title: Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease.
abstract: The objective need for cystic fibrosis (CF) newborn screening (NBS) in the Czech Republic has recently been substantiated by a significant delay of its symptomatic diagnosis. This trend most likely resulted from the process of decentralisation of health care which led to the deterioration of care for patients who need specialised approaches. Applied newborn screening model (IRT/DNA/IRT) was efficacious enough to detect CF cases with median age at diagnosis of 37 days. The incidence of CF (1 in 6946 live births) ascertained in this project was lower than that established previously by epidemiological studies (1 in 2700-1 in 3300). However, adjustment for broadly applied ultrasound-based prenatal diagnosis (PND) in the 2nd trimester of pregnancy, that was performed within the period of the project (1/2/2005-2/11/2006), rendered an incidence estimate of 1 in 4023. This value is closer to that observed in other CF NBS programmes and reflects influence of PND on the incidence of CF.
authors.affiliation: Department of Biology and Medical Genetics, Cystic Fibrosis Centre 2nd Medical School and Faculty Hospital Motol, Charles University, Prague, Czech Republic.
authors.forename: Miroslava
authors.initials: M
authors.lastname: Balascaková
authors.forename: Andrea
authors.initials: A
authors.lastname: Holubová
authors.forename: Veronika
authors.initials: V
authors.lastname: Skalická
authors.forename: Dana
authors.initials: D
authors.lastname: Zemková
authors.forename: Petr
authors.initials: P
authors.lastname: Kracmar
authors.forename: Lucie
authors.initials: L
authors.lastname: Gonsorcíkova
authors.forename: Jana
authors.initials: J
authors.lastname: Camajová
authors.forename: Tereza
authors.initials: T
authors.lastname: Piskácková
authors.forename: Jan
authors.initials: J
authors.lastname: Lebl
authors.forename: Pavel
authors.initials: P
authors.lastname: Drevínek
authors.forename: Vladimír
authors.initials: V
authors.lastname: Gregor
authors.forename: Vera
authors.initials: V
authors.lastname: Vávrová
authors.forename: Felix
authors.initials: F
authors.lastname: Votava
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D018153:Czech Republic / Q000453:epidemiology; D042241:Early Diagnosis; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D017146:Models, Organizational; D015997:Neonatal Screening / Q000379:methods* / Q000458:organization & administration; D010865:Pilot Projects; D016216:Ultrasonography, Prenatal
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator