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

Research output: Contribution to journalArticlepeer-review

Abstract

Background Population carrier screening (PCS) has been available in Israel since 1999 and universally subsidized since 2008. We sought to evaluate its impact. Methods A retrospective review of governmental databanks, the national CF registry and CF centers. Results 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. Conclusions 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.

Original languageEnglish
Pages (from-to)460-466
Number of pages7
JournalJournal of Cystic Fibrosis
Volume15
Issue number4
DOIs
StatePublished - 1 Jul 2016

Keywords

  • Cystic fibrosis
  • Newborn screening
  • Population carrier screening

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