About: 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

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About: 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 Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	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. (en) 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. 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. (cs)
Title	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 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 (en) 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 (cs)
skos:prefLabel	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 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 (en) 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 (cs)
skos:notation	RIV/00064173:_____/09:#0000025!RIV10-MZ0-00064173
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NS9986), Z(MSM0021620814)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Votava, Felix Kračmar, Petr
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice Královské Vinohrady
http://linked.open...dnocenehoVysledku	333486
http://linked.open...ai/riv/idVysledku	RIV/00064173:_____/09:#0000025
http://linked.open...riv/jazykVysledku	cze - čeština
http://linked.open.../riv/klicovaSlova	CF carriers, CFTR gene, cystic fibrosis (OMIM 219700), decentralisation of health care, DNA testing, incidence, immunoreactive trypsinogen, newborn screening, prenatal diagnosis (en)
http://linked.open.../riv/klicoveSlovo	CF carriers cystic fibrosis (OMIM 219700) decentralisation of health care DNA testing immunoreactive trypsinogen incidence prenatal diagnosis CFTR gene newborn screening
http://linked.open...odStatuVydavatele	NL - Nizozemsko
http://linked.open...ontrolniKodProRIV	[341F37EC52A9]
http://linked.open...i/riv/nazevZdroje	Journal of Cystic Fibrosis
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	14 (xsd:int)
http://linked.open...vavai/riv/projekt	Optimalization of newborn screening of cystic fibrosis
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	8
http://linked.open...iv/tvurceVysledku	Votava, Felix Zemková, D. Skalická, V. Kráčmar, Petr Balaščáková, M. Holubová, A.
http://linked.open...n/vavai/riv/zamer	Prevention, diagnostics and therapy of diabetes mellitus, metabolic and endocrine damage of organism
issn	1569-1993
number of pages	4 (xsd:int)

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