Cystic fibrosis diagnosed by state newborn screening: Or is it?

SAGE Open Medical Case Reports
Maura FoxTheresa A Laguna

Abstract

Newborn screening for cystic fibrosis is universal across the United States; however, each state chooses the method by which they screen. Illinois employs a two-step process which includes the measurement of the immunoreactive trypsinogen followed by an assay designed to detect 74 of the most common genetic mutations in the cystic fibrosis transmembrane conductance regulator protein. We report the case of an infant born in Illinois with a positive cystic fibrosis newborn screening with an elevated immunoreactive trypsinogen and two genetic mutations identified (F508del/F508del). The primary care physician informed the parents their child had cystic fibrosis and referred her for a confirmatory sweat test which was negative for cystic fibrosis. Upon further investigation, the assay was found to have been set up incorrectly and repeat analysis identified the genotype F508del/F508C. This case highlights the importance of performing the confirmatory sweat test prior to making a diagnosis of cystic fibrosis.

References

Jan 2, 2008·Pediatrics·UNKNOWN American Academy of Pediatrics Newborn Screening Authoring Committee
Oct 15, 2008·Human Molecular Genetics·Jane Kaye
Jan 12, 2011·Pediatrics·Colleen Walsh LangLainie Friedman Ross
Jan 29, 2017·The Journal of Pediatrics·Philip M FarrellPatrick R Sosnay
Sep 28, 2018·Pediatric Pulmonology·Heather HochScott D Sagel

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Citations

Apr 2, 2021·Science Translational Medicine·Tyler R RayJohn A Rogers

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Methods Mentioned

BETA
genotyping

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