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CF
My little girl is 11 years old. In 2007 we went to Timisoara [Romania], to Dr. Zagorca Popa for CF. It all started at the age of 8 months with celiac disease, followed from the age of 5 by bacterial pneumonias. The genetic test was negative, but the sweat test was positive (68, 58). 5 years have ...
08.07.2013
Mild hyperechogenic bowel
I am 31 years old and did the second level ultrasound. It was concluded that the fetus has a mild hyperechogenic bowel. I was told the same thing for my first child 4 years ago. I had an amniocentesis and the baby was normal. What do you suggest I do?
02.07.2013
Hyperechogenic bowel
I am 30 years old and pregnant with my first child. I had the second level ultrasound and the doctor detected a hyperechogenic bowel. All the tests till now were good, but I was informed that the possibility for Down syndrome had risen from 1/19194 to 1/6398. The doctor said it may not mean ...
02.07.2013
Combination of mutations 5Τ/7Τ/9Τ
I have a three year old son (born premature and hospitalized for 2 weeks without respiratory problems). During my pregnancy I and my husband were checked for 36 CF mutations plus for 5T/7T/9T. I was found to be a carrier of 5T and 7T mutations and my husband of 7T and 9T (at intron 8). We were told ...
24.07.2013
8 year-old girl with aquagenic keratoderma syndrom (follow up)
I asked about your opinion on my 8 year old daughter with Aquagenic keratoderma syndrome that appeared 6 months ago. Sweat test is 26 (performed 2 months ago). We have just received the results of the genetic blood test, which is negative for the 32 CFTR mutations studied in France today. By cons ...
01.07.2013
How likely is the diagnosis of CF?
Hello, I write here as I am nearly turning crazy because of the fear about my newborn daughter. It is like this that she has been born 2 weeks before the calculated birth date via cesarian section, everything looked fine. However, she did not evacuate the meconium. She had an ileus (meconium ...
01.07.2013
FEV1 in mild forms of cystic fibrosis
Hello, Are FEV1 of 100 % after the age of 30, history of frequent bronchitis, immunodeficiency in childhood, rhinitis and chronic sinusitis, and unexplained abdominal pain consistent with a mild form of cystic fibrosis?
19.06.2013
Chorionic villus sampling (CVS)
I would like to know how long I have to wait for a first result after a chorionic villus sampling (CVS) with respect to cystic fibrosis? Many thanks
17.06.2013
Genetic testing of a sibling in spite of negative sweat test?
Dear expert team, we have a daughter at toddler's age suffering from CF as well as a son of 7 years. At the time the diagnosis of CF was made in our daughter, we also had a sweat test done to our son. This test showed a value of 11 mmol/l in the normal range. The sweat test had been performed ...
12.06.2013
Siblings of children with CF
My firstborn child is 16 and visits the doctor just for vaccinations, as does my second born who is 10 years old. Their little brother is 3 years old and has CF. Do they need to be tested? The truth is that just the idea of testing makes me very anxious. The oldest one is in her last year at ...
12.06.2013
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