Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations

作者：Sommerburg Olaf^*; Krulisova Veronika; Hammermann Jutta; Lindner Martin; Stahl Mirjam; Muckenthaler Martina; Kohlmueller Dirk; Happich Margit; Kulozik Andreas E; Votava Felix; Balascakova Miroslava; Skalicka Veronika; Stopsack Marina; Gahr Manfred; Macek Milan Jr; Mall Marcus A; Hoffinann Georg F

来源：Journal of Cystic Fibrosis, 2014, 13(1): 15-23.

DOI：10.1016/j.jcf.2013.06.003

• Cystic fibrosis
• Newborn screening
• Biochemical screening
• Pancreatitis associated protein
• Immunoreactive trypsinogen

Background: In recent years different IRT/PAP protocols have been evaluated, but the individual performance remains unclear. To optimize the IRT/PAP strategy we compared protocols from three regional CF newborn screening centers (Heidelberg, Dresden, and Prague).
Methods: We evaluated the effect of elevating the IRT-cut-off from 50 to 65 mu g/l (similar to 97.5th to similar to 99.0th percentile), the need of a failsafe protocol (FS, lRT >= 99.9th percentile) and the relative performance using either two lRT-dependent PAP-cut-offs or one PAP-cut-off.
Findings: Elevation of the IRT cut-off to 65 mu g/l (similar to 99.0th percentile) increased the PPV significantly (Dresden: 0.065 vs. 0.080, p <0.0001, Prague: 0.052 vs. 0.074, p <0.0001) without reducing sensitivity. All three IRT/PAP protocols showed a trend towards a higher sensitivity with FS than without and when using one PAP-cut-off instead of two IRT-dependent PAP-cut-offs.
Conclusions: For best performance we suggest an IRT/PAP protocol with an lRT-cut-off close to the 99.0th percentile, FS, and a single PAP-cut-off.

• 出版日期2014-1