Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes - 21/08/11
, Keith B. Hammond, MS, Julian Zielenski, PhD, Jeffrey S. Wagener, MD, Frank J. Accurso, MD
Reprint requests: Marci K. Sontag, PhD, The Children’s Hospital, 1056 E 19th Ave B395, Denver, CO, 80218.Abstract |
Objective |
To examine immunoreactive trypsinogen (IRT)-based screening for cystic fibrosis (CF) for recall rate, genotype distribution, and “borderline” sweat test results.
Study design |
CF newborn screening in Colorado began in 1982, and >1,153,000 infants were screened through 2002 with an IRT-based screen (IRT/IRT).
Results |
We have identified 313 infants with CF, giving an overall incidence of 1 in 3684 and a Hispanic incidence of 1 in 6495. Fifty-five infants with meconium ileus (17.6%) were excluded from analysis. Fourteen infants with false-negative results were identified (5.4%). The average recall rate was 0.6%, with a positive predictive value of 4.7%. Ninety-three percent of the infants had at least 1 ΔF508 mutation, and 98% of the infants had at least 1 mutation from the American College of Medical Genetics recommended panel.
Six infants had hypertrypsinogenemia and borderline results on sweat tests (30-60 mmol/L). Increased variability in sweat chloride levels were seen in these infants compared with infants with homozygous ΔF508. Three children with initial borderline results on sweat tests had CF diagnosed.
Conclusions |
The recall and false-negative rates of our IRT/IRT CF screening program are reported. Additionally, genotypes of the patients identified mirror the CF population genotypes, reflecting similar disease severity in the screened population. Finally, infants with persistent hypertrypsinogenemia and borderline sweat test results need long-term follow-up.
Le texte complet de cet article est disponible en PDF.Mots-clés : ACMG, CF, CFTR, FN, IRT, NBS
Plan
| Supported by the National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health (grant RO1 DK61886-02); General Clinical Research Centers Program, National Center for Research Resources, National Institutes of Health (grant MO1 RR00069), and the Cystic Fibrosis Foundation. Dr Sontag receives the financial support from the Cystic Fibrosis Foundation (Genomics of Clinical Samples in Cystic Fibrosis). Dr Accurso is a member of the Board of Trustees of the Cystic Fibrosis Foundation and a member of the Board of Directors of Cystic Fibrosis Foundation Therapeutics, Inc. Dr Accurso receives grants from the Cystic Fibrosis Foundation (Care Center Grant, Therapeutics Development Center, Inflammatory Mediator Core Center Grant, Protein Expression in Cystic Fibrosis, Genomics of Clinical Samples in Cystic Fibrosis). Dr Wagener is a member of the Care Center Committee of the Cystic Fibrosis Foundation. Dr Wagener also receives support from grants from the Cystic Fibrosis Fondation (Care Center Grant, Therapeutics Development Center). |
Vol 147 - N° 3S
P. S83-S88 - septembre 2005 Retour au numéro
Article précédent
- Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm
- Richard B. Parad, Anne Marie Comeau
- Challenges in Implementing a Successful Newborn Cystic Fibrosis Screening Program
- Anne Marie Comeau, Richard Parad, Robert Gerstle, Brian P. O’Sullivan, Henry L. Dorkin, Mark Dovey, Kenan Haver, Tom Martin, Roger B. Eaton
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