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querry
- Question
- 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!
- Answer
- 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
- 14.01.2016