The magnitude and challenge of false-positive newborn screening test results

Archives of Pediatrics and Adolescent Medicine

Volumn 154, Issue 7, 2000, Pages 714-718

  Kwon, Charles ^a   Farrell, Philip M ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

BIOTINIDASE;

ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; ENDOCRINE DISEASE; ENZYME DEFICIENCY; GALACTOSEMIA; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; METABOLIC DISORDER; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA; PRIORITY JOURNAL; UNITED STATES;

EID: 0033918898     PISSN: 10724710     EISSN: None     Source Type: Journal    
DOI: 10.1001/archpedi.154.7.714     Document Type: Article

References (19)

1. Guthrie R. The origin of newborn screening. Screening. 1992;1:5-15.
2. Stoddard JJ, Farrell PM. State-to-state variations in newborn screening policies. Arch Pediatr Adolesc Med. 1997;151:561-564.
3. Therrell BL Jr. Laboratory Methods for Neonatal Screening. Washington, DC: American Public Health Association; 1993.
4. Kuory MJ, and the Genetics Working Group. From genes to public health: the applications of genetic technology in disease prevention. Am J Pub Health. 1996; 86:1717-1722.
5. Allen DB, Farrell PM. Newborn screening: principles and practice. Adv Pediatr. 1996;43:231-270.
6. Sackett DL, Haynes RB, Tugwell P. Clinical Epidemiology: A Basic Science for Clinical Medicine. Boston, Mass: Little Brown & Co Inc; 1985.
7. LaFranchi SH, Hanna Ce, Krainz PL, et al. Screening for congenital hypothyroidism with specimen collection at two time periods: results of the Northwest Regional Screening Program. Pediatrics. 1985;76:734-740.
8. Sorenson JR, Levy HL, Mangione TW, et al. Parental response to repeat testing of infants with "false-positive" results in a newborn screening program. Pediatrics. 1984;73:183-187.
9. Tluczek A, Mischler EH, Bowers B, et al. Psychosocial impact of false-positive results when screening for cystic fibrosis. Pediatr Pulmonol. 1991;57:29-37.
10. Newborn Screening Committee, the Council of Regional Networks for Genetic Services (CORN). National Newborn Screening Report. Atlanta, Ga: CORN; 1999.
11. Aldis B, Hoffman G, Therrell BL. Laboratory methods for phenylalanine analysis on newborn screening specimens. In: Therrell BL. ed. Laboratory Methods for Neonatal Screening. Washington, DC: American Public Health Association; 1993; 47-75.
12. Scriver CR, Kaufman S, Woo SLC. The hyperphenylalaninemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease, 6th ed. New York, NY: McGraw-Hill Co; 1989;495-546.
13. Levy HL. Neonatal screening for galactosemia. In: Wilcken B, Webster D, eds. Neonatal Screening in the Nineties. Manly Vale, Australia: Kelvin Press; 1991; 175-180.
14. Pang S, Wallace MA, Hofman L, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics. 1988;81:866-874.
15. Therrell BL, Prentice L, Brown LO, Berenbaum SA. Screening for congenital adrenal hyperplasia in Texas: two years experience. In: Wilcken B, Webster D, eds. Neonatal Screening in the Nineties. Manly Vale, Australia: Kelvin Press; 1991; 210-212.
16. Allen DB, Sieger JE, Litsheim T, Duck SC. Age-adjusted thyrotropin criteria for neonatal screening for hypothyroidism. J Pediatr. 1990;117:309-312.
17. Allen DB, Hoffman GL, Fitzpatrick P, et al. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. J Pediatr. 1997;130:128-133.
18. Scriver Cr. Phenylketonuria: genotypes and phenotypes [editorial]. N Engl J Med. 1991;324:1280-1281.
19. Farrell MH, Certain LK, Farrell PM. Practices and attitudes about genetic and other risk communication services among newborn screening programs [abstract]. Pediatr Res. 1999;45:123A.