Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition

Anne Munck; Kevin W. Southern; Jared Murphy; Karin M. de Winter-de Groot; Silvia Gartner; Bülent Karadag; Nataliya Kashirskaya; Barry Linnane; Marijke Proesmans; Dorota Sands; Olaf Sommerburg; Carlo Castellani; Jürg Barben

doi:10.3390/ijns9040065

International Journal of Neonatal Screening (Nov 2023)

Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition

Anne Munck,
Kevin W. Southern,
Jared Murphy,
Karin M. de Winter-de Groot,
Silvia Gartner,
Bülent Karadag,
Nataliya Kashirskaya,
Barry Linnane,
Marijke Proesmans,
Dorota Sands,
Olaf Sommerburg,
Carlo Castellani,
Jürg Barben

Affiliations

Anne Munck: Hospital Necker Enfants-Malades, AP-HP, CF Centre, University Paris Descartes, 75015 Paris, France
Kevin W. Southern: Department of Women’s and Children’s Health, University of Liverpool, Liverpool L69 3BX, UK
Jared Murphy: Department of Women’s and Children’s Health, University of Liverpool, Liverpool L69 3BX, UK
Karin M. de Winter-de Groot: Department of Paediatric Pulmonology & Allergology, Wilhelmina Children’s Hospital, University Medical Centre Utrecht, Utrecht University, 3508 AB Utrecht, The Netherlands
Silvia Gartner: Pediatric Pulmonology and Cystic Fibrosis Unit, Hospital Universitari Vall d’Hebron, 08035 Barcelona, Spain
Bülent Karadag: Department of Pediatric Pulmonology, Marmara University, 34890 Istanbul, Turkey
Nataliya Kashirskaya: Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow Regional Research and Clinical Institute, Moscow 115522, Russia
Barry Linnane: School of Medicine and Centre for Interventions in Infection, Inflammation & Immunity (4i), University of Limerick, V94 T9PX Limerick, Ireland
Marijke Proesmans: Division of Woman and Child, Department of Pediatrics, University Hospitals Leuven, 3000 Leuven, Belgium
Dorota Sands: Cystic Fibrosis Department, Institute of Mother and Child, 01-211 Warsaw, Poland
Olaf Sommerburg: Paediatric Pulmonology, Allergology & CF Centre, Department of Paediatrics III, University Hospital Heidelberg, 69120 Heidelberg, Germany
Carlo Castellani: Cystic Fibrosis Center, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy
Jürg Barben: Paediatric Pulmonology & CF Centre, Children’s Hospital of Eastern Switzerland, 9000 St. Gallen, Switzerland

DOI: https://doi.org/10.3390/ijns9040065
Journal volume & issue: Vol. 9, no. 4
p. 65

Abstract

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Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison. The ECFS Neonatal Screening Working Group defined missed cases by NBS as either false negatives, protocol-related, concerning analytical issues, or non-protocol-related, concerning pre- and post-analytical issues. A questionnaire has been designed and sent to all key workers identified in each NBS programme to assess the feasibility of collecting data on missed cases, the stage of the NBS programme when the system failed, and individual patient data on each missed case.

Published in International Journal of Neonatal Screening

ISSN: 2409-515X (Online)
Publisher: MDPI AG
Country of publisher: Switzerland
LCC subjects: Medicine: Pediatrics
Website: https://www.mdpi.com/journal/ijns

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