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    Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm

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    Authors
    Parad, Richard B.
    Comeau, Anne Marie
    UMass Chan Affiliations
    New England Newborn Screening Program
    Department of Pediatrics
    Document Type
    Journal Article
    Publication Date
    2005-09-06
    Keywords
    *Algorithms
    Chlorides
    Clinical Protocols
    Cystic Fibrosis
    Cystic Fibrosis Transmembrane Conductance Regulator
    DNA Mutational Analysis
    Decision Trees
    False Negative Reactions
    False Positive Reactions
    Follow-Up Studies
    Humans
    Immunoassay
    Infant, Newborn
    Massachusetts
    Mutation
    Neonatal Screening
    Practice Guidelines as Topic
    Sweat
    Trypsinogen
    Genetics and Genomics
    Medical Genetics
    Pediatrics
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    Link to Full Text
    http://dx.doi.org/10.1016/j.jpeds.2005.08.017
    Abstract
    OBJECTIVE: To quantitate the proportion of infants identified through cystic fibrosis (CF) newborn screening (NBS) by an immunoreactive trypsinogen (IRT)/DNA screening algorithm who have an unclear diagnosis as defined by the findings of an elevated IRT level and either 1) 2 CF gene (CFTR) mutations detected and sweat chloride level <60 mEq/L; or 2) 0 or 1 CFTR mutations and a "borderline" sweat chloride level >or=30 and <60 mEq/L. STUDY DESIGN: Using the 4-year cohort of CF-affected infants recently described by the Massachusetts CF NBS program, we identified and described the number of infants with the diagnostic characteristics (diagnostic dilemmas) aforementioned. RESULTS: Of infants with positive results on CF NBS who had 1 CFTR mutation detected and a borderline sweat chloride concentration, nearly 20% displayed a second CFTR mutation on further evaluation. Of all infants with positive CF NBS results considered affected with CF, 11% had a diagnosis that fell into 1 of the diagnostic dilemma categories aforementioned. CONCLUSIONS: Four problematic diagnostic categories generated by CF NBS are defined. In the absence of data on the natural history of such infants, careful follow-up is recommended for infants in whom a definitive diagnosis is elusive.
    Source
    J Pediatr. 2005 Sep;147(3 Suppl):S78-82. Link to article on publisher's site
    DOI
    10.1016/j.jpeds.2005.08.017
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/43267
    PubMed ID
    16202789
    Related Resources
    Link to Article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1016/j.jpeds.2005.08.017
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