- 作者：Olaf Sommerburg ; Veronika Krulisova ; Jutta Hammermann ; Martin Lindner ; Mirjam Stahl ; Martina Muckenthaler ; Dirk Kohlmueller ; Margit Happich ; Andreas E. Kulozik ; Felix Votava ; Miroslava Balascakova ; Veronika Skalicka ; Marina Stopsack ; Manfred Gahr ; Milan Macek Jr. ; Marcus A. Mall ; Georg F. Hoffmann
- 关键词：CF ; cystic fibrosis ; CFNBS ; cystic fibrosis newborn screening ; DBS ; dried blot spot ; FS ; failsafe strategy ; IRT ; immunoreactive trypsinogen ; NBS ; newborn screening ; MI ; meconium ileus ; PAP ; pancreatitis associated protein ; PS ; pancreatic sufficient ; PI ; pancreatic insufficient
- 刊名：Journal of Cystic Fibrosis
- 出版年：January, 2014
- 年：2014
- 卷：13
- 期：1
- 页码：15-23
- 全文大小：371 K
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 渭g/l (~ 97.5th to ~ 99.0th percentile), the need of a failsafe protocol (FS, IRT 鈮?#xA0;99.9th percentile) and the relative performance using either two IRT-dependent PAP-cut-offs or one PAP-cut-off.
Findings
Elevation of the IRT cut-off to 65 渭g/l (~ 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 IRT-cut-off close to the 99.0th percentile, FS, and a single PAP-cut-off.