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
Jazyk angličtina Země Nizozemsko Médium print-electronic
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
19208501
DOI
10.1016/j.jcf.2009.01.002
PII: S1569-1993(09)00004-6
Knihovny.cz E-zdroje
- MeSH
- časná diagnóza MeSH
- cystická fibróza diagnóza epidemiologie genetika MeSH
- genetické testování metody MeSH
- incidence MeSH
- kojenec MeSH
- lidé MeSH
- novorozenec MeSH
- novorozenecký screening metody organizace a řízení MeSH
- organizační modely MeSH
- pilotní projekty MeSH
- protein CFTR genetika MeSH
- ultrasonografie prenatální MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika epidemiologie MeSH
- Názvy látek
- CFTR protein, human MeSH Prohlížeč
- protein CFTR MeSH
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.
Citace poskytuje Crossref.org
