.
If you are tested for 75% of the CF mutations and the results are negative, the chanced for the fetus to have CF are 1/200. If you are tested for 85% of the CF mutations and the results are negative, then the chances for the fetus to have CF are 1/332, whereas if you are tested for 90% of the mutations the chances are 1/500. The more mutations you are tested for, the less are the chances for the fetus to have CF.
Yours friendly,
Dr. Stavros Doudounakis
- 03.03.2016
