Chapter one

Figure 1 shows NCARDRS’ ten reporting regions. Seven regions have been collecting congenital anomaly data for some time. Those regions are:

- Northern
- Yorkshire and Humber
- East Midlands and South Yorkshire
- West Midlands
- Thames Valley
- Wessex
- South West

Three began congenital anomaly registration for births expected from 1 April 2017. Those regions are:

- North West
- London and South East
- East of England

The accompanying technical details section provides more information about geographical coverage of NCARDRS regions.

In 2015, congenital anomaly registration covered 21% births in England; the addition of 3 more regions for 2016 and 2017 took coverage to 49% of births. 2019 represents the second year of fully national congenital anomaly coverage for England.

Figure 1

Map of NCARDRS reporting regions England, 2019.

Congenital anomalies are defined as being present at delivery, likely originating before birth, and include structural, chromosomal and genetic anomalies. Data are collected in accordance with definitions and guidelines of the European Surveillance of Congenital Anomalies (EUROCAT) and the World Health Organization’s Collaborating Centre for the Surveillance of Congenital Anomalies at the University of Ulster. Congenital anomalies are coded using the International Classification of Disease version 10 (ICD-10) with British Paediatric Association (BPA) extension, which gives supplementary one-digit extensions to ICD-10 codes to allow greater specificity of coding. For more information about data collection, definitions and coding see the technical details section which accompanies this report.

In this report, comparisons were intentionally not made between previous years’ data. This is because:

• as a minimum, 3 years of comparable data are required to consider trend analysis, and this data are not available yet for England
• data are not directly comparable as regional coverage increased in 2016 and in 2018, and ascertainment is increasing annually because of improved data collection
• comparing year on year data could lead to unreliable conclusions based on small numbers

This 2019 report is organised in 4 further chapters covering information about:

• prevalence of congenital anomalies (chapter 2)
• timing of diagnosis and outcome (chapter 3)
• important public health indicators (chapter 4)
• data on Down’s syndrome, Edwards’ syndrome and Patau’s syndrome (chapter 5)

Information about the prevalence of congenital anomalies in chapter 2 outlines the types of anomaly most frequently reported to NCARDRS.

Chapter 3 describes the timing of diagnosis and the outcome of pregnancy. This shows important information about the number of babies born with congenital anomalies, some of whom will need ongoing health and social care service provision.

Currently available public health information is the focus of chapter 4. This includes estimates about the contribution made by congenital anomalies to perinatal and infant mortality rates, as well as information about how prevalence varies by maternal age.

Chapter 5 provides information on babies delivered in 2019, diagnosed with Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18) and Patau’s syndrome (Trisomy 13). This continues the longitudinal reporting that was conducted by National Down Syndrome Cytogenetic Register (NDSCR). These conditions are the only viable aneuploidies (wrong number of chromosomes) of the autosomes (non-sex chromosomes) and they are sufficiently common and serious to be included as part of routine antenatal screening in the NHS Fetal Anomaly Screening Programme (FASP).

A technical details section, detailed data tables and glossary for key terms are included within this report.

View the separate summary report, highlighting key messages about the prevalence of congenital anomalies.

Since publication of the report on 2018 births, there have been additions to the data sources for the registration of babies with congenital anomalies for the period covered in this report. Additions include the expansion of the anomalies ascertained using routine hospital activity datasets (Hospital Episode Statistics, HES) and validated according to a methodology developed by NCARDRS.

In 2018, babies recorded in HES with polydactyly (ICD10 codes: Q69.0, Q69.9), congenital cataract (ICD10 code: Q12.0), hypospadias (ICD10 code: Q54*) and talipes equinovarus (ICD10 codes: Q66.0, Q66.8) alongside an appropriate procedure (OPCS) code were registered by NCARDRS in an automated process.

For babies born in 2019, this list was extended to include choanal atresia (ICD10 code: Q30.0), atresia of oesophagus with tracheo oesophageal fistula (ICD10 code: Q39.1), accessory kidney (ICD10 code: Q63.0) and congenital posterior urethral valves (ICD10 code: Q64.2) when occurring with a relevant and specific procedure code.

This development sits alongside national data extracts for neonatal data systems and cytogenetic and biochemical data extracts from every laboratory in the country, along with local and regional sources of information.