Cystic fibrosis newborn screening: Using experience to optimize the screening algorithm

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 2, 2010, Pages

  Hale, Jaime E ^a   Parad, Richard B ^b   Dorkin, Henry L ^c   Gerstle, Robert ^d   Lapey, Allen ^e   O'Sullivan, Brian P ^a   Spencer, Terry ^c   Yee, William ^f   Comeau, Anne Marie ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d BAYSTATE MEDICAL CENTER   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f TUFTS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CFTR PROTEIN, HUMAN; CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSINOGEN;

ALGORITHM; ARTICLE; BLOOD; CHEMISTRY; CYSTIC FIBROSIS; GENETIC SCREENING; GENETICS; HEALTH CARE QUALITY; HUMAN; IMMUNOASSAY; METHODOLOGY; MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PREDICTIVE VALUE; PRIMARY HEALTH CARE; PROGRAM DEVELOPMENT; RETROSPECTIVE STUDY; SWEAT; UNITED STATES;

ALGORITHMS; BIOLOGICAL MARKERS; CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; HUMANS; IMMUNOASSAY; INFANT, NEWBORN; MASSACHUSETTS; MUTATION; NEONATAL SCREENING; PREDICTIVE VALUE OF TESTS; PRIMARY HEALTH CARE; PROGRAM DEVELOPMENT; PROGRAM EVALUATION; QUALITY INDICATORS, HEALTH CARE; RETROSPECTIVE STUDIES; SWEAT; TRYPSINOGEN;

EID: 79952197646     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9117-3     Document Type: Article

References (12)

1. Atkinson K, Zuckerman B, Sharfstein J, Levin D, Blatt RJR, Koh H (2001) A public health response to emerging technology: expansion of the Massachusetts newborn screening program. Public Health Rep 116:122-131
2. Borowitz D, Parad RB, Sharp JS et al. (2009) 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 155(6, Suppl 1):S71-S116
3. Code of Massachusetts Regulations (2008): 105 CMR 270.000 sections 270.001-011. Blood screening of newborns for treatable diseases and disorders
4. Comeau AM, Parad RB, Dorkin HL et al. (2004) Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics 113:1573-1581
5. Comeau AM, Accurso FJ, White TB et al. (2007) Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report. Pediatrics 119:2e495-e518
6. Cystic Fibrosis Foundation (CFF 2009) Newborn screening. http://www.cff.org/AboutCF/Testing/NewbornScreening/. Accessed November 27, 2009
7. Farrell PM, Rosenstein BJ, White TB et al. (2008) Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 153(2): S4-S14
8. Grosse SD, Boyle CA, Botkin JR, Comeau AM, Kharrazi M, Rosenfeld M, Wilfond BS (2004) Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep 53 (RR-13):1-36
9. Massachusetts Department of Public Health (2009) Massachusetts births 2007. Division of Research and Epidemiology, Bureau of Health Information, Statistics, Research, and Evaluation, Boston. http://www.mass.gov/Eeohhs2/docs/ dph/research-epi/birth-report-2007.pdf.Accessed April 13, 2010
10. Therrell B (2009) National newborn screening status report (2009). National Newborn Screening and Genetics Resource Center, Austin. http://genes-r-us.uthscsa.edu/nbsdisorders.htm. Accessed December 31, 2009
11. Watson MS, Desnick RJ, Grody WW, Mennuti MT, Popovich BW, Richards CS (2002) Cystic fibrosis carrier screening: issues in implementation. Genet Med 4:407-409
12. Watson MS, Mann MY, Lloyd-Puryear, Rinaldo P (2006) Newborn screening: toward a uniform screening panel and system. Genet Med Suppl 1:1S-252S