ORIGINAL ARTICLES

Ascertainment and accuracy of Down syndrome cases reported in congenital anomaly registers in England and Wales

G M Savva¹, J K Morris²

¹ Department of Public Health and Primary Care, University of Cambridge, Institute of Public Health, Cambridge, UK
² Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St Bartholomew’s and the London Queen Mary’s School of Medicine and Dentistry, London, UK

Dr J K Morris, Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St Bartholomew’s and the London Queen Mary’s School of Medicine and Dentistry, Charterhouse Square, London, EC1M 6BQ, UK; j.k.morris{at}qmul.ac.uk

Objective: Congenital anomaly registers allow the rates of anomalies to be monitored and are essential for understanding their epidemiology. We estimate the ascertainment and accuracy of records of Down syndrome (DS) on national and regional registers in England and Wales.

Methods: Probabilistic record linkage was used to match records of DS from three sources: the National Down Syndrome Cytogenetic Register (NDSCR), seven regional members of the British Isles Network of Congenital Anomaly Registers (BINOCAR) and the National Congenital Anomaly System (NCAS). Capture-recapture methods were then used to estimate the ascertainment of each register.

Results: The NDSCR and BINOCAR registers ascertain around 95% of both pre-natally and post-natally diagnosed cases of DS. NCAS collects data only on births and ascertains 55% of cases of DS births, which is currently around 25% of all DS diagnoses. NCAS ascertainment varies according to whether a BINOCAR register covering the same area contributes information to NCAS, varying from 80% in areas where regional registers contribute to 50% where regional registers do not.

Conclusions: Active case finding through regional registers is essential for monitoring congenital anomalies. The ascertainment of the NDSCR and BINOCAR is sufficient to provide reliable epidemiology and surveillance of congenital anomalies, whereas that of NCAS is not.

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• Morris, J. K, Alberman, E. (2009). Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register. BMJ 339: b3794-b3794 [Abstract] [Full Text]