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

Result code in 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>

Result on the web

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DOI - Digital Object Identifier

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Result language

čeština

Original language name

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

Original language description

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.

Czech name

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

Czech description

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.

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

<a href="/en/project/NS9986" target="_blank" >NS9986: Optimalization of newborn screening of cystic fibrosis</a><br>

Continuities

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

Publication year

2009

Confidentiality

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

Name of the periodical

Journal of Cystic Fibrosis

ISSN

1569-1993

e-ISSN

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Volume of the periodical

8

Issue of the periodical within the volume

3

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

4

Pages from-to

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UT code for WoS article

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EID of the result in the Scopus database

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