Patrick Stafler1, Meir Mei-Zahav2, Michael Wilschanski3, Huda Mussaffi2, Ori Efrati4, Moran Lavie4, David Shoseyov3, Malena Cohen-Cymberknoh3, Michal Gur5, Lea Bentur5, Galit Livnat6, Micha Aviram7, Soliman Alkrinawi7, Elie Picard8, Dario Prais9, Guy Steuer9, Ori Inbar10, Eitan Kerem3, Hannah Blau9. 1. 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. 2. 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. 3. Cystic Fibrosis Center, Hadassah-Hebrew University Medical Centre, Jerusalem, Israel. 4. Cystic Fibrosis Center, Sheba Medical Center, Tel Aviv, Israel. 5. Cystic Fibrosis Center, Rambam Medical Center, Haifa, Israel. 6. Cystic Fibrosis Center, Carmel Medical Center, Haifa, Israel. 7. Cystic Fibrosis Center, Soroka Medical Center, Beersheva, Israel. 8. Cystic Fibrosis Center, Shaare Zedek Medical Center, Jerusalem, Israel. 9. Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel. 10. Cystic Fibrosis Foundation of Israel, Israel.
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.
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.
Authors: Scott C Bell; Marcus A Mall; Hector Gutierrez; Milan Macek; Susan Madge; Jane C Davies; Pierre-Régis Burgel; Elizabeth Tullis; Claudio Castaños; Carlo Castellani; Catherine A Byrnes; Fiona Cathcart; Sanjay H Chotirmall; Rebecca Cosgriff; Irmgard Eichler; Isabelle Fajac; Christopher H Goss; Pavel Drevinek; Philip M Farrell; Anna M Gravelle; Trudy Havermans; Nicole Mayer-Hamblett; Nataliya Kashirskaya; Eitan Kerem; Joseph L Mathew; Edward F McKone; Lutz Naehrlich; Samya Z Nasr; Gabriela R Oates; Ciaran O'Neill; Ulrike Pypops; Karen S Raraigh; Steven M Rowe; Kevin W Southern; Sheila Sivam; Anne L Stephenson; Marco Zampoli; Felix Ratjen Journal: Lancet Respir Med Date: 2019-09-27 Impact factor: 30.700
Authors: Doron M Behar; Ori Inbar; Michal Shteinberg; Michal Gur; Huda Mussaffi; David Shoseyov; Moshe Ashkenazi; Soliman Alkrinawi; Concetta Bormans; Fahed Hakim; Meir Mei-Zahav; Malena Cohen-Cymberknoh; Adi Dagan; Dario Prais; Ifat Sarouk; Patrick Stafler; Bat El Bar Aluma; Gidon Akler; Elie Picard; Micha Aviram; Ori Efrati; Galit Livnat; Joseph Rivlin; Lea Bentur; Hannah Blau; Eitan Kerem; Amihood Singer Journal: Mol Genet Genomic Med Date: 2017-02-19 Impact factor: 2.183