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Cystic Fibrosis
- Question
- Good morning,
I am 11 weeks pregnant and after taking the cystic fibrosis test that examines 99% of cases, I was found to be heterozygous for the nucleotide substitution c.601g>a in axis 6a while I do not carry any other mutation in the remaining areas of the gene.
My husband also took the corresponding test and we are awaiting the results.
Since I am pregnant with twins, please tell me
Shouldn't the husband have the same mutation or should he generally not test positive for any mutation? - Réponse
- In order for symptoms of the disease to appear, the patient must have inherited 2 pathogenic variants of the CFTR gene. The changes carried by the parents do not have to be the same, but they must be changes that have been characterized as pathogenic.
Best regards,
M. Poulou - 09.03.2025
