Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition
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 fals...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-11-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/9/4/65 |
| _version_ | 1827574646709420032 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Anne Munck |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T20:41:08Z |
| format | Article |
| id | doaj.art-b5f12209c8cb410c8b86b75d266ab8ce |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-08T20:41:08Z |
| publishDate | 2023-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-b5f12209c8cb410c8b86b75d266ab8ce2023-12-22T14:15:29ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2023-11-01946510.3390/ijns9040065Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data AcquisitionAnne Munck0Kevin W. Southern1Jared Murphy2Karin M. de Winter-de Groot3Silvia Gartner4Bülent Karadag5Nataliya Kashirskaya6Barry Linnane7Marijke Proesmans8Dorota Sands9Olaf Sommerburg10Carlo Castellani11Jürg Barben12Hospital Necker Enfants-Malades, AP-HP, CF Centre, University Paris Descartes, 75015 Paris, FranceDepartment of Women’s and Children’s Health, University of Liverpool, Liverpool L69 3BX, UKDepartment of Women’s and Children’s Health, University of Liverpool, Liverpool L69 3BX, UKDepartment of Paediatric Pulmonology & Allergology, Wilhelmina Children’s Hospital, University Medical Centre Utrecht, Utrecht University, 3508 AB Utrecht, The NetherlandsPediatric Pulmonology and Cystic Fibrosis Unit, Hospital Universitari Vall d’Hebron, 08035 Barcelona, SpainDepartment of Pediatric Pulmonology, Marmara University, 34890 Istanbul, TurkeyLaboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow Regional Research and Clinical Institute, Moscow 115522, RussiaSchool of Medicine and Centre for Interventions in Infection, Inflammation & Immunity (4i), University of Limerick, V94 T9PX Limerick, IrelandDivision of Woman and Child, Department of Pediatrics, University Hospitals Leuven, 3000 Leuven, BelgiumCystic Fibrosis Department, Institute of Mother and Child, 01-211 Warsaw, PolandPaediatric Pulmonology, Allergology & CF Centre, Department of Paediatrics III, University Hospital Heidelberg, 69120 Heidelberg, GermanyCystic Fibrosis Center, IRCCS Istituto Giannina Gaslini, 16147 Genova, ItalyPaediatric Pulmonology & CF Centre, Children’s Hospital of Eastern Switzerland, 9000 St. Gallen, SwitzerlandRepeated 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.https://www.mdpi.com/2409-515X/9/4/65cystic fibrosisnewborn screeningevaluationsensitivityfalse negativesmissed cases |
| spellingShingle | 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 Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition International Journal of Neonatal Screening cystic fibrosis newborn screening evaluation sensitivity false negatives missed cases |
| title | Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition |
| title_full | Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition |
| title_fullStr | Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition |
| title_full_unstemmed | Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition |
| title_short | Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition |
| title_sort | cystic fibrosis cases missed by newborn bloodspot screening towards a consistent definition and data acquisition |
| topic | cystic fibrosis newborn screening evaluation sensitivity false negatives missed cases |
| url | https://www.mdpi.com/2409-515X/9/4/65 |
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