A New Cystic Fibrosis Newborn Screening Algorithm: IRT/IRT1↑/DNA - 07/08/11
, Dan Wright b, James Beebe, PhD b, Frank J. Accurso, MD c, Scott D. Sagel, MD c
Reprint requests: Marci K. Sontag, PhD, The Children’s Hospital, 13123 E 16th Ave, B395, Aurora, Colorado, 80045.Abstract |
Objective |
To evaluate an immunoreactive trypsinogen (IRT) IRT/IRT1↑/DNA algorithm, aimed at improving sensitivity while decreasing cystic fibrosis (CF) carrier identification.
Study design |
New technologies allow the measurement of the second IRT level solely in infants with an elevated first IRT level. Specimens with an elevated second IRT level undergo mutation analysis. We tested the projected efficacy with retrospective data from Colorado.
Results |
All known infants with CF would have been identified with our proposed IRT cutoff points, and 3 would have been missed with our mutation panel. Two of 3 missed cases would have been identified by using a failsafe method (IRT >99.9th percentile), yielding a sensitivity rate of 99.7% (95% CI, 98.4-99.9). Estimated reduction in carrier detection was 80% compared with IRT/DNA.
Conclusion |
IRT/IRT1↑/DNA appears to improve cystic fibrosis newborn screen sensitivity while decreasing carrier identification, providing an alternative to IRT/IRT in states that obtain 2 blood spots.
Le texte complet de cet article est disponible en PDF.Mots-clés : ACMG, CF, CFTR, IRT, NBS
Plan
| Supported by the Cystic Fibrosis Foundation SONTAG07AO, NIDDK RO1 DK61886, NHLBI U01 HL081335. The authors declare no real or perceived conflicts of interest. |
Vol 155 - N° 5
P. 618-622 - novembre 2009 Retour au numéro
Article précédent
- Knowledge Gaps and Research Needs for Understanding and Treating Neonatal Hypoglycemia: Workshop Report from Eunice Kennedy Shriver National Institute of Child Health and Human Development
- William W. Hay, Tonse NK. Raju, Rosemary D. Higgins, Satish C. Kalhan, Sherin U. Devaskar
- Bronchiectasis in Infants and Preschool Children Diagnosed with Cystic Fibrosis after Newborn Screening
- Stephen M. Stick, Siobhain Brennan, Conor Murray, Tonia Douglas, Britta S. von Ungern-Sternberg, Luke W. Garratt, Catherine L. Gangell, Nicholas De Klerk, Barry Linnane, Sarath Ranganathan, Phillip Robinson, Colin Robertson, Peter D. Sly, Australian Respiratory Early Surveillance Team for Cystic Fibrosis (AREST CF) ∗
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