Challenges in cystic fibrosis newborn screening and recommendations for primary care physicians

Pediatrics

Volumn 136, Issue 6, 2015, Pages 1181-1184

  Sosnay, Patrick R ^a   Farrell, Philip ^b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRYPSINOGEN; CFTR PROTEIN, HUMAN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; CFTR GENE; CLINICAL EFFECTIVENESS; COMPUTER PROGRAM; CYSTIC FIBROSIS; ETHNIC DIFFERENCE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEALTH CARE ACCESS; HEALTH PROGRAM; HUMAN; NEWBORN SCREENING; NOTE; PHYSICIAN; PRIMARY MEDICAL CARE; PRIORITY JOURNAL; SWEAT TEST; WEB BROWSER; CALIFORNIA; GENERAL PRACTITIONER; GENETICS; MUTATION; NEWBORN; PROCEDURES;

CALIFORNIA; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; PHYSICIANS, PRIMARY CARE;

EID: 84948734736     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2015-3490     Document Type: Note

References (13)

1. Farrell PM, Rosenstein BJ, White TB, et al; Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153(2):S4-S14
2. Lai HC, Kosorok MR, Laxova A, Makholm LM, Farrell PM. Delayed diagnosis of US females with cystic fibrosis. Am J Epidemiol. 2002;156(2):165-173
3. Kharrazi M, Yang J, Bishop T, et al; California Cystic Fibrosis Newborn Screening Consortium. Newborn screening for cystic fibrosis in California. Pediatrics. 2015;136(6):1062-1072
4. Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004;6(5):387-391
5. Baker MW, Groose M, Hoffman G, Rock M, Levy H, Farrell PM. Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening. J Cyst Fibros. 2011; 10(4):278-281
6. Cheon JY, Mozersky J, Cook-Deegan R. Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come? Genome Med. 2014;6(12):121
7. Sosnay PR, Siklosi KR, Van Goor F, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013;45(10):1160-1167
8. Lim RM, Silver AJ, Silver MJ, et al. Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk [published online ahead of print April 16, 2015]. Genet Med. doi:10.1038/gim.2015.52
9. Amaral MD. Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients. J Intern Med. 2015;277(2):155-166
10. Farrell PM, Kosorok MR, Rock MJ, et al; Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Pediatrics. 2001;107(1):1-13
11. Sanders DB, Li Z, Laxova A, et al. Risk factors for the progression of cystic fibrosis lung disease throughout childhood. Ann Am Thorac Soc. 2014;11(1):63-72
12. Ren CL, Fink AK, Petren K, et al. Outcomes of infants with indeterminate diagnosis detected by cystic fibrosis newborn screening. Pediatrics. 2015;135(6). Available at: www.pediatrics.org/cgi/content/full/135/6/e1386
13. Grosse SD, Rosenfeld M, Devine OJ, Lai HJ, Farrell PM. Potential impact of newborn screening for cystic fibrosis on child survival: a systematic review and analysis. J Pediatr. 2006;149(3):362-366