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Processing newborn bloodspot screening results for CF

Barben, J. & Chudleigh, J. H. ORCID: 0000-0002-7334-8708 (2020). Processing newborn bloodspot screening results for CF. International Journal of Neonatal Screening, 6(2), article number 25. doi: 10.3390/ijns6020025


Every newborn bloodspot screening (NBS) result for cystic fibrosis (CF) consists of two parts: a screening part in the laboratory and a clinical part in a CF centre. When introducing an NBS programme, more attention is usually paid to the laboratory part, especially which algorithm is most suitable for the region or the country. However, the clinical part, how a positive screening result is processed, is often underestimated and can have great consequences for the affected child and their parents. A clear algorithm for the diagnostic part in CF centres is also important and influences the performance of a CF NBS programme. The processing of a positive screening result includes the initial information given to the parents, the invitation to the sweat test, what to do if a sweat test fails, information about the results of the sweat test, the inconclusive diagnosis and the carrier status, which is handled differently from country to country. The time until the definitive diagnosis and adequate information is given, is considered by the parents and the CF team as the most important factor. The communication of a positive NBS result is crucial. It is not a singular event but rather a process that includes ensuring the appropriate clinicians are aware of the result and that families are informed in the most efficient and effective manner to facilitate consistent and timely follow-up.

Publication Type: Article
Additional Information: © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (
Publisher Keywords: cystic fibrosis; newborn screening; presumptive diagnosis; sweat test; parental information
Subjects: R Medicine > RC Internal medicine
R Medicine > RG Gynecology and obstetrics
R Medicine > RT Nursing
Departments: School of Health & Psychological Sciences > Nursing
SWORD Depositor:
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