Congenital conditions in Scotland
2000 to 2021

About this release

This release by Public Health Scotland (PHS) is focused on congenital conditions. It provides current best estimates of the number of babies with congenital conditions among pregnancies ending in Scotland up to 2021. It also provides an update to the project, started in 2018, to set up a national congenital condition register for Scotland.

Main points

• 1,442 babies with a congenital condition were identified among pregnancies ending in Scotland in 2021. This is 298.5 per 10,000 total (live and still) births.
• 1,115 (77%) of these babies were live born. This is 231.7 per 10,000 live births. This means that around 1 in 43 babies born alive in Scotland in 2021 had a congenital condition.
• Overall, the commonest group of conditions seen was congenital heart diseases (344 babies with a CHD; 71.2 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, 2021

• Among the specific conditions included in this report that are covered by the antenatal screening programmes, the commonest condition seen was Down syndrome (trisomy 21) (77 babies with Down syndrome; 15.9 per 10,000 total births).
• The birth prevalence of congenital conditions increased from the late 2000s to a peak in 2015. Prevalence fell sharply from 2015 to 2018 then has been broadly stable up to 2021. Trends over time 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 babies’ 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). In June 2023 the CARDRISS register began registering babies with relevant conditions from pregnancies ending in 2021. This publication uses SLiCCD to provide current best estimates of the number of babies with a congenital condition from pregnancies ending in Scotland in 2000 to 2021 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. Once the CARDRISS register contains complete information for 2021 registrations, and appropriate data quality assessments have been made, we will transfer from SLiCCD to the register as the source of national statistics on congenital conditions.

Further information

The next release of this publication will be October 2024.