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Newborn screening for cystic fibrosis: Is there benefit for everyone?

C W Course1, R Hanks1

  • 1Department of Paediatric Respiratory Medicine and Cystic Fibrosis, Children's Hospital for Wales, Cardiff, United Kingdom.

Paediatric Respiratory Reviews
|April 9, 2019
PubMed

Insights

Newborn screening for cystic fibrosis (CF) identifies infants with inconclusive diagnoses (CF-SPID). Management strategies are needed for these children, considering potential psychosocial impacts despite mild or no symptoms.

Area of Science:

  • Genetics
  • Public Health
  • Pediatrics

Background:

  • Newborn screening for cystic fibrosis (CF) is a global public health strategy.
  • Optimal screening methods and gene panels lack consensus.
  • Advancements in CFTR genetics create diagnostic uncertainty.

Purpose of the Study:

  • To address the emergence of Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CF-SPID).
  • To question the role and management of newborn screening for CF.
  • To explore the psychosocial impact on children with CF-SPID.

Main Methods:

  • Review of current newborn screening protocols for CF.
  • Analysis of CFTR genetics and phenotypic variability.
  • Discussion of diagnostic uncertainty and management pathways.

Main Results:

  • Newborn screening identifies a subset of infants with CF-SPID.
  • These infants may be clinically well or have mild phenotypes.
  • Psychosocial impacts can occur despite a lack of severe symptoms.

Conclusions:

  • Current newborn screening for CF requires re-evaluation.
  • Optimal management strategies for CF-SPID are needed.
  • Balancing screening benefits with potential harms is crucial.

Keywords:
Cystic fibrosisGeneticsScreening

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