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Paper 5: Surveillance of multiple congenital anomalies: Implementation of a computer algorithm in European registers for classification of cases

Paper 5: Surveillance of multiple congenital anomalies: Implementation of a computer algorithm in European registers for classification of cases
Paper 5: Surveillance of multiple congenital anomalies: Implementation of a computer algorithm in European registers for classification of cases
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
1542-0752
S44-S50
Garne, Ester
1e675ea0-ae2a-42a4-a851-894b4d1abd58
Dolk, Helen
cba8a92e-f592-4184-b729-bf852da54e6e
Loane, Maria
75179117-e1e8-4113-81d1-20458c7db2f2
Wellesley, Diana
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Barisic, Ingeborg
eecca9c6-6878-4b68-9b6c-ff0bbb3057ff
Calzolari, Elisa
9daaa9c9-5719-464c-bc6e-8d24c44020ee
Densem, James
560de08d-b487-4124-a3b1-d09451d64d45
EUROCAT Working Group
Garne, Ester
1e675ea0-ae2a-42a4-a851-894b4d1abd58
Dolk, Helen
cba8a92e-f592-4184-b729-bf852da54e6e
Loane, Maria
75179117-e1e8-4113-81d1-20458c7db2f2
Wellesley, Diana
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Barisic, Ingeborg
eecca9c6-6878-4b68-9b6c-ff0bbb3057ff
Calzolari, Elisa
9daaa9c9-5719-464c-bc6e-8d24c44020ee
Densem, James
560de08d-b487-4124-a3b1-d09451d64d45

Garne, Ester, Dolk, Helen, Loane, Maria, Wellesley, Diana, Barisic, Ingeborg, Calzolari, Elisa and Densem, James , EUROCAT Working Group (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)

Record type: Article

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

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Published date: 7 March 2011

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Local EPrints ID: 177999
URI: http://eprints.soton.ac.uk/id/eprint/177999
ISSN: 1542-0752
PURE UUID: 87da6c18-6856-4dec-9376-08f3ce68b173

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Date deposited: 22 Mar 2011 15:26
Last modified: 14 Mar 2024 02:44

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Contributors

Author: Ester Garne
Author: Helen Dolk
Author: Maria Loane
Author: Diana Wellesley
Author: Ingeborg Barisic
Author: Elisa Calzolari
Author: James Densem
Corporate Author: EUROCAT Working Group

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