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Newborn blood spot screening

Published on 08 October 2020

Examining a baby is not always enough to pick up certain serious conditions. A blood test can detect these. So, all newborn babies in Scotland will be offered a blood spot test.

We have a coordinating role in the provision of newborn screening programmes. Supporting the NHS boards and national multidisciplinary groups, we also help develop specifications, protocols and guidance for the programmes to follow. This ensures consistency across the country. Finally, we assist in monitoring and evaluating the programmes.

Who gets newborn blood spot screening and how does it work?

Every baby is offered newborn blood spot screening, which is also known as the heel prick test. Ideally this occurs between 96 to 120 hours of life (or four to five completed days). Day of birth is day zero.

Newborn blood spot screening involves taking a blood sample from the baby’s heel to find out if the baby has one of nine rare but serious health conditions. The blood is then put onto a card and sent for testing.

A newborn blood spot card must be completed for all babies, even if all tests are declined. Written consent from a parent is required before the blood spot sample will be taken.

Most babies who receive screening will not have any of the conditions. But, for the small numbers that do, the benefits of screening are enormous. Early treatment can improve health and prevent severe disability or even death.

If it's suspected that a baby has one of the conditions, clinical referral to a healthcare expert will be made and confirmatory testing arranged.

The programme screens for the following conditions:

  • phenylketonuria (PKU)
  • congenital hypothyroidism (CHT)
  • cystic fibrosis (CF)
  • medium chain acyl-CoA dehydrogenase deficiency (MCADD)
  • sickle cell disorder (SCD)
  • maple syrup urine disease (MSUD)
  • isovaleric acidaemia (IVA)
  • glutaric aciduria type 1 (GA1)
  • homocystinuria (HCU)

Further information for participants:

Find more information about the Newborn Screening Programme on the NHS Inform website. This includes details such as:

  • what happens during the test
  • what happens if you opt out
  • further information about the benefits of testing

The 'Your baby! Tests offered' booklet is also available from the NHS Health Scotland website. It provides more detailed descriptions of each condition.

Further information for health professionals:

Find the screening indicators for the programme on the NHS Healthcare Improvement Scotland website.

NSD contact

Senior Programme Manager, Lyn Hutchison – lyn.hutchison@nhs.scot – 0131 2756412