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CF testing

Question
I am 9 weeks pregnant and my doctor recommended to get tested for CF. The 300 euro cost is prohibitive. Do you think I must get tested?
Answer
Dear friend,
You are 9 weeks pregnant and your doctor recommended to get tested for CF.
The genetic testing for CF is recommenden by the American Society of Gynecologists and the National Society of Clinical Genetists since decades for any person of Caucasioan descent, in order to find the carriers of the CF mutations and to prevent the manifestation of the disease.
CF is a chronic hereditary disease that affects the life of the patient. In case you carry a CF mutation, your spouse must be checked, since, if you are both carriers, then the fetus has a:
25% chance to carry no mutation
50% to carry one mutation (like you and your spouse, healthy)
25% to carry two mutations and suffer from CF.

The CF gene is a large one and uptodate there have been more than 2000 mutations detected.
If there are financial difficulties for getting tested for 99% of CF mutations, you can get tested for the most frequent CF mutation (DF508), which is found in 53.4% of all Greek CF patients.
Yours friendly,
Dr. Stavros Doudounakis
09.09.2018