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I am starting my pregnancy and according to the doctor’s suggestion I and my husband were tested for >98% of CF mutations at Horemio. The results show that I have a change at the sequence T854T and my husband two changes at the sequence 1716G/A and 4521G/A.
I would like to know if the baby inherits all three changes, is there a chance of suffering from CF? (In case there are no other mutations, since it is impossible to exhaust all possibilities). Thank you!
Dear friend,
You are pregnant and you and your husband have been checked for the greatest possible number (>98%) of CF mutations. You carry the mutation T854T, or better the polymorphism T854T, which does not have any clinical consequences, and your husband carries the mutation 1716G/A and the mutation 4521G>A.
The mutation 4521G>A does not have any clinical consequences. The other one, the mutation 1716G/A is not reported or mentioned in CFTR2, a large database of 88.664 patients with CF. It is reported in greater frequency in patients with chronic idiopathic pancreatitis (Casals, Pancreas 2004, pp 374-9) in relation to the general population.
Even if the 25% chance of the fetus carrying all the mutations from you and your husband comes true, it will not suffer from CF.
If you need any additional information, I am at your disposal.
Yours friendly,
Dr. Stavros Doudounakis