Newborn Screening Programmes


Newborn screening programmes are used to detect diseases in neonates by analysing a blood sample collected by heel‐prick, usually during the first week of life. Whereas early programmes were started with the aim of preventing mental retardation, advances in technology now mean that a variety of disorders, where treatment is more problematic, or even nonexistent, can be identified. This has broadened the scope of newborn screening and presents service providers with an increasing need to address issues about consent.

Keywords: newborn screening; informed consent; extended screening


American Academy of Pediatrics (2000) Report from the Newborn Screening Task Force. Pediatrics 106: 383–427.

Bradley DM and Parsons EP (1998) Neonatal screening for Duchenne muscular dystrophy. Seminars in Neonatology 3: 27–34.

Elias S and Annas GJ (1994) Generic consent for genetic screening. New England Journal of Medicine 330: 1611–1613.

Holtzman NA, Faden R, Chwalow AJ and Horn SD (1983) Effect of informed parental consent on mother's knowledge of newborn screening. Pediatrics 72: 807–812.

Listernick R, Frisone L and Silverman BL (1992) Delayed diagnosis of infants with abnormal neonatal screens. Journal of the American Medical Association 267: 1095–1099.

Maternal and Child Health Bureau (2005) Newborn screening: toward a uniform screening panel and system. Rockville, MD. (accessed 19th September 2007).

Parsons EP, Bradley DM and Clarke AJ (1996) Disclosure of Duchenne muscular dystrophy after newborn screening. Archives of Diseases in Childhood 74: 550–553.

Parsons EP, Clarke AJ and Bradley DM (2003) Implications of carrier identification in newborn screening for cystic fibrosis. Archives of Disease in Childhood 88: 91–92.

Parsons EP, Clarke AJ, Hood K and Bradley DM (2000) Feasibility of a change in service delivery: the case of optional newborn screening for Duchenne muscular dystrophy. Community Genetics 3: 17–23.

Parsons EP, Clarke AJ, Hood K, Lycett E and Bradley DM (2002) Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Archives of Disease in Childhood 86: 91–95.

Parsons EP, King JT, Israel JA and Bradley DM (2007) Mother's accounts of screening newborn babies in Wales (UK). Midwifery 23: 59–65.

Parsons EP, Moore C, Israel J, Hood K and Bradley DM (2005) Emphasizing parental choice on newborn screening. British Journal of Midwifery 13: 165–168.

Paul D (1999) Contesting consent: the challenge to compulsory neonatal screening for PKU. Perspectives in Biology and Medicine 42: 207–219.

Skrabanek P (1990) Why is preventive medicine exempt from ethical constraints? Journal of Medical Ethics 16: 187–190.

Streetly A and Corbett V (1998) The National Newborn Screening Programme: An Audit of Phenylketonuria and Congenital Hypothyroidism Screening in England and Wales. London, UK: The Printed Word.

Wildeman S and Downie J (2001) Genetic and metabolic screening of newborns: must health providers seek explicit parental consent? Health Law Journal 9: 1–51.

Further Reading

Health Council of the Netherlands (2005) Neonatal Screening. The Hague: Health Council of the Netherlands; publication no. 2005/11. (accessed 19th September 2007).

Pollitt RJ (2004) Compliance with science: consent or coercion in newborn screening. European Journal of Pediatrics 163: 757–758.

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How to Cite close
Parsons, Evelyn P, and Bradley, Don M(Jul 2008) Newborn Screening Programmes. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005637.pub2]