Pregnancy - Combination of parents with deltaF508 & c.3623G>A

Question

First of all, congratulations to your team for creating this useful site.
We are in the 3rd month of pregnancy and in a 99% test of the cystic fibrosis gene in both of us, the c.3623G>A (rs746103666) change was found in heterozygosity in the father and the F580del mutation in the mother.

The nucleotide change in the father is reported as of unknown clinical significance. The mother's is clearly related to the most common mutation for CF.

We visited a clinical geneticist and after searching the databases, it emerged that the father's change is now characterized by some centers as possibly pathogenic, while a case of a sick infant in America with a mild form of CF has also been recorded.

We are going to have the fetus tested in the immediate future. However, in the case where the fetus has received both changes, we feel that we have not received enough information to make a decision about continuing the pregnancy. According to the geneticist, there is no data that could help us because the father's change is considered rare and no cases have been recorded. Is there a center or medical specialty that could give us more information about the possible complications and their severity, for a child with our combination of changes or even about what mild CF disease means?
Thank you very much!

Answer

You can get more information about the clinical presentation from clinicians at specialized pediatric cystic fibrosis centers.
Best regards,
M. Poulou

09.03.2025