Executive summary

This is the fifth National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) report on congenital anomaly data. Public Health England launched NCARDRS on 1 April 2015. Prior to this, registries existed in only some regions of England. In response to the UK Rare Disease Strategy and the Chief Medical Officer’s recommendation to ensure national coverage, 3 new regions covering the East of England, London and the South East, and the North West were established. Data collection in the newly established regions started from 1 April 2017.

In 2018, NCARDRS achieved its goal of national data collection. This report, covering births between January and December 2019, represents the second year of national data coverage for England.

NCARDRS’ first report, using data from 2015, reported on 21% of births in England. In both the 2016 and 2017 reports, data from 7 NCARDRS reporting regions, representing 49% coverage of births, were presented. We are pleased to report that, as in the 2018 report, this fifth report is based on data covering 100% of births in England.

NCARDRS currently collects data on over 1,400 different congenital anomalies and rare diseases across England. In 2019, there were a total of 13,306 babies (Data downloaded August 2021) with one or more congenital anomalies notified to NCARDRS, covering 614,952 total births (live births and stillbirths). This gives an overall birth prevalence for these regions of 216.4 per 10,000 total births – one baby diagnosed with a congenital anomaly for every 46 births (live births and stillbirths).

Some congenital anomalies are detectable during pregnancy and others are not. In 2019, the timing of first diagnosis was known for 12,674 (95.0%) babies and of these, 68.0% were diagnosed antenatally. Where a congenital anomaly was diagnosed antenatally, 59.8% of these resulted in a live birth. Where a baby was diagnosed with a congenital anomaly postnatally, 98.2% of these were diagnosed following a live birth.

Of the 13,306 babies with a confirmed or probable congenital anomaly reported to NCARDRS, 633 died in their first year, giving an infant mortality rate of 10.3 per 10,000 live births. Of all the deaths associated with a congenital anomaly, congenital heart anomalies were most frequently identified in 51.8% of reported infant deaths, followed by chromosomal anomalies 22.7% and digestive system 18.3% anomalies.

Data recorded in 2019 shows that the prevalence of genetic congenital anomalies increased with maternal age; the prevalence of these anomalies was around 9 times higher in older mothers (women aged 40 years and over) compared with younger mothers (women aged less than 20 years).

Data on Down’s syndrome, Edwards’ syndrome and Patau’s syndrome (full trisomies) are presented for England for 2019. The prevalence per 10,000 total births for Down’s syndrome was 25.4 (95% CI:24.1-26.6), or one in 394 total births, 6.9 (95% CI:6.2-7.6), or one in 1,449 for Edwards’ syndrome and 2.5 (95% CI:2.1-2.9), or one in 4,000 total births for Patau’s syndrome respectively