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.
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.
Balascaková
Miroslava
M
Department of Biology and Medical Genetics, Cystic Fibrosis Centre 2nd Medical School and Faculty Hospital Motol, Charles University, Prague, Czech Republic.
Holubová
Andrea
A
Skalická
Veronika
V
Zemková
Dana
D
Kracmar
Petr
P
Gonsorcíkova
Lucie
L
Camajová
Jana
J
Piskácková
Tereza
T
Lebl
Jan
J
Drevínek
Pavel
P
Gregor
Vladimír
V
Vávrová
Vera
V
Votava
Felix
F
Macek
Milan
M
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
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator