title: The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening.
abstract: Population carrier screening (PCS) has been available in Israel since 1999 and universally subsidized since 2008. We sought to evaluate its impact.
  
  
  
  A retrospective review of governmental databanks, the national CF registry and CF centers.
  
  
  
  CF rate per 100,000 live births has decreased from 14.5 in 1990 to 6 in 2011. From 2004-2011 there were 95 CF births: 22 utilized PCS; 68 (72%) had 2 known CFTR mutations; 37% were pancreatic sufficient. At diagnosis, age was 6 (0-98) months; 53/95 had respiratory symptoms, 41/95 failure to thrive and 19/95 pseudomonas. Thirty-four (36%) were Arabs and 19 (20%) orthodox Jews, compared to 20% and 8% respectively, in the general population.
  
  
  
  PCS markedly reduced CF birth rates with a shift towards milder mutations, but was often avoided for cultural reasons. As children regularly have significant disease at diagnosis, we suggest a balanced approach, utilizing both PCS and newborn screening.
authors.affiliation: Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: pstafler@hotmail.com.
authors.forename: Patrick
authors.initials: P
authors.lastname: Stafler
authors.affiliation: Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Meir
authors.initials: M
authors.lastname: Mei-Zahav
authors.affiliation: Cystic Fibrosis Center, Hadassah-Hebrew University Medical Centre, Jerusalem, Israel.
authors.forename: Michael
authors.initials: M
authors.lastname: Wilschanski
authors.affiliation: Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Huda
authors.initials: H
authors.lastname: Mussaffi
authors.affiliation: Cystic Fibrosis Center, Sheba Medical Center, Tel Aviv, Israel.
authors.forename: Ori
authors.initials: O
authors.lastname: Efrati
authors.affiliation: Cystic Fibrosis Center, Sheba Medical Center, Tel Aviv, Israel.
authors.forename: Moran
authors.initials: M
authors.lastname: Lavie
authors.affiliation: Cystic Fibrosis Center, Hadassah-Hebrew University Medical Centre, Jerusalem, Israel.
authors.forename: David
authors.initials: D
authors.lastname: Shoseyov
authors.affiliation: Cystic Fibrosis Center, Hadassah-Hebrew University Medical Centre, Jerusalem, Israel.
authors.forename: Malena
authors.initials: M
authors.lastname: Cohen-Cymberknoh
authors.affiliation: Cystic Fibrosis Center, Rambam Medical Center, Haifa, Israel.
authors.forename: Michal
authors.initials: M
authors.lastname: Gur
authors.affiliation: Cystic Fibrosis Center, Rambam Medical Center, Haifa, Israel.
authors.forename: Lea
authors.initials: L
authors.lastname: Bentur
authors.affiliation: Cystic Fibrosis Center, Carmel Medical Center, Haifa, Israel.
authors.forename: Galit
authors.initials: G
authors.lastname: Livnat
authors.affiliation: Cystic Fibrosis Center, Soroka Medical Center, Beersheva, Israel.
authors.forename: Micha
authors.initials: M
authors.lastname: Aviram
authors.affiliation: Cystic Fibrosis Center, Soroka Medical Center, Beersheva, Israel.
authors.forename: Soliman
authors.initials: S
authors.lastname: Alkrinawi
authors.affiliation: Cystic Fibrosis Center, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Elie
authors.initials: E
authors.lastname: Picard
authors.affiliation: Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
authors.forename: Dario
authors.initials: D
authors.lastname: Prais
authors.affiliation: Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
authors.forename: Guy
authors.initials: G
authors.lastname: Steuer
authors.affiliation: Cystic Fibrosis Foundation of Israel, Israel.
authors.forename: Ori
authors.initials: O
authors.lastname: Inbar
authors.affiliation: Cystic Fibrosis Center, Hadassah-Hebrew University Medical Centre, Jerusalem, Israel.
authors.forename: Eitan
authors.initials: E
authors.lastname: Kerem
authors.affiliation: Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
authors.forename: Hannah
authors.initials: H
authors.lastname: Blau
mesh_terms: D000328:Adult; D001723:Birth Rate; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005192:Family Health; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods / Q000706:statistics & numerical data; D005817:Genetic Counseling / Q000458:organization & administration; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007557:Israel / Q000453:epidemiology; D008297:Male; D009154:Mutation; D009313:National Health Programs / Q000706:statistics & numerical data; D015997:Neonatal Screening / Q000379:methods / Q000639:trends; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods / Q000639:trends; D018570:Risk Assessment / Q000379:methods
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: Cystic fibrosis; Newborn screening; Population carrier screening