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The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

Processing Newborn Bloodspot Screening Results for CF

Division of Paediatric Pulmonology & CF Centre, Children’s Hospital of Eastern Switzerland, 9006 St. Gallen, Switzerland
School of Health Sciences, City, University of London, London EC1V 0HB, UK
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(2), 25;
Received: 6 March 2020 / Revised: 21 March 2020 / Accepted: 23 March 2020 / Published: 25 March 2020
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
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. View Full-Text
Keywords: cystic fibrosis; newborn screening; presumptive diagnosis; sweat test; parental information cystic fibrosis; newborn screening; presumptive diagnosis; sweat test; parental information
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MDPI and ACS Style

Barben, J.; Chudleigh, J. Processing Newborn Bloodspot Screening Results for CF. Int. J. Neonatal Screen. 2020, 6, 25.

AMA Style

Barben J, Chudleigh J. Processing Newborn Bloodspot Screening Results for CF. International Journal of Neonatal Screening. 2020; 6(2):25.

Chicago/Turabian Style

Barben, Jürg, and Jane Chudleigh. 2020. "Processing Newborn Bloodspot Screening Results for CF" International Journal of Neonatal Screening 6, no. 2: 25.

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