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How likely is the diagnosis of CF?

Question
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 clot), had to have an irrigation in order that it came out.
Due to this, the doctors' suspicion of cystic fibrosis aroused. Blood for this screening (the special one for CF) has been sent to Heidelberg [Germany], which has fortunately been without pathological finding. Furthermore, the pancreatic elastase has been measured, the value was 146. However, my daughter was at that time only 2 weeks old, not 4 weeks old (and she has been born 2 weeks too early). Now we still should go to have a sweat test. However, this date is still far away and I do not stand this insecurity.
My daughter gains weight well, drinks well and has regular bowel movements since the meconium was evacuated. She has been born 3 weeks ago with 2150 grams, lost weight on 2080 grams and weighs now already again 2720 grams.
I know that you can not make a diagnosis, but can you give a judgment how likely you consider it that she suffers from CF?
Best regards,
M.
Answer
Hello,
every newborn with a meconium ileus should be checked for CF, as a meconium ileus or a meconium clot could be a first hint for the illness. Mostly a molecular genetic investigation is performed for this, as soon as possible then a sweat test.
Due to the irrigation, the meconium came loose in your daughter according to your description. The newborn screening for CF in Heidelberg has been negative. The pancreatic elastase for this age has not been in the typical range for CF-children (with a hypofunction of the pancreas), thus has been normal. The weight gain is good. These are all signs, that speak against the illness of CF.
However, crucial for the diagnosis is the sweat test, that has to be performed immediately. Also a genetic investigation is helpful, especially if not enough sweat can be obtained in the frame of the sweat test.
I wish you all the best,
Best regards,
Dr. Helmut Ellemunter
01.07.2013
*) Sweat test
It has to be emphasized that the sweat test has to be performed in an experienced center according to existing guidelines.