Topics

Possible Pregnancy, CF and IVF
We have tried IVF and we are at a very early stage. Unfortunately I did not manage to do any testing for CF. I am now gathering information about it. I would like to know (if we get positive results about the pregnancy) when and how I can find out if the embryo is a carrier and if there is any ...
14.02.2012
Carrier couple and pregancy_2
We are a couple, both of us carriers of CF mutations (Leu732x & DF508). The results of the amniocentesis (at 17 weeks of gestation) showed that the embryo will have CF. How grave is the combination of these two mutations for the life expectancy of the embryo and the course of the disease?
29.02.2012
Carrier couple and pregancy_1
I am a carrier of the Leu732x CF mutation and my husband carries the DF508 one after being tested for 95% of mutations. The amniocentesis was positive for CF in the embryo and the pregnancy (normal conception) was terminated. All test were done at Horemion Laboratory. How severe would have been the ...
29.02.2012
Mutation Class Assignment for Q493R
My daughter carries the delta508 and a rare Q493R. Can you please help me understand the mechanical defect of this protein caused by this sequence variation Q493R. My best guess from literature is that it is Class III (defective channel regulation). Thank you!
16.01.2012
N1303K mutation
Hello, I have a question. Although I am aware that the course of illness is different for each mutation, I would like to know how the course will be roughly with the N1303K mutation. My daughter is three years old and has not had any lung problems so far, except that she gets exhausted quickly. ...
16.01.2012
Cf heterozygote carrier
After CVS testing the baby is heterozygote carrier of CF. Will it be born ok, or are there any other testings to be done?
20.01.2012
DeltaF508 carrier
Hello, I have a son with CF and am a DeltaF508 carrier. I have severe mucus obstruction problems – both in the upper respiratory tract and gynaecological – with constant infections and frequent flatulence/stomach ache. I was already diagnosed with “hypersensitive brochial system” with ...
16.01.2012
Siblings – yes or no?
Hello, our daughter (CF patient, very good and stable course of illness so far) is now two years old and will start kindergarten in April. We had originally planned to have two or three children. After the diagnosis about two years ago, this was not really an issue for some time. In the ...
12.01.2012
polymorphism
Is there a relationship between the type of polymorphism detected in the patient and severity of cystic fibrosis? Our child has detected delta F508 heterozygous with 7T-9Tpolymorphisms and heterozygous R1070W. Thank you!
02.01.2012
deltaF508 and R1070W study
Our child is compound heterozygous for deltaF508 and R1070W, with minimal clinical manifestations so far (pancreatic sufficiency, without pulmonary complications so far, only episodes of severe dehydration). We found a study (link attached) which refers to the 2 mutations, but I dont understand it ...
03.01.2012
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