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ΔF508 heterozygous and heterozygous state the nucleotide substitution c.2991G>C (p.Leu997Phe / L997F) in exon 19 of the CFTR gene.
- Question
- Good evening! I am 13 weeks pregnant. I underwent molecular testing for 99% of cystic fibrosis mutations, and a heterozygous nucleotide substitution c.2991G>C (p.Leu997Phe / L997F) was detected in exon 19 of the CFTR gene.
Then, my husband was also tested, and he was found to be heterozygous for the mutation c.1521_1523delCTT (p.Phe508del / ΔF508) in the CFTR gene.
Questions:
What are the chances that our baby will have cystic fibrosis?
Should I undergo amniocentesis? - Answer
- The c.2991G>C (L997F) variant is recorded in the CFTR2 database (https://cftr2.org/mutation/general/L997F) as a variant that does not cause Cystic Fibrosis.
Since you have undergone comprehensive genetic testing and no other pathogenic variants were found, you are not considered a carrier of the disease.
Your husband is a carrier of a typical CF mutation (ΔF508). However, even if your baby inherits both genetic changes, it is not expected to develop symptoms of Cystic Fibrosis.
Prenatal testing for Cystic Fibrosis is not necessary.
Best regards,
M. Poulou - 25.04.2025