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Willebrand disease and CF prenatal diagnosis
- Question
- Hello, my partner is a carrier of a CF gene mutation, so we made an test for me and I am unfortunately also carrier of the gene. We were explained the risk is 1/4 chance of having a child with CF and the possibility of diagnosis at 11 weeks of pregnancy. The problem is I have got also Willebrand disease at no higher rate. Is it consistent with this diagnosis at 11 weeks ?
- Answer
- Hello,
If you and your partner are both carriers of a CF mutation, the risk that you give birth to a CF child is actually one in four for each pregnancy. It is possible in early pregnancy, from the 11th week of gestation, to check if the fetus has CF (carrying two mutations) or not.
The fact that you have got the Willebrand disease should not prevent the biopsy of the placenta (trophoblast). Anyway, it is appropriate that you contact a medical genetician who will answer any other question and organizes the test.
[French link for finding the nearest CF center/genetician was left out].
Gilles RAULT, MD & Philippe PARENT
- 03.11.2014
