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Review
. 2020 Mar 25;6(2):25.
doi: 10.3390/ijns6020025. eCollection 2020 Jun.

Processing Newborn Bloodspot Screening Results for CF

Jürg Barben  1 , Jane Chudleigh  2
Affiliations
Review

Processing Newborn Bloodspot Screening Results for CF

Jürg Barben et al. Int J Neonatal Screen. .

Abstract

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.

Keywords: cystic fibrosis; newborn screening; parental information; presumptive diagnosis; sweat test.

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Conflict of interest statement

Conflicts of InterestThe authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Adapted from reference [12] An algorithm for the designation of infants following a positive newborn bloodspot screening (NBS) result. (CF, cystic fibrosis; CFTR, CF transmembrane conductance regulator (gene); CRMS, CFTR-related metabolic syndrome; CFSPID, CF screen positive, inconclusive diagnosis; CRMS/CFSPID, harmonised definition). * Characterised by the CFTR2 website. ** If two CF causing mutations are present, a repetition of a sweat test is not necessary, but the parents should be genetically tested to exclude the presence of variants in the cis form.
Figure 2
Figure 2
Diagnostic algorithm after a positive NBS result in the CF centre. * According to the CFTR2 website. ** Infants at this point have a presumptive diagnosis of CF and treatment should be established. Further testing is required to consolidate the diagnosis.
See this image and copyright information in PMC

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