Newborn blood spot screening standards

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Document Type

Standards

Summary

The national pregnancy and newborn screening programme covers a range of screening tests for specific conditions.

These standards relate to newborn blood spot screening for:

  • cystic fibrosis
  • sickle cell disease
  • congenital hypothyroidism
  • six inherited metabolic disorders. These are phenylketonuria, medium-chain acyl-CoA dehydrogenase deficiency, maple syrup urine disease, isovaleric acidaemia, glutaric aciduria type 1 and homocystinuria.

All newborn babies are offered a blood spot screening test between 96-120 hours (4-5 days). The test is done by taking a blood sample from the baby’s heel. The sample is checked to find out whether the baby is unaffected, a health carrier or has the screened for condition.

Overview of standards

Standard 1: Information provision and informed decision making

Parents and carers are supported to make informed decisions about newborn blood spot screening.

Standard 2: Offer of newborn blood spot screening

NHS boards ensure newborn blood spot screening is offered to all registered babies.

Standard 3: Newborn blood spot sampling and results

NHS boards ensure that newborn blood spot sampling is high-quality with timely reporting of results.

Standard 4: Laboratory processes and results reporting

The Scottish Newborn Screening Laboratory undertakes sample testing and reporting of results in line with nationally agreed standards and protocols.

Standard 5: Specialist support and care planning following a positive result

NHS boards ensure babies with a positive screening result are offered multidisciplinary specialist support and care planning.

These standards are a review of the 2019 pregnancy and newborn screening – newborn blood spot screening standards

The remaining pregnancy and newborn screening standards will be reviewed at a later date and remain current. These are:

  • Haemoglobinopathies in pregnancy
  • Infectious diseases in pregnancy
  • Newborn hearing screening

The newborn bloodspot screening standards are complemented by the core screening standards, which covers:

  • Leadership and governance in screening programmes
  • Quality assurance
  • Screening incident management and reporting
  • Staff training and education
  • Informed decision making
  • Equity in screening