Congenital conditions in Scotland
2000 to 2018

About this release

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

Main points

• 1,413 babies with a serious congenital anomaly were identified among pregnancies ending in Scotland in 2018. This is 274.4 per 10,000 total (live and still) births.
• 1,144 (81%) of these babies were live born, 222.9 per 10,000 live births. This means that around 1 in 45 babies born alive in Scotland in 2018 had a serious congenital anomaly.
• Overall, the commonest group of anomalies seen was congenital heart defects (353 babies with a CHD; 68.5 per 10,000 total births).

• Among the specific anomalies included in the antenatal screening programme, the commonest anomaly seen was Down's syndrome (trisomy 21) (90 babies with Down's syndrome; 17.5 per 10,000 total births).
• The birth prevalence of anomalies increased from the mid-2000s to a peak in 2015, but has since fallen. It is likely that at least some of the recent fall is due to problems in the quality of data on babies discharged from neonatal care that is submitted to PHS from NHS Boards. PHS is currently working with NHS Boards to address this data quality issue.

Background

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.

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 ready to register babies with anomalies from 2022 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 2021.