Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Cystic fibrosis screening
Introduction
Overview
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
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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]