Cystic fibrosis screen positive, inconclusive diagnosis

Current Opinion in Pulmonary Medicine

Volumn 22, Issue 6, 2016, Pages 617-622

  Barben, Jurg ^a   Southern, Kevin W ^b  

^a Children's Hospital of Eastern Switzerland   (Switzerland)

^b UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

CFTR; Cystic fibrosis; Cystic fibrosis screen positive; Cystic fibrosis transmembrane conductance regulator related metabolic syndrome; Inconclusive diagnosis; Newborn bloodspot screening

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULTHOOD; CHILD; CHILDHOOD; CLINICAL OUTCOME; CYSTIC FIBROSIS; DISEASE CLASSIFICATION; EARLY CHILDHOOD INTERVENTION; HUMAN; INFANT; MORBIDITY; NEWBORN SCREENING; NONHUMAN; REVIEW; ALGORITHM; EUROPE; GENETICS; METABOLIC SYNDROME X; NEWBORN;

ALGORITHMS; CYSTIC FIBROSIS; EUROPE; HUMANS; INFANT, NEWBORN; METABOLIC SYNDROME; NEONATAL SCREENING;

EID: 84984691505     PISSN: 10705287     EISSN: 15316971     Source Type: Journal    
DOI: 10.1097/MCP.0000000000000314     Document Type: Review

References (21)

1. Wilson JMG, Jungner G. Principles and practice of screening for disease. Public Health papers No. 34. Geneva: World Health Organization; 1968.
2. Castellani C, Massie J, Sontag M, Southern KW. Newborn screening for cystic fibrosis. Lancet Respir Med 2016; 4:653-661.
3. Borowitz D, Parad RB, Sharp JK, et al. Cystic fibrosis foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 2009; 155:S105-S116.
4. Levy H, Farrell PM. New challenges in the diagnosis and management of cystic fibrosis. J Pediatr 2015; 166:1337-1341.
5. Munck A, Mayell SJ, Winters V, et al. Cystic fibrosis screen positive, inconclusive diagnosis (CFSPID): a new designation and management recommen dations for infants with an inconclusive diagnosis following newborn screening. J Cyst Fibros 2015; 14:706-713.
6. Sands D, Zybert K, Mierzejewska E, Oltarzewski M. Diagnosing cystic fibrosis in newborn screening in Poland-15 years of experience. Dev Period Med 2015; 19:16-24.
7. Lundman E, Gaup HJ, Bakkeheim E, et al. Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years. J Cyst Fibros 2016; 15:318-324.
8. Ooi CY, Castellani C, Keenan K, et al. Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics 2015; 135:e1377-e1385.
9. Kharrazi M, Yang J, Bishop T, et al. Newborn screening for cystic fibrosis in California. Pediatrics 2015; 136:1062-1072.
10. Ren CL, Fink AK, Petren K, et al. Outcomes of infants with indeterminate diagnosis detected by cystic fibrosis newborn screening. Pediatrics 2015; 135:e1386-e1392.
11. Massie J, Gillam L. Uncertain diagnosis after newborn screening for cystic fibrosis: an ethics-based approach to a clinical dilemma. Pediatr Pulmonol 2014; 49:1-7.
12. Barben J, Rueegg CS, Jurca M, et al., Swiss Cystic Fibrosis Screening Group. Measurement of fecal elastase improves performance of newborn screening for cystic fibrosis. J Cyst Fibros 2016; 15:313-317.
13. Groves T, Robinson P, Fitzgerald DA. Question 7: For an infant with an equivocal sweat chloride following newborn screening, how likely is a diagnosis of cystic fibrosis? Paediatr Respir Rev 2015. [Epub ahead of print]
14. Salinas DB, Sosnay PR, Azen C, et al. Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants. J Cyst Fibros 2015; 14:714-719.
15. Groves T, Robinson P, Wiley V, Fitzgerald DA. Long-term outcomes of children with intermediate sweat chloride values in infancy. J Pediatr 2015; 166:1469-1474.
16. Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008; 153: S4-S14.
17. Levy H, Nugent M, Schneck K, et al. Refining the continuum of CFTR-associated disorders in the era of newborn screening. Clin Genet 2016; 89:539-549.
18. Bombieri C, Claustres M, De Boeck K, et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cystic Fibrosis 2011; 10 (Suppl):S86-S102.
19. De Boeck K, Wilschanski M, Castellani C, et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006; 61:627-635.
20. Mayell SJ, Munck A, Craig JV, et al. A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros 2009; 8:71-78.
21. Rueegg CS, Barben J, Hafen GM, et al. Newborn screening for cystic fibrosis-the parent perspective. J Cyst Fibros 2016; 15:443-451.