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Review
. 2020 Mar 12;6(1):19.
doi: 10.3390/ijns6010019. eCollection 2020 Mar.

Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis

Anne Munck  1
Affiliations
Review

Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis

Anne Munck. Int J Neonatal Screen. .

Abstract

An unintended consequence of newborn screening for cystic fibrosis (CF) is the identification of infants with a positive screening test but an inconclusive diagnostic testing. These infants are designated as CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US and CF screen-positive, inconclusive diagnosis (CFSPID) in Europe. Recently, experts agreed on a unified international definition of CRMS/CFSPID which will improve our knowledge on the epidemiology and outcomes of these infants and optimize comparisons between cohorts. Many of these children will remain free of symptoms, but a number may develop clinical features suggestive of CFTR-related disorder (CFTR-RD) or CF later in life. Clinicians should to be prepared to identify these infants and communicate with parents about this challenging and stressful situation for both healthcare professionals and families. In this review, we present the recent publications on infants designated as CRMS/CFSPID, including the definition, the incidence across Europe, the assessment of the CFTR protein function, the outcomes with the rates of conversion to a final diagnosis of CF and their management.

Keywords: CF screen positive; CF transmembrane conductance regulator-related metabolic syndrome; cystic fibrosis; inconclusive diagnosis; newborn screening.

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Conflict of interest statement

Conflicts of InterestThe author declares no conflict of interest.

Figures

Figure 1
Figure 1
An algorithm for the designation of infants, following the positive newborn screening (NBS) result [9]. CF: Cystic fibrosis, CFTR: CF transmembrane conductance regulator (gene), CFMS: CFTR-related metabolic syndrome, CFSPID: CF screen-positive, inconclusive diagnosis.
See this image and copyright information in PMC

References

    1. Dijk F.N., Fitzgerald D.A. The impact of newborn screening and earlier intervention on the clinical course of cystic fibrosis. Paediatr. Respir. Rev. 2012;13:220–225. doi: 10.1016/j.prrv.2012.05.003. - DOI - PubMed
    1. Yen E.H., Quinton H., Borowitz D. Better nutritional status in early childhood is associated with improved clinical outcomes and survival in patients with cystic fibrosis. J. Pediatr. 2013;162:530–535. doi: 10.1016/j.jpeds.2012.08.040. - DOI - PubMed
    1. Tridello G., Castellani C., Meneghelli I., Tamanini A., Assael B.M. Early diagnosis from newborn screening maximises survival in severe cystic fibrosis. ERJ Open Res. 2018;4:00109–2017. doi: 10.1183/23120541.00109-2017. - DOI - PMC - PubMed
    1. Barben J., Castellani C., Dankert-Roelse J., Gartner S., Kashirskaya N., Linnane B., Mayell S., Munck A., Sands D., Sommerburg O., et al. The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe. J. Cyst. Fibros. 2017;16:207–213. doi: 10.1016/j.jcf.2016.12.012. - DOI - PubMed
    1. Borowitz D., Parad R.B., Sharp J.K., Sabadosa K.A., Robinson K.A., Rock M.J., Farrell P.M., Sontag M.K., Rosenfeld M., Davis S.D., et al. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J. Pediatr. 2009;155(Suppl. S6):S106–S116. doi: 10.1016/j.jpeds.2009.09.003. - DOI - PMC - PubMed

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