Aims: Congenital anomalies (CA) cause around a fifth of infant deaths and are a major contributor to subsequent illness and disability. Many require surgery in the newborn period. Regional CA registers have existed for over 30 years but an effective national register has been lacking. We report the development of a national CA register.
Methods: The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) was launched by Public Health England in April 2015. Initially incorporating existing regional CA registers, registers for regions not previously covered were created. New data sources for case ascertainment were identified and a central database developed. This analysis is based on data from 2015 aggregated from four of the pre-existing NCARDRS regions (21% of births in England).
Results: There were 2,905 cases with at least one CA among 141,474 births. Of these 1,998 (69%) were in livebirths, representing 1 in 70 livebirths. Two-thirds of anomalies were diagnosed prenatally. Rates of non-genetic anomalies were significantly higher in mothers <20 years (201 per 10,000 births [95% CI 164-245]) compared to the mean for all ages (147 per 10,000 births [95% CI 141-154]), driven by comparatively higher rates of nervous system, abdominal wall, limb and cardiac anomalies in this age category. Of the thoracic and GI anomalies, gastroschisis was the most prevalent in live births, followed by diaphragmatic hernia and oesophageal atresia (Table). Antenatal detection rates for the auditable thoracic and gastro-intestinal conditions ranged from 63% (51.4-73.7) for diaphragmatic hernia to 99% (93.8-99.8) for gastroschisis.
Conclusion: The development of an effective national CA registration system has proved feasible, and systems developed to permit nationwide reporting from the 2017 birth cohort onwards. Accurate national surveillance and monitoring of congenital anomalies and rare diseases will assist clinicians, researchers & policy makers seeking to address child morbidity and mortality.