New data from the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) suggest the rate of congenital anomalies in England is approximately one in 49 births.
The NCARDRS currently collects data about 940 different congenital anomalies and rare diseases from 7 regions – the Northern region, Yorkshire and Humber, East Midlands and South Yorkshire, West Midlands, Thames Valley, South West, and Wessex.
In 2016, there were a total of 6752 cases with one or more congenital anomalies notified to the 7 NCARDRS reporting regions covering 329,301 total births (live births and stillbirths). This gives an overall birth prevalence for these regions of 205.0 per 10,000 total births.
In 2016, the timing of first diagnosis was known for 6408 (94.9%) cases and of these, 64.9% were diagnosed antenatally. Where a congenital anomaly was detected antenatally, 57.6% of cases resulted in a live birth, and where a congenital anomaly was diagnosed postnatally, 95.0% were diagnosed following a live birth.
Of the 6752 congenital anomaly cases reported to NCARDRS, 336 resulted in an infant death, giving an infant mortality rate of 10.2 per 10,000 live births. Congenital heart anomalies had the highest mortality rate, accounted for 47% of infant deaths, followed by chromosomal anomalies (25%) and digestive system anomalies (18%).
Prevalence of genetic congenital anomalies increased with maternal age; the prevalence of genetic anomalies was 7-times higher in women aged 40+ compared with women aged less than 20.
Complete national data, including the 3 remaining areas−East of England, London and the South East, and the North West−will be reported from 2019.