Congenital conditions in Scotland
2000 to 2020

This publication was revised on 1 August 2023. The revision includes an amendment to the ICD-10 code list used to identify congenital conditions and an update to all denominator data. Please refer to Appendix 5 in the technical report for detailed information regarding the changes.

About this release

This release by Public Health Scotland is focused on congenital conditions. It provides current best estimates of the number of babies with serious congenital conditions among pregnancies ending in Scotland up to 2020. It also provides an update to the project, started in 2018, to set up a national congenital condition register for Scotland.

Main points

• 1,375 babies with a serious congenital condition were identified among pregnancies ending in Scotland in 2020. This is 287.3 per 10,000 total (live and still) births.
• 1,047 (76%) of these babies were live born. This is 219.6 per 10,000 live births. This means that around 1 in 45 babies born alive in Scotland in 2020 had a serious congenital condition.
• Overall, the commonest group of conditions seen was congenital heart diseases (361 babies with a CHD; 75.4 per 10,000 total births).

A bar chart of birth prevalence for each congenital condition group. It shows that the majority of conditions happen in babies without a known genetic condition except for those groups which are genetic by definition. It also shows that congenital heart diseases are the most common group of conditions.

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Total birth prevalence of congenital conditions in Scotland, 2020

• Among the specific conditions included in the antenatal screening programme, the commonest condition seen was Down syndrome (trisomy 21) (88 babies with Down syndrome; 18.4 per 10,000 total births).
• The birth prevalence of congenital conditions increased from the mid 2000s to a peak in 2015. Subsequently, prevalence fell sharply from 2015 to 2018, before increasing again slightly in 2020. Trends over time in condition rates are likely to be influenced by data quality issues and changes in clinical and diagnostic practices as well as possibly genuine variation in the chance of congenital conditions.

Background

Congenital conditions are variations of body structure or function which are present from birth. A baby’s condition (or conditions) may be due to an underlying genetic variation, or exposure of the mother to factors that disrupt normal development. In many cases, no specific cause is found. Increasingly, conditions can be detected during pregnancy through antenatal screening.

The Congenital Conditions and Rare Diseases Registration and Information Service for Scotland (CARDRISS) was set up in 2018 to establish a new national, prospective register of babies with congenital and rare conditions (the CARDRISS register). As an interim measure whilst the register is being established, the CARDRISS team have brought together existing national records to produce a linked dataset on babies with congenital conditions (the Scottish Linked Congenital Condition Dataset, SLiCCD). As the CARDRISS register is not yet up and running, this publication uses SLiCCD to provide current best estimates of the occurrence of major congenital conditions among pregnancies ending in Scotland in 2000 to 2020 inclusive. Live born babies diagnosed before their first birthday; miscarriages and stillbirths from 20 weeks of pregnancy onwards; and terminations of pregnancy at any stage of pregnancy are all counted. We will update and publish these estimates every year until the CARDRISS register can be used as the source of national statistics on conditions.

Further information

The next release of this publication will be October 2023.