Review article

SIGNIFICANCE OF NEONATAL SCREENING FOR CYSTIC FIBROSIS

Dorian Tješić-Drinković
Ruža Grizelj
Duška Tješić-Drinković
Jadranka Kelečić
Alenka Gagro
Jasmina Vraneš
Jadranka Sertić

Abstract

Cystic fibrosis is among Caucasians the most common lethal autosomal recessive inherited disease. Diagnosis is based on meeting the criteria published as an expert consensus. Neonatal screening is one of the mentioned criteria. The number of children diagnosed with cystic fibrosis through neonatal screening is increasing throughout the world, but is not performed in Croatia. Early identification of these patients carries some advantages and some risks, posing new challenges for health workers. The most pronounced advantage is better growth and cognitive potentials for screened children, as well as less complications arising from malnutrition. Benefits regarding preservation of lung function are more controversial. Detection of patients through screening programs often means early exposure to Pseudomonas infections due to contacts with other CF patients in specialized centers. Recognizing potential advantages and risks of neonatal screening programs for CF brings new knowledge not only for individual patients and their families, but for the entire community.

Keywords

cystic fibrosis; neonatal screening

Hrčak ID:

15808

URI

https://hrcak.srce.hr/15808

Publication date:

1.3.2006.

Article data in other languages: croatian

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