Effect of newborn screening for congenital adrenal hyperplasia

Archives of Pediatrics and Adolescent Medicine

Volumn 153, Issue 12, 1999, Pages 1272-1278

  Brosnan, Patrick G ^a   Brosnan, Christine A ^a   Kemp, Stephen F ^a   Domek, David B ^a   Jelley, David H ^a   Blackett, Piers R ^a   Riley, William J ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; DISEASE ASSOCIATION; EARLY DIAGNOSIS; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; INCIDENCE; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; POPULATION RISK; PRIORITY JOURNAL; STATISTICAL ANALYSIS; UNITED STATES;

EID: 0032757372     PISSN: 10724710     EISSN: None     Source Type: Journal    
DOI: 10.1001/archpedi.153.12.1272     Document Type: Article

References (34)

1. Guthrie R. The origin of newborn screening. Screening. 1992;1:5-15.
2. Holtzman NA. Genetic screening and public health. Am J Public Health. 1997; 87:1275-1277
3. Thomason MJ, Lord J, Bain MD, et al. A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism. J Public Health Med. 1998;20:331-343.
4. Pang S, Clark A. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening. 1993;2:105-139.
5. 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.
6. Therrell BL, ed. US national screening status report. Infant Screening. 1998;21: 13.
7. Larsson A, von Döbelin U, Guthenberg C, Hagenfeldt L, Thilén A. Congenital adrenal hyperplasia: unsolved questions in neontal screening. In: Farriaux J-P, Dhondt J-L, eds. New Horizons in Neonatal Screening. New York, NY: Elsevier Science BV; 1994:155-160.
8. Virdi NK, Rayner PH, Rudd BT, Green A. Should we screen for congenital adrenal hyperplasia? a review of 117 cases. Arch Dis Child. 1987;62:659-662.
9. Therrell BL, Berenbaum SA, Manter-Kapanke V, et al. Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics. 1998;101:583-590.
10. Brosnan CA, Brosnan P, Therrell BL, et al. A comparative cost analysis of newborn screening for classic congenital adrenal hyperplasia in Texas. Public Health Rep. 1998;113:170-178.
11. Therrell BL, Berenbaum SA. Screening for congenital adrenal hyperplasia: the need for uniform data collection. Infant Screening. 1992;15:18, 23.
12. Donohoue PA, Parker K, Migeon CJ. Congenital adrenal hyperplasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol. 2. 7th ed. New York, NY McGraw-Hill; 1995:2929-2966.
13. Kleinbaum D, Kupper L, Morgenstern H. Epidemiologic Research. New York, NY: Van Nostrand Reinhold; 1982.
14. Rosner B. Fundamentals of Biostatistics Boston, Mass: PWS-Kent; 1990.
15. Chamberlain J. Which prescriptive screening programmes are worthwhile? J Epidemiol Community Health. 1984;38:270-277.
16. Pang S, Hotchkiss J, Drash AL, Levine LS, New MI. Microfilter paper method for 17 α-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal nyperplasia. J Clin Endocrinol Metab. 1977;45:1003-1008.
17. Hirschfeld AJ, Fleshman JK. An unusually high incidence of salt-losing congenital adrenal hyperplasia in the Alaskan Eskimo. J Pediatr. 1969;75:492-494.
18. Pang S, Murphey W, Levine LS, et al. A pilot newborn screening for congenital adrenal hyperplasia in Alaska. J Clin Endocrinol Metab. 1982;55:413-420.
19. Lebovitz RM, Pauli RM, Laxova R. Delayed diagnosis in congenital adrenal hyperplasia. AJDC. 1984;138:571-573.
20. Thompson R, Seargeant L, Winter JSD. Screening for congenital adrenal hyperplasia: distribution of 17 α-hydroxyprogesterone concentrations in neonatal blood spot specimens. J Pediatr. 1989;114:400-404.
21. Suwa S. Nationwide survey of neonatal mass-screening for congenital adrenal hyperplasia in Japan. Screening. 1994;3:141-151.
22. Balsamo A, Cacciari E, Piazzi S, et al. Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995. Pediatrics. 1996;98(3 pt 1):362-367.
23. Thilén A, Larsson A. Congenital adrenal hyperplasia in Sweden 1969-1986. Acta Paediatr Scand. 1990;79:168-175.
24. Larsson A, Thilén A, Hagenfeldt L, von Döbeln U, Guthenberg C. Screening of half a million Swedish newborn infants for congenital adrenal hyperplasia. Screening. 1992;1:159-166.
25. Thilén A, Nordenström A, Hagenfeldt L, von Döbeln U, Guthenberg C, Larsson A. Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden. Pediatrics [serial online], 1998;101:1-5. Available at: http://www.pediatrics.org. Accessed September 8, 1999.
26. New MI, Gertner JM, Speiser PW, DeBalzo P. Growth and final height in classical and nonclassical 21-hydroxylase deficiency. J Endocrinol Invest. 1989;12 (suppl 3):91-95.
27. Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet. 1985; 37:650-667.
28. Therrell BL, Berenbaum SA. Difficulties in CAH diagnosis associated with newborn screening. In: Farriaux J-P, Dhondt J-L, eds. New Horizons in Neonatal Screening. New York, NY: Elsevier Science BV: 1994:169-172.
29. Sorenson JR, Levy HL, Mangione TW, Sepe SJ. Parental response to repeat testing of infants with "false-positive" results in a newborn screening program. Pediatrics. 1984;73:183-187.
30. Tluczek A, Mischler EH, Farrell PM, et al. Parents knowledge of neonatal screening and response to false-positive cystic fibrosis testing. J Dev Behav Pediatr. 1992;13:181-186.
31. Cutfield WS, Webster D. Newborn screening for congenital adrenal hyperplasia in New Zealand. J Pediatr. 1995;126:118-121.
32. Wilson JM, Jungner G. Principles and Practice of Screening for Disease: Public Health Papers 34. Geneva, Switzerland: World Health Organization; 1968:11-38.
33. Therrell BL, Panny SR, Davidson A, et al. US Newborn Screening System Guidelines: statement of the Council of Regional Networks for Genetic Services. Screening. 1992;1:135-147.
34. Winter RJ, Klingensmith GJ. Congenital adrenal hyperplasia: mortality experience. In: Lee PA, Plotnick L, Kowarski A, Migeon CJ, eds. Congenital Adrenal Hyperplasia. Baltimore, Md: University Park Press: 1977:339-344.