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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
c.3154T>G (p.Phe1052Val)
Good morning, during the prenatal checkup we did the cystic fibrosis test and both my husband and I were 100% positive and we were both heterozygous for the c.3154T>G (p.Phe1052Val, rs150212784) variant. If the child turns out to be homozygous for c.3154T>G (p.Phe1052Val, rs150212784) what problems might he have? Thank you very much in advance
05.03.2025
pancreatitis / Cystic fibrosis
Good evening. I am 11 weeks pregnant and the cystic fibrosis test showed the following: No pathogenic or likely pathogenic variant mediating the classic cystic fibrosis disease was detected in the examined sample. The examined sample carries the mild variant c.3705T>G (p.Ser1235Arg, rs34911792) in heterozygosity, which is characterized as non-pathogenic with regard to the manifestation of cystic fibrosis from the CFTR2 genotype-phenotype association database (non CF-causing). Based on the international scientific literature, the p.Ser1235Arg allele may be a risk factor for the occurrence of clinical conditions that have been associated with mutations of the CFTR gene (CFTR-Related Disorders) such as pancreatitis alone or together with variants of other genes involved in the occurrence of pancreatitis. (PMID: 11186891, 25799511, 25033378 ) Now the husband will also be examined. In case a mutation is found in him, is it dangerous? Or must exactly the same heterozygotes be found??
05.03.2025
Cystic Fibrosis
In a MOLECULAR TEST OF MUTATIONS OF ALL CODING REGIONS OF THE CFTR GENE WITH Next Generation Sequencing that I did, the result was: In the sent material, no mutation was detected that is associated with a typical Cystic Fibrosis phenotype. However, in the other findings it was written that the nucleotide change c.2002C>T (p.Arg668Cys) was detected in a heterozygous state. I would like to know what this means? and if there is a problem in future pregnancies.?
05.03.2025
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