Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing - 21/08/11
, Gary Hoffman, BS, Ronald H. Laessig, PhD, Greg J. Kopish, BS, Thomas J. Litsheim, BS, Philip M. Farrell, MD, PhD
Reprint requests: Michael J. Rock, MD, Professor of Pediatrics, University of Wisconsin Hospital, 600 Highland Ave, K4/946, Madison, WI 53792.Abstract |
Objective |
To describe the development and follow-up confirmatory results of the routine cystic fibrosis (CF) newborn screening (NBS) program in Wisconsin.
Methods |
CF NBS has been performed on a routine clinical basis in Wisconsin since July 1994. The 2-tiered immunoreactive trypsinogen (IRT)/DNA technique was used on dried blood on filter paper spots. From July 1994 to February 2002, mutation analysis was for the ΔF508 allele. Beginning in March 2002, multimutation analysis of 25 CF mutations was performed. Infants with a positive result on NBS were seen in certified CF centers for sweat testing by means of quantitative pilocarpine iontophoresis, and families received genetic counseling.
Results |
From July 1994 to February 2002, there were 120 cases of CF detected by means of NBS (509,794 infants screened), with 53 ΔF508 homozygotes and 67 compound heterozygotes. There were 8 clinically diagnosed cases of CF (no ΔF508 allele). The CF incidence was 1:3983 (95%CI, 1:3373-1:4774). From March 2002 to June 2003, multimutation analysis identified 21 cases of classic CF (90,142 infants screened). Sweat tests were successfully performed in infants younger than 1 month.
Conclusions |
Early diagnosis of CF through NBS was successfully performed, with an estimated sensitivity rate of 99% using the IRT/25 CFTR multimutation assay.
Le texte complet de cet article est disponible en PDF.Mots-clés : CF, IRT, NBS, PCP, RCT
Plan
| Presented in part at the Cystic Fibrosis Foundation/Centers for Disease Control sponsored workshop “Newborn Screening for Cystic Fibrosis,” November 21, 2003, Atlanta, Georgia. |
Vol 147 - N° 3S
P. S73-S77 - septembre 2005 Retour au numéro
Article précédent
- Sweat Testing Infants Detected by Cystic Fibrosis Newborn Screening
- Richard B. Parad, Anne Marie Comeau, Henry L. Dorkin, Mark Dovey, Robert Gerstle, Thomas Martin, Brian P. O’Sullivan
- Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm
- Richard B. Parad, Anne Marie Comeau
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