Newborn Blood Spot Screening

The Newborn Blood Spot Screening Programme includes screening for:

  • Phenylketonuria
  • Congenital Hypothyroidism
  • Cystic Fibrosis
  • Medium Chain Acyl CoA Dehydrogenase Deficiency
  • Sickle Cell Disorder

From the 20th March 2017 newborn bloodspot screening was expanded to include 4 additional Inherited Metabolic Disorders (IMDs):

  • Maple Syrup Urine Disease (MSUD)
  • Isovaleric acidaemia (IVA)
  • Glutaric Aciduria type 1 (GA1)
  • Homocystinuria (HCU)

In addition the offer of screening for babies who have missed screening was expanded to up to 1 year of age(previously it was up until 6 months of age). Except for CF as the results are not accurate beyond 8 weeks of age.

The CMO letter relating to this can be found here CMO letter – Expanded Bloodspot Testing – February 2017

The newborn screening pathway extends from a single entry point where parents are provided with information about newborn screening to one of two exit points:

  • Condition(s) not suspected
  • Condition(s) suspected – clinical referral initiated

Every baby born in Scotland is eligible for and routinely offered screening (approximately 60,000 per year). From the implementation of expanded screening on the 20th March 2017 the 6 Inherited metabolic disorders (PKU, MCADD, MSUD, GA1, IVA and HCU) are offered as a package so screening is either for all of the conditions or none of them. Parents may decline any or all of the tests (the 6 IMD conditions count as one test) and they must be informed that their baby remains eligible for screening within the Programme up to 1 year of age .

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.

The blood spot sample should ideally be taken between 96-120 hours of life (4-5 completed days), day of birth is day 0, and sent to the laboratory on the day of sampling. In exceptional circumstances samples can be sent between day 5 and day 8. Sometimes it is necessary to take more than one blood spot sample for clinical reasons.  All newborn blood spot testing is carried out in the Scottish Newborn Screening Laboratory (SNSL), Glasgow.

Every child  who moves into an NHS Board and/or where no previous screening has been recorded is eligible for and should be offered relevant tests until they are 1 year of age) provided the sample can be taken before their first birthday) after the 20th March 2017.

From 20th March 2017

  • If a child is under a year of age (up to but not including their first birthday) and has no documented results (or declines) for all five conditions screened for before the expansion of the programme, screening should be offered for all the untested conditions (including the four additional inherited metabolic diseases) only if the blood spot sample can be taken before they reach a year of age
  • If for a child under a year of age, there are documented results (or declines) for all five conditions screened for in Scotland before the expansion of the programme (SCD, CF, CHT, PKU and MCADD), screening should not be offered for the four additional inherited metabolic diseases (MSUD, IVA, GA1 and HCU).

The following resources have been developed:

 2018 Newborn Bloodspot Sampling Guidelines v1

A Consent Form template 2017 v1.0  has been developed to ensure that written consent is gained for all nine conditions screened for by the Newborn Blood Spot Screening Programme from 20th March 2017.

Service specification 2017 Newborn Bloodspot programme service specification v1.0

National Protocols 2018 – Newborn bloodspot Screening Protocols – v1

Screening pathway from 20th March 2017 Visio-2017 patient pathway

Newsletter – Expanded newborn Screening V1.0

2017 Expanded newborn screening and extension of screening offer up until 1 year of age HP flyer v1

2018 Newsletter – Changes to the newborn bloodspot card

If you would like to view these documents, please click on the links contained in the document names.