Neonatal screening for cystic fibrosis: comparing the performances of IRT/DNA and IRT/PAP
2014
Sarles, J. | Giorgi, R. | Berthezene, P. | Munck, A. | Cheillan, David | Dagorn, J. C. | Roussey, M.
BACKGROUND: French health authorities promoted a study on 553,167 newborns comparing the performances of IRT/DNA and IRT/PAP for CF newborn screening. METHODS: In parallel to IRT/DNA, PAP was assayed in newborns with IRT\textgreater50 mug/L. Provisional PAP cutoffs at 3.0 mug/L when 50\textlessIRT\textless100 mug/L and 1.7 mug/L when IRT\textgreater100 were used. Positive newborns were subjected to sweat test. Optimal cutoffs were established by a non-inferiority method. RESULTS: 95 CF newborns were identified (83 classical forms (ClF), including 9 meconium ileus (MI), and 12 atypical (mild) forms (AF) Of them, IRT/DNA identified 85 (73 ClF including 5 MI and 12 AF). PAP cutoffs at 1.8 mug/L when 50\textless IRT\textless100 mug/L and 0.6 mug/L when IRT\textgreater100 mug/L would identify 82 CF: 77 ClF, including 8 MI, and 5 AF. The number of sweat tests was 314 and 1039 in the IRT/DNA and IRT/PAP strategies, respectively. CONCLUSIONS: Using the optimal cutoffs, the sensitivity of the IRT/PAP strategy would not be inferior to that of IRT/DNA if identification of MF is not required.
اظهر المزيد [+] اقل [-]الكلمات المفتاحية الخاصة بالمكنز الزراعي (أجروفوك)
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