The main goal of newborn screening (NBS) programs is to detect infants with a treatable
disease early, in order to initiate treatment [
[1]
]. This noble endeavour seemed straightforward when initially proposed when the spectrum
of disease manifestation from gene mutations (or anticipated gene mutations for a
disease like cystic fibrosis (CF) which was known to be inherited) was thought to
be all or none. We now know the situation is more complicated, with clinical manifestations
resulting from mutations in the CF transmembrane conductance regulator (CFTR) gene
ranging from “classic” pancreatic insufficient CF to CFTR-related disorder or none
at all. In an era in which technology enables new options for CF NBS it is essential
to re-evaluate the goals of screening. In this issue of the Journal there are two
papers about the diagnosis of CF which at face value seem to ask different questions,
but are both probing a bigger question, how should we diagnose CF from NBS?To read this article in full you will need to make a payment
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Reference
- Principles and Practice of Screening for Disease.World Health Organization, Geneva1968 (Public Health papers No.34)
- Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening.J Cyst Fibros. 2022; (Online ahead of print)https://doi.org/10.1016/j.jcf.2022.07.010
- European cystic fibrosis society standards of care: best practice guideline.J Cyst Fibros. 2014; 13: S23-S42
- Diagnosis of cystic fibrosis in screened populations.J Pediatr. 2017; 181S: S33-S44
- Next-generation sequencing in newborn screening: a review of current state.Front Genet. 2021; 12 (eCollection 2021)https://doi.org/10.3389/fgene.2021.662254
- The role of extended CFTR gene sequencing in newborn screening for cystic fibrosis.Int J Neonatal Screen. 2020; 6https://doi.org/10.3390/ijns6010023
- Psychological impact on parents of an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis: a qualitative study.Int J Neonatal Screen. 2019; 5 (eCollection): 23https://doi.org/10.3390/ijns5020023
- Refinement of newborn screening for cystic fibrosis with next generation sequencing.Pediatr Pulmonol. 2022; (Online ahead of print)https://doi.org/10.1002/ppul.26253
- Processing newborn bloodspot screening results for CF.Int J Neonatal Screen. 2020; 6: 25
- Missed cystic fibrosis newborn screening cases due to immunoreactive trypsinogen levels below program cutoffs: a national survey of risk factors.Int J Neonatal Screen. 2022; 8: 58https://doi.org/10.3390/ijns8040058
- European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.J Cyst Fibros. 2022; (Online ahead of print)https://doi.org/10.1016/j.jcf.2022.09.012
- Newborn screening for cf across the globe - where is it worthwhile?.Int J Neonatal Screen. 2020; 6https://doi.org/10.3390/ijns6010018
- Different management approaches and outcome for infants with an inconclusive diagnosis following newborn screening for cystic fibrosis (CRMS/CFSPID) and Pseudomonas aeruginosa isolation.J Cyst Fibros. 2022; (S1569-1993(22)00626-9Online ahead of print)https://doi.org/10.1016/j.jcf.2022.07.007
- Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive,inconclusive diagnosis (CRMS/CFSPID).J Cyst Fibros. 2021; 20: 810-819
- Oropharyngeal flora in healthy infants: observations and implications for cystic fibrosis care.Pediatr Pulmonol. 2009; 44: 497-502
Article info
Publication history
Published online: January 23, 2023
Accepted:
January 17,
2023
Received:
January 17,
2023
Identification
Copyright
© 2023 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.
