Newborn bloodspot screening in Scotland
Newborn screening for cystic fibrosis, sickle cell disease, congenital hypothyroidism, and inherited metabolic disorders 1 January 2021 to 31 December 2025

About this release

This is the first annual release from Public Health Scotland (PHS) providing information on newborn bloodspot screening in Scotland for the calendar years 2021 to 2025.

For babies born in 2021-2025 inclusive, the newborn bloodspot screening programme offered testing for the following nine conditions:

• cystic fibrosis (CF)
• sickle cell disease (SCD) or another significant haemoglobinopathy
• primary congenital hypothyroidism (CHT)
• inherited metabolic disorders (IMDs) (specifically, phenylketonuria (PKU), medium-chain acyl-CoA dehydrogenase deficiency (MCADD), maple syrup urine disease (MSUD), pyridoxine unresponsive homocystinuria (HCU), isovaleric acidaemia (IVA), and glutaric aciduria type 1 (GA1))

Screening aims to identify babies who may have one of these conditions so that timely intervention and treatment can be provided to improve outcomes.

This first release provides information on the number of babies eligible for, and the coverage and results of, newborn bloodspot screening. The coverage of screening is defined as the percentage of eligible babies who had screening (that is, who had a screening result available).

Main points

Among 44,934 babies born in 2025 who were eligible for newborn bloodspot screening:

• 99.7% (44,807 / 44,934) received newborn bloodspot screening
• 88.6% (39,798 / 44,934) received screening at the recommended age (4 to 5 completed days of age)

Among the 44,807 babies who received screening, 95 (21 per 10,000 screened babies) had at least one of the nine screened-for conditions suspected.

• The most common conditions suspected were primary congenital hypothyroidism (49 babies, 11 per 10,000 screened babies), followed by cystic fibrosis (20 babies, 4 per 10,000) and sickle cell disease or another significant haemoglobinopathy (16 babies, 4 per 10,000). Each of the inherited metabolic disorders was uncommon.

Information is also provided on how the coverage and results of newborn bloodspot screening varied by calendar year and maternal and baby characteristics, for example:

• coverage of screening was high across all groups of babies in all years
• the age at which babies received screening varied by maternal NHS board area of residence
• the rate of screened babies that had at least one condition suspected varied by baby ethnicity, and broadly increased over time.

This figure shows the rate of screened babies that had at least one of the screen-for conditions suspected following newborn bloodspot screening by year of birth from 2021 to 2025. The horizontal axis shows year of birth, and the vertical axis shows the rate per 10,000 screened babies, ranging from 0 to 25. The rate increased from 17 per 10,000 babies in 2021, to 19 per 10,000 babies in 2023, 20 per 10,000 babies in 2023, and 25 per 10,000 in 2024. The rate then decreased to 21 per 10,000 babies in 2025.

Close

Rate per 10,000 screened babies that had at least one of the screened-for conditions suspected, Scotland, 2021 to 2025

Background

These statistics were developed as part of a programme of work funded by the Scottish Government Chief Scientist Office to develop national data and intelligence on pregnancy and newborn screening and the associated conditions in Scotland (award reference: AHRP/23/77).

These statistics relate to the following national policies: the Scottish equity in screening strategy 2023 to 2026 and the Rare Disease Action Plan.

Summary information on the newborn bloodspot screening programme is available on NHS Inform.

Newborn bloodspot screening is highly recommended, however as screening is provided on the basis of informed choice, if parents choose to decline screening that would be respected. It is possible for parents to accept screening for selected conditions only. However, as all IMDs are tested together, parents must accept or decline screening for all IMDs as a group.

These statistics use data from the Scottish Linked Pregnancy and Baby Dataset (SLiPBD) to identify babies eligible for newborn bloodspot screening, and a new data return from the Scottish Newborn Screening Laboratory to identify babies who received screening, and their screening results.

PHS publishes statistics on the pregnancy chromosomal condition screening programme for Down's syndrome, Edwards' syndrome, and Patau's syndrome and on the pregnancy infectious diseases screening programme.

Further information

The next release of this publication will be September 2027.