Cystic fibrosis screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
Overview
Newborn screening identified most of the children with cystic fibrosis before the symptoms develop. It offers this opportunity for early diagnosis and improved outcomes. Immunoreactive trypsinogen (IRT) of serum is raised in newborns with cystic fibrosis and has been used as a screening test. A raised IRT in the first week of life is a sensitive test but not specific for cystic fibrosis.
Screening
- In almost all of the Western countries, newborn screening for cystic fibrosis (CF NBS) has been introduced that identified most of the children with cystic fibrosis before the symptoms develop.
- It offers this opportunity for early diagnosis and improved outcomes in patients with cystic fibrosis.[1][2]
- Immunoreactive trypsinogen (IRT) of serum is raised in newborns with cystic fibrosis and has been used as a screening test.
- A raised IRT in the first week of life (b-IRT) is a sensitive test but not specific for cystic fibrosis. A second IRT test within 6 weeks of life is used in some screening protocols to avoid excessive numbers of sweat chloride test.[3][4]
References
- ↑ Gonska T, Ratjen F (October 2015). "Newborn screening for cystic fibrosis". Expert Rev Respir Med. 9 (5): 619–31. doi:10.1586/17476348.2015.1085804. PMID 26366807.
- ↑ Hale JE, Parad RB, Dorkin HL, Gerstle R, Lapey A, O'Sullivan BP, Spencer T, Yee W, Comeau AM (October 2010). "Cystic fibrosis newborn screening: using experience to optimize the screening algorithm". J. Inherit. Metab. Dis. 33 (Suppl 2): S255–61. doi:10.1007/s10545-010-9117-3. PMID 20521170.
- ↑ Rock MJ, Mischler EH, Farrell PM, Bruns WT, Hassemer DJ, Laessig RH (1989). "Immunoreactive trypsinogen screening for cystic fibrosis: characterization of infants with a false-positive screening test". Pediatr. Pulmonol. 6 (1): 42–8. PMID 2704582.
- ↑ Paracchini V, Seia M, Raimondi S, Costantino L, Capasso P, Porcaro L, Colombo C, Coviello DA, Mariani T, Manzoni E, Sangiovanni M, Corbetta C (2012). "Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonates". JIMD Rep. 4: 17–23. doi:10.1007/8904_2011_55. PMC 3509858. PMID 23430892.