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

Details

Serval ID
serval:BIB_D4298628504B
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases.
Journal
Birth Defects Research. Part A, Clinical and Molecular Teratology
Author(s)
Garne E., Dolk H., Loane M., Wellesley D., Barisic I., Calzolari E., Densem J.
Working group(s)
EUROCAT Working Group
Contributor(s)
Nelen V., Verellen-Dumoulin C., Randrianaivo H., Khoshnood B., Queisser-Luft A., Rissmann A., O'Mahony M., McDonnell B., Mullaney C., Bianchi F., Gatt M., Bakker M., Melve KK., Latos-Bielenska A., Arriola L., Addor MC., Draper E., Rankin J., Boyd P., Tucker D.
ISSN
1542-0760 (Electronic)
ISSN-L
1542-0752
Publication state
Published
Issued date
2011
Volume
91 Suppl 1
Number
Suppl. 1
Pages
S44-S50
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review
Publication Status: ppublish
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.
Keywords
Abnormalities, Multiple/classification, Abnormalities, Multiple/epidemiology, Algorithms, Female, Humans, Population Surveillance, Pregnancy, Prevalence, Registries/statistics & numerical data
Pubmed
Web of science
Create date
16/02/2012 11:35
Last modification date
20/08/2019 15:54
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