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Screenwatch: Neonatal screening

National Audit of the Neonatal (Guthrie) Screening Programme

A multi disciplinary workshop was held at the Royal College of Physicians to set structure, process and outcome of a national audit of the Neonatal Screening Programme. An audit of the programme has been funded by the Department of Health.

Neonatal screening

In the UK the neonatal screening programme was set up in 1969 to screen blood samples of babies aged 5 -10 days old for phenylketonuria (PKU). Screening for congenital hypothyroidism was added in 1982. Locally more tests are being added to the programme e.g. screening for cystic fibrosis, amino acid disorders and haemoglobinopathies. Some of these tests may become part of the national surveillance programme. It is timely to review the screening programme twenty years after its establishment and before it is extended.

Aims and objectives

The aims of the project are:
  • To develop national standards for the neonatal metabolic screening programme.
  • To compare practice against agreed standards nationally and to identify reasons for the failure to achieve standards.
  • To identify and encourage the implementation of the changes needed to achieve the standards set.
The objectives of the project are:
  • To facilitate the development of widely acceptable standards against which to audit the programme.
  • To determine the reported coverage of the screening programme in a range of districts and coverage by time, birth-weight, ethnic group and place of birth.
  • To identify the arrangements for monitoring the screening programme at district level and to relate these arrangements to coverage findings.
  • To disseminate the main findings of the audit and the recommendations for change required to achieve standards set.
  • To establish agreed methods for routinely monitoring the neonatal screening programme nationally.

Proposed Standards

1. Outcome

  • 95% of positive cases started on treatment by 21 days unless deliberately delayed for diagnostic reasons [N]
  • 100% of positive cases started on treatment by 35 days unless deliberately delayed for diagnostic reasons [N]

2. Process

  • 99% of live born infants whose births are notified to Director's of Public Health (denominator excludes 1st week deaths) [N]
  • 95% of results of first specimens available by 20 days after birth so that action may be taken [L]
  • 95% of specimens received by laboratory by fourth working day after sample being taken [L]
  • 90% of results available within 2 working days of receipt by lab (received by lab being day 0) [L]
  • 100% of untested infants identified by 28 days of age and sample obtained within 1 week [L]

3. Systems

a) Routine checking against birth notification register of specimens taken on total population in place
b) Centralised and routine checking that results are received and recorded on total population in place where held
c) Written information to all parents in advance of specimen being taken
d) All results should be recorded in the parent held child record
e) Laboratories registered in routine external quality assurance schemes
f) Routine and audited recording of results at site of birth notification
g) Nominated person responsible for monitoring the programme [purchaser]
h) Nominated person to co-ordinate progress for geographical area [provider]
[N] - National Standard: [L] - Local Standard
Mary Weston
National Screening Network, Summertown, Oxford




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