About this release

This release by Public Health Scotland is focused on congenital anomalies. It provides current best estimates of the number of babies with serious anomalies among pregnancies ending in Scotland up to 2019. It also provides an update to the project, started in 2018, to set up a national congenital anomaly register for Scotland.

Main points

  • 1,512 babies with a serious congenital anomaly were identified among pregnancies ending in Scotland in 2019. This is 305.5 per 10,000 total (live and still) births.
  • 1,196 (79%) of these babies were live born. This is 242.5 per 10,000 live births. This means that around 1 in 41 babies born alive in Scotland in 2019 had a serious congenital anomaly.
  • Overall, the commonest group of anomalies seen was congenital heart defects (371 babies with a CHD; 75 per 10,000 total births).
Image caption Total birth prevalence of major structural and chromosomal anomalies in Scotland, 2019
A bar chart of birth prevalence for each anomaly group. It shows that the majority of anomalies happen in babies without a known genetic condition except for those groups which are genetic by definition. It also shows that congenital heart defects are the most common group of anomalies.
  • Among the specific anomalies included in the antenatal screening programme, the commonest condition seen was Down’s syndrome (trisomy 21) (87 babies with Down’s syndrome; 17.6 per 10,000 total births).
  • The birth prevalence of anomalies increased from the mid 2000s to a peak in 2015. Subsequently, prevalence fell sharply to 2018, before increasing again slightly in 2019. Trends over time in anomaly 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 anomalies.


Congenital anomalies are variations of body structure or function which are present from birth. They are the result of a variation in the process of development of a baby in the womb. A baby’s anomaly (or anomalies) 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, anomalies can be detected during pregnancy through antenatal screening.

Public Health Scotland is currently working to establish a national congenital anomaly register. Scotland does not currently maintain a national register of babies with anomalies. This makes it difficult to monitor how many babies are affected and to plan services to meet their needs. In 2018, the Scottish Government asked ISD to set up a national congenital anomaly register. On 1 April 2020, ISD became part of Scotland’s new national public health agency, Public Health Scotland (PHS). The work is therefore now being taken forward by PHS. The register will be known as the Congenital Anomalies and Rare Diseases Registration and Information Service for Scotland (CARDRISS). We expect CARDRISS to be established by the end of 2021, and to register babies born from January 2021 onwards.

Whilst we work to set up CARDRISS, we have used existing national records to produce the estimates of the number of babies with anomalies from 2000 onwards provided in this publication. Information is provided on the number of babies with a serious congenital anomaly such as a major structural anomaly or a chromosomal anomaly. 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 CARDRISS can be used as the source of national statistics on anomalies.

Further information

The next release of this publication will be October 2022.

General enquiries

If you have an enquiry relating to this publication, please email phs.cardriss@phs.scot.

Media enquiries

If you have a media enquiry relating to this publication, please contact the Communications and Engagement team.

Requesting other formats and reporting issues

If you require publications or documents in other formats, please email phs.otherformats@phs.scot.

To report any issues with a publication, please email phs.generalpublications@phs.scot.

Older versions of this publication

Versions of this publication released before 16 March 2020 may be found on the Data and Intelligence, Health Protection Scotland or Improving Health websites.

Last updated: 21 March 2024
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