OBJECTIVES: To describe optimization of a nationwide newborn screening program for cystic fibrosis (CF) that combines an immunoreactive trypsinogen (IRT) assay and DNA mutation analysis in dried blood samples at day 3. STUDY DESIGN: Data from regional screening laboratories and CF care centers were centralized and periodically analyzed to allow adaptation, thus limiting the number of false-positive cases. RESULTS: A total of 2717905 infants were screened between 2002 and 2005. Flow chart protocol was modified twice. First, the IRT d3 cutoff value increased from 60 to 65 microg/L, thus decreasing the percentage of samples requiring mutation analysis from 0.82% to 0.64%. Second, for infants with no mutations using the screening panel, a recall for IRT was performed only if IRT d3 was > 100 microg/L; the percentage of recalls decreased from 0.51% to 0.12%, and the percentage of infants requiring a sweat test decreased from 0.14% to 0.01%. No significant change in the CF detection rate was observed after these 2 modifications. A total of 625 CF cases were detected, and 22 false-negative findings (3.4%) were observed, most of them inevitable, with a low initial IRT. CONCLUSIONS: The centralized data analysis led to changes in the screening strategy to optimise the newborn screening program.
OBJECTIVES: To describe optimization of a nationwide newborn screening program for cystic fibrosis (CF) that combines an immunoreactive trypsinogen (IRT) assay and DNA mutation analysis in dried blood samples at day 3. STUDY DESIGN: Data from regional screening laboratories and CF care centers were centralized and periodically analyzed to allow adaptation, thus limiting the number of false-positive cases. RESULTS: A total of 2717905 infants were screened between 2002 and 2005. Flow chart protocol was modified twice. First, the IRT d3 cutoff value increased from 60 to 65 microg/L, thus decreasing the percentage of samples requiring mutation analysis from 0.82% to 0.64%. Second, for infants with no mutations using the screening panel, a recall for IRT was performed only if IRT d3 was > 100 microg/L; the percentage of recalls decreased from 0.51% to 0.12%, and the percentage of infants requiring a sweat test decreased from 0.14% to 0.01%. No significant change in the CF detection rate was observed after these 2 modifications. A total of 625 CF cases were detected, and 22 false-negative findings (3.4%) were observed, most of them inevitable, with a low initial IRT. CONCLUSIONS: The centralized data analysis led to changes in the screening strategy to optimise the newborn screening program.
Authors: Melissa R Miller; David Soave; Weili Li; Jiafen Gong; Rhonda G Pace; Pierre-Yves Boëlle; Garry R Cutting; Mitchell L Drumm; Michael R Knowles; Lei Sun; Johanna M Rommens; Frank Accurso; Peter R Durie; Harriet Corvol; Hara Levy; Marci K Sontag; Lisa J Strug Journal: J Pediatr Date: 2015-03-11 Impact factor: 4.406
Authors: Olaf Sommerburg; Martin Lindner; Martina Muckenthaler; Dirk Kohlmueller; Svenja Leible; Reinhard Feneberg; Andreas E Kulozik; Marcus A Mall; Georg F Hoffmann Journal: J Inherit Metab Dis Date: 2010-08-17 Impact factor: 4.982
Authors: Edith T Zemanick; J Kirk Harris; Steven Conway; Michael W Konstan; Bruce Marshall; Alexandra L Quittner; George Retsch-Bogart; Lisa Saiman; Frank J Accurso Journal: J Cyst Fibros Date: 2009-10-14 Impact factor: 5.482
Authors: Marie Pierre Audrézet; Anne Munck; Virginie Scotet; Mireille Claustres; Michel Roussey; Dominique Delmas; Claude Férec; Marie Desgeorges Journal: Genet Med Date: 2014-08-14 Impact factor: 8.822