A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis

التفاصيل البيبلوغرافية
العنوان: A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis
المؤلفون: Mayell, S. J., Munck, A., Craig, J. V., Sermet, I., Brownlee, K. G., Schwarz, M. J., Castellani, C., Southern, K. W., Working Group Balascakova, European Cystic Fibrosis Society Neonatal Screening M., Barben, J., Gabriel, B., Brownlee, K., Burrows, E., Bush, A., Corbetta, C., Dankert Roelse, J., De Boeck, K., Desai, M., Dodge, J., Doull, I., Eichler, I., Green, A., Huet, F., Holubova, A., Iapichino, L., Lebecque, P., Macek, M., Melotti, P., Padoan, R., Quattrucci, Serena, Reid, A., Renner, S., Roussey, M., Satish, R., Sands, D., Seia, M., Skalicka, V., Southern, K., Schwarz, M., Taylor, C., Taccetti, G., Tiddens, H., Tummler, B., Vavrova, V., Votava, F., Weller, P., Wilschanski, M.
المصدر: Journal of Cystic Fibrosis. 8:71-78
بيانات النشر: Elsevier BV, 2009.
سنة النشر: 2009
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Pediatrics, Cystic Fibrosis, education, Modified delphi, MEDLINE, Cystic Fibrosis Transmembrane Conductance Regulator, cystic fibrosis, gene analysis, management, neonatal screening, sweat test, Sodium Chloride, Cystic fibrosis, Neonatal Screening, Gene analysis, medicine, Humans, Pediatrics, Perinatology, and Child Health, Genetic Testing, Sweat, Sweat test, Genetic testing, Newborn screening, medicine.diagnostic_test, Sweat testing, business.industry, Infant, Newborn, medicine.disease, Infant newborn, Management, Family medicine, Mutation, Pediatrics, Perinatology and Child Health, business
الوصف: Screening newborns for cystic fibrosis (CF) is considered to be an ethical undertaking in regions with a significant incidence of the condition. Current screening protocols result in recognition of infants with an equivocal diagnosis. A survey of European practice suggested inconsistencies in the evaluation and management of these infants.We have undertaken a consensus process using a modified Delphi method. This has enabled input of CF specialists from a wide geographical area to a rigorous process that has provided a clear pathway to a consensus statement. A core group produced 21 statements, which were modified over a series of three rounds (including a meeting arranged at the European CF Conference). A final document of 19 statements was produced, all of which achieved a satisfactory level of consensus. The statements cover four themes; sweat testing, further assessments and investigations, review arrangements and database.This consensus document will provide guidance to CF specialists with established screening programmes and those who are in the process of implementing newborn screening in their region.
تدمد: 1569-1993
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1506402b50d0c50d9353a3ba30896f75
https://doi.org/10.1016/j.jcf.2008.09.005
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....1506402b50d0c50d9353a3ba30896f75
قاعدة البيانات: OpenAIRE