Topics

Screening test in pancreatic sufficient people
Good evening, How can mild cystic fibrosis forms be detected through the neonatal test even though those patients do not have pancreatic insufficiency? I read in an article that patients with pancreatic sufficiency are not detected in the Guthrie test but several times I read the opposite. Has the ...
18.04.2016
CF Screening Test
Hello, Currently pregnant 2 months and a half, I have a niece who has cystic fibrosis (my sister’s daughter) and my spouse has a cousin, a boy of his mother's sister, who is CF. I wonder if there is a chance we be carriers?
25.04.2016
Does an ICM (intestinal current measurement) make sense?
Dear ladies and gentlemen, there is an adolescent patient, who has had a sweat test result in the borderline area at a CF center and in a second experienced CF center the sweat test results were as well in the borderline area (chloride concentration in the sweat with pilocarpine ionotophoresis) ...
16.04.2016
ISET (Isolation by Size of Tumor cells) Test
Hello, We have learned that we are CF carriers and we now expect a child (4th months of pregnancy). Now we are extremely anxious. We live in Switzerland and it seems that the Iset test for CF is not available in Switzerland. Can you advise us how to do this test in a French hospital near Geneva? ...
08.04.2016
Diagnosis
Hello, how high is the risk, in spite of negative tests after birth (those test had been done because the sister of the mother suffers from CF), that the child has still CF? The digestion seems to be o.k., a nearly permanent cough is striking. The child is 2 years old and is in contact with many ...
14.03.2016
Shall we do a testing?
Hello, my brother is suffering from CF (lung and pancreas involved). I have an 8-year-old son, who has since birth again and again bronchitis, barking cough, high fever, obstipation, problems with the stomach. He has now his third pneumonia, which is bothering us now for 7 weeks already...! His ...
06.03.2016
Hyperechogenic bowel
I am in the 14th week of pregnancy and during a trophoblast test the fetus was tested positive for the DF508 CF mutation (heterozygote carrier). I and my husband have not been tested for any CF mutations. As far as I know there is no CF history in any of our families. I was informed by the ...
03.03.2016
Hyperechogenic bowel
My daughter is 29 years old and is pregnant for the first time. During her investigation in the 21st week of her pregnancy an hyperechogenic bowel was found in the fetus. The blood testing and the testing for Downs syndrome were normal. Can you tell me something about the possibility of CF?
03.03.2016
Negative gene sequencing and negative sweat test
Can you rule out cystic fibrosis with a negative gene sequencing and a negative sweat test? Is the sequencing reliable and able to rule out the disease in a child? Thank you very much
01.02.2016
Intermediate sweat test
Hello, I ask myself a lot of questions after reading one of your answers to a subject. You said in this response that the sweat test should be less than 30 µmol/l. My 16-months-old daughter has CF (diagnosed at 1 month) with a DF508 mutation and another mutation of class 5 G3272-26A and a sweat ...
01.02.2016
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