Survey of scope of neonatal screening in the United Kingdom

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Abstract
The national neonatal screening programme for phenylketonuria was established in 1969, with screening for congenital hypothyroidism being added in 1981. The aim of the programme is to reduce morbidity by complete and timely detection and treatment of affected cases. Scientific developments mean that many other disorders can be screened for.1 The extent of screening in the United Kingdom is uncertain and not all proposed screening programmes meet, or have been formally assessed against, the criteria of suitability.2 Also, the loss of regional responsibility for overview of programmes may result in district based decisions about the purchase of screening programmes in the future. The main aim of this survey was to identify the nature and extent of screening for disorders other than phenylketonuria and congenital hypothyroidism by the national programme. In May 1993 an anonymous questionnaire was sent to all 28 of …