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Cystic Fibrosis
- Otázka
- After the genetic testing for CF mutations my wife was found to be a carrier of the c.476T>C, L159S exon 4 mutation. She is now 16 weeks pregnant. I am being tested for the 95% of CF mutations. In case I am a carrier of a CF mutation, what chances does the fetus have to suffer from CF and what kind of symptoms will it have? If it is a boy, is it certain that he will have azoospermia? What are the chances?
- Odpověď
- Dear friend,
Your wife was found to be a carrier of the mild L159S CF mutation. This mutation is not reported in CFTR2, the largest database of clinical and genotype references about CF. It is mentioned in various scientific reports.
You expect the results from your own test about CF mutations. In case you are a carrier, there is a 25% chance that the fetus will suffer from CF, a chance that goes for each later pregnancy. If the fetus has CF and is a boy, he will have obstructive azoospermia (sterility).
Yours friendly,
Dr. Stavros Doudounakis
- 07.01.2018
