Paper 5: Surveillance of multiple congenital anomalies: Implementation of a computer algorithm in European registers for classification of cases
Garne, Ester, Dolk, Helen, Loane, Maria, Wellesley, Diana, Barisic, Ingeborg, Calzolari, Elisa and Densem, James (2011) Paper 5: Surveillance of multiple congenital anomalies: Implementation of a computer algorithm in European registers for classification of cases. Birth Defects Research Part A: Clinical and Molecular Teratology, 91, (S1), S44-S50. (doi:10.1002/bdra.20777) (PMID:21384529)
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Description/Abstract
Background: surveillance of multiple congenital anomalies is considered to be more sensitive for the detection of new teratogens than surveillance of all or isolated congenital anomalies. Current literature proposes the manual review of all cases for classification into isolated or multiple congenital anomalies.
Methods: multiple anomalies were defined as two or more major congenital anomalies, excluding sequences and syndromes. A computer algorithm for classification of major congenital anomaly cases in the EUROCAT database according to International Classification of Diseases (ICD)v10 codes was programmed, further developed, and implemented for 1 year's data (2004) from 25 registries. The group of cases classified with potential multiple congenital anomalies were manually reviewed by three geneticists to reach a final agreement of classification as "multiple congenital anomaly" cases.
Results: a total of 17,733 cases with major congenital anomalies were reported giving an overall prevalence of major congenital anomalies at 2.17%. The computer algorithm classified 10.5% of all cases as "potentially multiple congenital anomalies". After manual review of these cases, 7% were agreed to have true multiple congenital anomalies. Furthermore, the algorithm classified 15% of all cases as having chromosomal anomalies, 2% as monogenic syndromes, and 76% as isolated congenital anomalies. The proportion of multiple anomalies varies by congenital anomaly subgroup with up to 35% of cases with bilateral renal agenesis.
Conclusions: the implementation of the EUROCAT computer algorithm is a feasible, efficient, and transparent way to improve classification of congenital anomalies for surveillance and research
| Item Type: | Article |
|---|---|
| ISSN: | 1542-0752 (print) 1542-0760 (electronic) |
| Subjects: | Q Science > QH Natural history > QH426 Genetics |
| Divisions: | University Structure - Pre August 2011 > School of Medicine > Human Genetics |
| ePrint ID: | 177999 |
| URI: | http://eprints.soton.ac.uk/id/eprint/177999 |
| Deposited On: | 22 Mar 2011 15:26 |
| Last Modified: | 01 Jun 2011 08:54 |
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