The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening

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Presentation transcript:

The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening Patrick Stafler, Meir Mei-Zahav, Michael Wilschanski, Huda Mussaffi, Ori Efrati, Moran Lavie, David Shoseyov, Malena Cohen- Cymberknoh, Michal Gur, Lea Bentur, Galit Livnat, Micha Aviram, Soliman Alkrinawi, Elie Picard, Dario Prais, Guy Steuer, Ori Inbar, Eitan Kerem, Hannah Blau Journal of Cystic Fibrosis Volume 15, Issue 4, Pages 460-466 (July 2016) DOI: 10.1016/j.jcf.2015.08.007 Copyright © 2015 European Cystic Fibrosis Society. Terms and Conditions

Fig. 1 Annual Rate of CF per 100,000 live births, 1990–2011. The figure shows the CF rate per 100,000 live births from the years 1990 to 2011 (y=977.1 — 0.48x; R2=0.6). Data according to National Bureau of Statistics and Ministry of Health. Journal of Cystic Fibrosis 2016 15, 460-466DOI: (10.1016/j.jcf.2015.08.007) Copyright © 2015 European Cystic Fibrosis Society. Terms and Conditions

Fig. 2 a: Population carrier screening uptake in CF families from different ethnic/religious groups. The figure compares the population carrier screening uptake in families of children born with CF from different ethnic/religious groups. Patient data was collected from the 6 Israeli CF centers. b: Ethnic/religious make up of children born with CF compared to the general population, from 2004–2011. The figure compares the ethnic/religious make up of children born with CF from 2004–2011, to the general Israeli population as reported by the Israel Central Bureau of Statistics [14]. Journal of Cystic Fibrosis 2016 15, 460-466DOI: (10.1016/j.jcf.2015.08.007) Copyright © 2015 European Cystic Fibrosis Society. Terms and Conditions

Fig. 3 Clinical features at diagnosis for Israeli children born with CF (n=95). Data for 95 children born with CF in Israel, 2004–2011. When more than one feature was present at diagnosis, all were noted. PsA=Pseudomonas aeruginosa; Resp Sx=respiratory symptoms; FTT=failure to thrive; Mec Ileus=Meconium ileus. Journal of Cystic Fibrosis 2016 15, 460-466DOI: (10.1016/j.jcf.2015.08.007) Copyright © 2015 European Cystic Fibrosis Society. Terms and Conditions