Pilot newborn screening project for cystic fibrosis in the Czech Republik: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064173%3A_____%2F09%3A%230000025" target="_blank" >RIV/00064173:_____/09:#0000025 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

čeština

Název v původním jazyce

Pilot newborn screening project for cystic fibrosis in the Czech Republik: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease

Popis výsledku v původním jazyce

The objective need for cystic fibrosis (CF)newborn screening (NBS) in the Czech Republic has recently been substantiated by a significant delay of itssymptomatic 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 newbornscreening model (IRT/DNA/IRT) was efficacious enough to detect CF cases with median age at diagnosis of 37 days. The incidence of CF (1in 6946 live births) ascertained in this project was lower than that established previosly by epidemiological studies( 1 in 2700-1in 3300). However, adjustment for broadly applied ultrasound-based prenatal diagnosis (PND) in the2nd trimester of pregnancy, that was performed within in period of the project(1/2/2005-2/11/2006), rendered in incidence estimate of 1 in 4023. This value is closer to that observed in other CF NBS programmes and reflects influance of PND on the incidence of CF.

Název v anglickém jazyce

Pilot newborn screening project for cystic fibrosis in the Czech Republik: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease

Popis výsledku anglicky

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 newbornscreening model (IRT/DNA/IRT) was efficacious enough to detect CF cases with median age at diagnosis of 37 days. The incidence of CF (1in 6946 live births) ascertained in this project was lower than that established previosly by epidemiological studies( 1 in 2700-1in 3300). However, adjustment for broadly applied ultrasound-based prenatal diagnosis (PND) in the2nd trimester of pregnancy, that was performed within in period of the project(1/2/2005-2/11/2006), rendered in incidence estimate of 1 in 4023. This value is closer to that observed in other CF NBS programmes and reflects influance of PND on the incidence of CF.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

<a href="/cs/project/NS9986" target="_blank" >NS9986: Optimalizace novorozeneckého screeningu cystické fibrózy.</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2009

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Cystic Fibrosis

ISSN

1569-1993

e-ISSN

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Svazek periodika

8

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

4

Strana od-do

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Kód UT WoS článku

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EID výsledku v databázi Scopus

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