In many countries, all newborns are screened for several diseases, most of which are inherited.
Keywords: genetic screening; genetic tests; neonatal screening; newborn screening
Neonatal Screening
Neil A Holtzman, Johns Hopkins University, School of Medicine and School of Public Health, Baltimore, Maryland, USA
Published online: January 2006
DOI: 10.1038/npg.els.0005572
| References | |
| book Andrews L, Fullarton JE, Holtzman NA and Motulsky AG (eds.) (1994) Assessing Genetic Risks: Implications for Health and Social Policy., 1st edn. Washington DC: National Academy Press. | |
| book Committee for the Study of Inborn Errors of Metabolism (1975) Genetic Screening: Programs, Principles, and Research. Washington DC: National Academy of Sciences. | |
| Dipple KM and McCabe ER (2000) Modifier genes convert ‘simple’ mendelian disorders to complex traits. Molecular Genetics and Metabolism 71: 43–50. | |
| Faden R, Chwalow AJ, Holtzman NA, Horn SD (1982) A survey to evaluate parental consent as public policy for neonatal screening. American Journal of Public Health 72(12): 1347–1352. | |
| Farrell PM, Kosorok MR, Laxova A, et al (1997) Nutritional benefits of neonatal screening for cystic fibrosis. New England Journal of Medicine 337(14): 963–969. | |
| Gaston MH, Verter JL, Woods G, et al. (1986) Prophylaxis with oral penicillin in children with sickle cell anemia: a randomized trial. New England Journal of Medicine 314: 1593–1599. | |
| Guthrie R (1961) Blood screening for phenylketonuria. Journal of the American Medical Association 178: 863. | |
| Holtzman C, Slazyk WE, Cordero JF and Hannon WH (1986) Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism. Pediatrics 78(4): 553–558. | |
| Holtzman NA, Kronmal RA, van Doorninck W, Azen C and Koch R (1986) Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria. New England Journal of Medicine 314: 593–598. | |
| book Holtzman NA and Watson MS (eds.) (1998) Promoting Safe and Effective Genetic Testing in the United States. Final Report. Baltimore, MD: Johns Hopkins University Press. | |
| Levy HL and Albers S (2000) Genetic screening of newborns. Annual Review of Genomics and Human Genetics 1: 139–177. | |
| Parsons E, Bradley D and Clarke A (1996) Disclosure of Duchenne muscular dystrophy after newborn screening. Archives of Disease in Childhood 74: 550–553. | |
| Pollit RJ, Green A, McCabe CJ, et al. (1997) Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technology Assessment 1(7). | |
| Further Reading | |
| Newborn Screening Task Force (2000) Serving the family from birth to the medical home; A report from the newborn screening task force convened in Washington DC, May 10–11, 1999. Pediatrics. 106 (2, Supplement 2): 383–427. | |
| Web Links | |
| ePath Secretary's Advisory Committee on Genetic Testing. For information on regulation of genetic tests in the United States http://www4.od.nih.gov/oba/sacgt.htm | |
| ePath GeneTests GeneClinics. A publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons http://www.genetests.org | |
