Query for testing

Question

My daughter is 10.5 months old, weighs 9.2 kgr and is 77 cm tall. Her growth up till now has been always good. Her bowel movements are regular throughout the day. I have not observed anything special as far as smell or quantity is concerned. Since 3 weeks my daughter has a cold and wet cough that persists despite the antibiotics.
I am worried because my husband is a carrier of a CF mutation. I was tested for 95% of the CF mutations with negative results. I am aware of the fact that I may carry a mutation that belongs to the rest of 5%, or a mutation that is not detectable. Do you think it is wise for the child to do a sweat test or other tests, or should I wait and monitor the child’s symptoms?
I gave birth at a public hospital (Areteio) where the IRT test is not performed. I was not aware that this test is performed in private hospitals, so I did not keep any of the child’s blood for testing it in a private laboratory. Should not this kind of testing be compulsory for all hospitals, public ones included? I chose to give birth in a public hospital because I trust the doctors and not due to money issues. I now feel guilty because my child did not have an important test. Should not this testing be expanded to include all hospitals?

Answer

Dear friend
You have a baby girl, aged 10.5 months who is growing well, as far as weight and height are concerned, without any particular problems from the peptic system and without pancreatic insufficiency. You husband is a carrier of a CF mutation and you have been tested for 95% of the CF mutations with negative results.
The possibility for your daughter to have CF is very very small and is estimated to be 1:1924 (Milunski 1998, Wilford et Fost, Jama 1990, 2777-2783).
As far as the IRT test during the neonatal Screening is concerned, there have been unsuccessful attempts in the past.
I hope that this will soon be achieved due to the increasing capability to diagnose through neonatal screening more diseases in Greece.
I believe that your child does not suffer from CF, but in the normal course of things she will present such symptoms again in the future, and you will worry again.
For this reason and for you to get rid of your anxiety, since you have taken such an interest for CF, you can come to the CF Center of the “Aghia Sofia” Hospital and get a sweat test done to your child. You can contact me for an appointment.
Yours friendly,
Dr. Stavros Doudounakis

27.01.2014