TY - JOUR
T1 - The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis
T2 - Implications for newborn screening
AU - Stafler, Patrick
AU - Mei-Zahav, Meir
AU - Wilschanski, Michael
AU - Mussaffi, Huda
AU - Efrati, Ori
AU - Lavie, Moran
AU - Shoseyov, David
AU - Cohen-Cymberknoh, Malena
AU - Gur, Michal
AU - Bentur, Lea
AU - Livnat, Galit
AU - Aviram, Micha
AU - Alkrinawi, Soliman
AU - Picard, Elie
AU - Prais, Dario
AU - Steuer, Guy
AU - Inbar, Ori
AU - Kerem, Eitan
AU - Blau, Hannah
N1 - Publisher Copyright:
© 2015 European Cystic Fibrosis Society.
PY - 2016/7/1
Y1 - 2016/7/1
N2 - 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.
AB - 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.
KW - Cystic fibrosis
KW - Newborn screening
KW - Population carrier screening
UR - https://www.scopus.com/pages/publications/84941795843
U2 - 10.1016/j.jcf.2015.08.007
DO - 10.1016/j.jcf.2015.08.007
M3 - Article
C2 - 26386752
AN - SCOPUS:84941795843
SN - 1569-1993
VL - 15
SP - 460
EP - 466
JO - Journal of Cystic Fibrosis
JF - Journal of Cystic Fibrosis
IS - 4
ER -
