Guidance

Newborn blood spot screening pathway requirements specification

Published 21 June 2021

Applies to England

© Crown copyright 2021

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This publication is available at https://www.gov.uk/government/publications/newborn-blood-spot-screening-pathway-requirements-specification/newborn-blood-spot-screening-pathway-requirements-specification

This document provides an overview of newborn blood spot screening by describing what should happen at each stage of the pathway. It should be read alongside other guidance for the NHS Newborn Blood Spot (NBS) Screening Programme, including:

Please also read the general information relevant to all the NHS screening programme pathways.

Newborn blood spot screening

The NHS offers NBS screening to all newborn babies.

The purpose of the NBS screening programme is to enable the early identification, referral and treatment of babies with 9 rare but serious conditions. These are:

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

The NBS test uses a blood sample that is taken from a baby’s heel and spotted onto a special card containing the baby’s and mother’s details (the ‘heel prick test’). This should be performed on day 5 (day of birth is counted as day 0). The sample taker sends the blood spot card to a regional newborn screening laboratory for testing. Parents or carers will be contacted as soon as possible if their baby has a screen positive result so that treatment can be started as soon as it can be arranged.

Find out more about NBS screening in the programme overview.

End-to-end pathway

The NBS screening pathway consists of the following elements.

The dotted boxes and numbered labels show how the different parts of the pathway map to the generic headings used below.

An accessible text-only version of this pathway is also available.

1. Before screening test

These requirements relate to making sure that screening is offered to the correct people.

Providers must have systems in place to:

  • maintain accurate records of the eligible population
  • make sure women receive verbal and digital information about NBS screening during pregnancy
  • make sure women who are unable to access the digital version of Screening tests for you and your baby (STFYAYB) are given a physical copy
  • make sure women are signposted to, or given STFYAYB translations or STFYAYB easy guides as appropriate
  • establish whether there is a family history for any of the conditions screened for so that an additional early NBS screening test can be offered if required (see NBS programme handbook: family history for more information)
  • make sure that NBS screening is offered to all newborn babies and that parents or carers are asked for their verbal consent
  • make sure that all eligible babies that move in and become the responsibility of the integrated care board (ICB) (previously the clinical commissioning group (CCG)) are offered screening up to but not including their first birthday (this excludes testing for CF, which is unreliable after 8 weeks of age)
  • maintain clear and accurate records of the parent or carer decision in line with local guidelines
  • make sure all babies are tracked through from the offer of screening to the end of the pathway
  • maintain accurate and up-to-date information on the NBS failsafe solution (NBSFS)
  • communicate specific issues effectively between midwifery and the sample taker, such as if the parents or carers need an interpreter
  • encourage all healthcare professionals who offer the NBS screening test to complete the NBS screening programme e-learning resources on a regular basis

Refer to the NBS programme handbook: family history for additional details.

2. Screening test

These requirements relate to the processes of carrying out the screening test.

Coverage

Providers must have systems in place to return data for the:

Carrying out the screening test

Providers must have systems in place to:

Refer to the NBS screening sampling guidelines for additional details.

Screening outcome and referral

Providers must have systems in place to:

  • make sure that parents or carers are contacted as soon as possible by an appropriately trained healthcare professional if their baby has a screen positive result for one or more of the conditions
  • make sure that parents or carers receive their baby’s ‘not suspected’ or ‘carrier’ NBS screening results by 6 weeks of birth (new birth population) or by 6 weeks of notification of movement in (movers in population)
  • make sure that the baby’s NBS screening results are recorded on the NBSFS and the sickle cell and thalassaemia outcome system
  • make sure that the results of any repeat samples are reported to the baby’s parents or carers within 14 days of taking the sample
  • refer babies who have a screen positive result to the appropriate specialist clinical team for diagnostic tests and treatment (if required)
  • make sure that parents or carers are provided with verbal information and the relevant condition-specific leaflets following a screen positive result
  • make sure that women who are unable to access the digital versions of the condition-specific leaflets are given a physical copy
  • refer babies who have a screen positive result to the appropriate specialist clinical team for diagnostic tests and treatment (if required)
  • make sure all referrals are recorded
  • notify the appropriate healthcare services (including the baby’s GP, health visitor (HV) and child health records department (CHRD)) of the screen positive results
  • return data for the:

3. After screening test (diagnosis)

These requirements relate to the process of following-up screen positive results to get a confirmed result.

Providers must have systems in place to:

  • make sure that the relevant diagnostic tests are completed according to the clinical referral guidelines
  • refer babies who have a screen positive result to the appropriate specialist clinical team

4. After screening test (intervention)

These requirements relate to the process of following-up people with a confirmed diagnosis and maximising the overall benefits from screening in terms of the final outcome to the person being screened.

Intervention and treatment

Providers must have systems in place to:

Pathway outcome

Providers must have systems in place to:

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