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

• Published in: Journal of cystic fibrosis 2016-07, Vol.15 (4), p.460-466
• Main Authors: Stafler, Patrick, Mei-Zahav, Meir, Wilschanski, Michael, Mussaffi, Huda, Efrati, Ori, Lavie, Moran, Shoseyov, David, Cohen-Cymberknoh, Malena, Gur, Michal, Bentur, Lea, Livnat, Galit, Aviram, Micha, Alkrinawi, Soliman, Picard, Elie, Prais, Dario, Steuer, Guy, Inbar, Ori, Kerem, Eitan, Blau, Hannah
• Format: Article
• Language: English
• Subjects: Adult; Birth Rate; Cystic fibrosis; Cystic Fibrosis - diagnosis; Cystic Fibrosis - ethnology; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Family Health; Female; Genetic Carrier Screening - methods; Genetic Carrier Screening - statistics & numerical data; Genetic Counseling - organization & administration; Humans; Infant; Infant, Newborn; Israel - epidemiology; Male; Mutation; National Health Programs - statistics & numerical data; Neonatal Screening - methods; Neonatal Screening - trends; Newborn screening; Population carrier screening; Pregnancy; Prenatal Diagnosis - methods; Prenatal Diagnosis - trends; Pulmonary/Respiratory; Risk Assessment - methods
• ISSN: 1569-1993; 1873-5010
• DOI: 10.1016/j.jcf.2015.08.007

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.