The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening
| Autor: | Moran Lavie, Dario Prais, Guy Steuer, Ori Inbar, Soliman Alkrinawi, Malena Cohen-Cymberknoh, Michael Wilschanski, Patrick Stafler, Hannah Blau, Elie Picard, Galit Livnat, Michal Gur, David Shoseyov, Meir Mei-Zahav, Lea Bentur, Huda Mussaffi, Micha Aviram, Ori Efrati, Eitan Kerem |
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| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Pulmonary and Respiratory Medicine Adult Male Pediatrics medicine.medical_specialty Cystic Fibrosis National Health Programs Population Age at diagnosis Cystic Fibrosis Transmembrane Conductance Regulator Genetic Counseling Disease 030105 genetics & heredity Cystic fibrosis Risk Assessment Birth rate 03 medical and health sciences 0302 clinical medicine Neonatal Screening Pregnancy Prenatal Diagnosis medicine Humans 030212 general & internal medicine Israel education Birth Rate Family Health education.field_of_study Newborn screening business.industry Genetic Carrier Screening Infant Newborn Infant medicine.disease Pediatrics Perinatology and Child Health Failure to thrive Mutation Female medicine.symptom Carrier screening business |
| Zdroj: | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society. 15(4) |
| ISSN: | 1873-5010 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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