Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm - 21/08/11
, Anne Marie Comeau, PhD
Reprint requests: Richard Parad, MD, MPH, Co-Director, Massachusetts Cystic Fibrosis Newborn Screening Program, New England Newborn Screening Program of University of Massachusetts Medical School, 305 South St, Jamaica Plain, MA 02130.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 ≥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.
Le texte complet de cet article est disponible en PDF.Mots-clés : CF, CFTR, [Cl−], DBS, IRT, NBS, QNS
Plan
| Dr Parad has received grant support from the Cystic Fibrosis Foundation. Drs Parad and Comeau are advisors to the Cystic Fibrosis Foundation on cystic fibrosis newborn screening. |
Vol 147 - N° 3S
P. S78-S82 - septembre 2005 Retour au numéro
Article précédent
- Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing
- Michael J. Rock, Gary Hoffman, Ronald H. Laessig, Greg J. Kopish, Thomas J. Litsheim, Philip M. Farrell
- Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes
- Marci K. Sontag, Keith B. Hammond, Julian Zielenski, Jeffrey S. Wagener, Frank J. Accurso
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