The need for vigilance: The case of a false-negative newborn screen for cystic fibrosis

Christina T. Dunn, Mary M. Skrypek, Amy L R Powers, Theresa A. Laguna*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

Cystic fibrosis (CF) is the most common life-limiting recessive genetic disorder in the white population. CF is caused by abnormalities in the gene that codes for the cystic fibrosis transmembrane conductance regulator protein (CFTR) and may result in severe chronic lung disease, poor growth, and malnutrition. Physicians often do not consider CF in the differential diagnosis of an infant with failure to thrive in the presence of a negative newborn screening (NBS) result. In Minnesota, newborn infants are screened for CF by immunoreactive trypsinogen (IRT) testing followed by DNA analysis if the IRT screen result is abnormal. All positive NBS results are followed by confirmatory sweat-testing by pilocarpine iontophoresis. We present here the case of a 1-month-old white boy with failure to thrive, chronic diarrhea, and severe malnutrition. Minnesota state CF NBS results were negative at birth (IRT: 43 ng/mL [96% cutoff value: 52 ng/mL]). Clinical symptoms resulted in sweat-testing by Gibson-Cooke pilocarpine iontophoresis at 1 month of age, and the result was positive (102 mmol Cl-/L [normal: ≤30 mmol Cl-/L]). CFTR mutation analysis confirmed a homozygous f508del genotype, and stool pancreatic elastase testing revealed severe exocrine pancreatic insufficiency. This case represents the first known false-negative result in Minnesota since the initiation of NBS for CF in 2006, which illustrates the importance of considering CF in the evaluation of an infant with failure to thrive and symptoms of malabsorption, regardless of NBS results.

Original languageEnglish (US)
Pages (from-to)e446-e449
JournalPediatrics
Volume128
Issue number2
DOIs
StatePublished - Aug 2011

Keywords

  • Cystic fibrosis
  • Diarrhea
  • Failure to thrive
  • False-negative
  • Malabsorption
  • Newborn screen
  • Pilocarpine iontophoresis
  • Sweat test

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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