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False-Positive Newborn Screening for Cystic Fibrosis and Health Care Use

Robin Z Hayeems1,2, Fiona A Miller2, Marian Vermeulen3

  • 1Child Health Evaluative Sciences Program and robin.hayeems@sickkids.ca.

Pediatrics
|October 14, 2017
PubMed

Insights

False-positive newborn bloodspot screening results for cystic fibrosis increase infant healthcare use, including outpatient visits and hospitalizations, but not maternal use. Further investigation into confirmatory testing and parental perceptions is warranted.

Area of Science:

  • Public Health
  • Genetics
  • Pediatrics

Background:

  • False-positive (FP) results in newborn bloodspot screening (NBS) can impact healthcare utilization.
  • Evidence regarding the extent of this impact, particularly for conditions like cystic fibrosis (CF), remains inconclusive.

Purpose of the Study:

  • To determine the association between FP NBS results for CF and subsequent healthcare use in infants and their mothers in Ontario, Canada.

Main Methods:

  • A population-based cohort study utilized linked health administrative data for infants with FP CF results and matched screen-negative controls.
  • Outcomes assessed included maternal and infant physician visits, emergency visits, and hospitalizations from 3 to 15 months of age.
  • Negative binomial regression was employed to analyze associations, adjusting for relevant covariates.

Main Results:

  • Infants with FP NBS results showed significantly higher rates of outpatient visits (RR 1.39) and hospital admissions (RR 1.67) compared to controls.
  • No significant differences were observed in CF-related admissions or emergency department visits between groups.
  • Maternal healthcare use did not differ between the FP and control groups.

Conclusions:

  • FP NBS results are associated with increased outpatient service utilization, potentially due to extended confirmatory and follow-up testing processes.
  • Elevated hospitalization rates among healthy infants with FP results may indicate heightened parental concern or perceived vulnerability.
  • The findings highlight the downstream healthcare implications of FP NBS results, even for conditions not ultimately diagnosed.
Abstract

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