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

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Abstract

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.

Keywords

Cystic fibrosis
Neonatal screening
Management
Sweat test
Gene analysis

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Cystic Fibrosis Specialists who contributed to the consensus:

Balascakova MiroslavaInstitute of Biology and Medical Genetics, Charles University Prague-2, Czech Republic
Barben JuergChildren's Hospital, St Gallen, Switzerland
Gabriel BellonHopital Debrousse, Lyon, France
Brownlee KeithRegional Paediatric CF Unit, St James University Hospital, Leeds, United Kingdom
Burrows ElinorRoyal Liverpool Children's Hospital, Liverpool, United Kingdom
Bush AndrewRoyal Brompton Hospital, London, United Kingdom
Castellani CarloCystic Fibrosis Center, Azienda Ospedaliera Verona, Piazzale Stefani 1, 37126 Verona, Italy
Corbetta CarloLaboratorio di Riferimento regionale, Ospedale dei Bambini “V. Buzzi”, Milano, Italy
Dankert-Roelse JeannetteAtrium Medical Centre, Department of Pediatrics, Heerlen, The Netherlands
De Boeck KristianeDepartment of Pediatric Pulmonology, University Hospital, Leuven, Belgium
Desai MayaBirmingham Children's Hospital, Birmingham, United Kingdom
Dodge JohnUniversity of Wales, Swansea, United Kingdom
Doull IoloChildren's Hospital for Wales, Cardiff, United Kingdom
Eichler IrmgardCystic Fibrosis Center, University Children's Hospital, Vienna, Austria
Green AnneBirmingham Children's Hospital, Birmingham, United Kingdom
Huet FredericHôpital d'enfants, Dijon and AFDPHE, Paris, France
Holubova AndreaInstitute of Biology and Medical Genetics, Charles University Prague-2, Czech Republic
Iapichino LucianaCentro Regionale Fibrosi Cistica, Palermo, Italy
Lebecque PatrickCliniques St Luc, Université Catholique de Louvain, Brussels, Belgium
Macek MilanInstitute of Biology and Medical Genetics, Charles University Prague-2, Czech Republic
Melotti PaolaCystic Fibrosis Center, Azienda Ospedaliera di Verona, Verona, Italy
Munck AnneHôpital Robert Debré & AFDPHE, Paris, France
Padoan RitaCystic Fibrosis Service, Spedali Civili Brescia, Italy
Quattrucci SerenaDepartment of Paediatrics, University of Rome, Rome, Italy
Reid AlastairRoyal Belfast Hospital for Sick Children, Belfast, UK
Renner SabineCystic Fibrosis Center, University Children's Hospital, Vienna, Austria
Roussey MichelHopital Sud, Rennes and AFDPHE, Paris, France
Satish RaoBirmingham Children's Hospital, Birmingham, United Kingdom
Sands DorotaInstitute of Mother and Child, Warsaw, Poland
Seia ManuelaLaboratorio Genetica Molecolare, Fondazione Policlinico, Mangiagalli, Regina Elena, Milano, Italy
Sermet IsabelleHopital Necker Enfants Malades, Paris, France
Skalicka VeronikaCystic Fibrosis Centre Prague, University Hospital Motol, Prague, Czech Republic
Southern KevinUniversity of Liverpool, Royal Liverpool Children's Hospital, Liverpool, United Kingdom
Schwarz MartinRegional Molecular Genetics Laboratory, St Mary's Hospital, Manchester, United Kingdom
Taylor ChristopherSheffield Children's Hospital, United Kingdom
Taccetti GiovanniCystic Fibrosis Centre, Meyer Hospital, Florence, Italy
Tiddens HarmDept. Pediatric Pulmonology , Erasmus MC/Sophia children's Hospital, Rotterdam, Netherlands
Tümmler BurkhardKlinische Forschergruppe, Medizinische Hochschule, Hannover, Germany
Vavrova VeraDepartment of Pediatrics, Charles Univ. Prague-2, School of Medicine, Czech Republic
Votava FelixDepartment of Pediatrics, Charles Univ. Prague-3, School of Medicine, Czech Republic
Weller PeterBirmingham Children's Hospital, Birmingham, United Kingdom
Wilschanski MichaelHadassah University Hospital, Jerusalem, Israel