Topics

c.3154T>G (p.Phe1052Val)
Good evening, I am 24 weeks pregnant and after a cystic fibrosis test I was positive for c.3154T>G, my husband did it too and we are waiting for the results. I wanted to ask if it is one of the dangerous mutations or one of the milder ones?
09.03.2025
parents carriers of Phe508del and D924N
Hello. I am a cystic fibrosis carrier in FD508 and I am pregnant. My husband was heterozygously found to have the c2770G>a variant. It is characterized by the database as having varying clinical significance. I spoke with a geneticist biologist and they told me that the husband's mutation is rare, very mild and non-pathogenic, so if our baby inherits the 2 mutations it will not be in a severe form of K.I . What is your opinion?
09.03.2025
Combination of ΔF508 and E822X mutations
Good evening. I am pregnant and after amniocentesis it was found that the fetus is a compound heterozygote for the mutations ΔF508 and c.2464G>T (E822X). I understand that these are mutations of a severe form of CF. However, could you describe to me a clinical picture of this combination? Thanks in advance
09.03.2025
Cystic Fibrosis
Due to the baby's low body weight without other symptoms, we did several tests, including a sweat test with a pathological value of 81 and a sweat amount of 100 mg. The sweat should be 100 mg and above. We then did a genetic test on the baby. It was tested for 2000 mutations and the result was negative, it does not carry any mutations at all. Is it necessary to do a sweat test again? Note that both the sweat test and the genetic test have been done in specialized centers.
09.03.2025
chance of CF - Detection rate
I am 23 weeks pregnant. My husband was tested for 90% of the mutations and it came back negative. I have been tested for 66% and I am also negative. Should I be tested to a 100% to be sure?
09.03.2025
combination of p.Glu826Lys and p.Ala120Thr
Father is carrier of c.2476G>A (p.Glu826Lys) and mother is carrier of c.3258G>A (p.Ala120Thr). Will the offspring develop cystic fibrosis?
09.03.2025
Combination of mutations
My husband and I were found to carry the c.358G>A variant in the prenatal screening. while my husband carries the TG11 polymorphism? 5T/7T of the inner 8. Will there be a problem with our baby?
09.03.2025
Cystic Fibrosis
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?
09.03.2025
Sweat test
Good evening, we did a sweat test and they told us we were in the gray zone twice. They gave us a genetic test. The child doesn't have any clinical picture at all, respiratory problems, etc., only he is off the curve in height and weight a little above the red line. Please, because I'm about to go crazy. Could the borderline test be nothing? Could the genetic test be good?
09.03.2025
Pregnancy - Combination of parents with deltaF508 & c.3623G>A
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!
09.03.2025
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