Baixa´t el llibret de les Jornades 2007 - Gemma Rossell i Romero

Premi de Recerca per a estudiants Gemma Rosell i Romero 2007
Results:
From the total of screened newborns, DNA analysis was performed
only in the 1.13% which corresponds to the IRT positive cases. In all these
cases two CFTR mutations were detected, confirming the diagnosis of CF
afterwards. Moreover, in the cases where only 1 CFTR mutation was found,
the ST performed helped to give a negative diagnosis of CF. In the cases of
heterozygosity for a CFTR mutation, genetic counselling was performed.
Conclusions:
The first results of this project show that the incidence of CF is lower
than expected. However this might be a consequence of the low number of
neonates screened. Moreover the spread of both prenatal and neonatal
screening of CF in the Czech Republic has lead to a lower incidence of the
disease. Overall the neonatal screening of CF proves to be an extremely
useful tool for the control of CF.
My contribution to the project:
My participation in this project was a part of my stay in Motol Hospital
in Prague as a part of my IFMSA exchange. During my stay in the Cystic
Fibrosis Centre I helped in the preparation of samples for the PCR and took
part in the discussion of the results of the PCRs and sequencing of samples
from patients.
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