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Published on: July 18, 2014
Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy)
E Calzolari1, G Garani, G Cocchi
1Medical Genetic Section, Department of Experimental and Diagnostic Medicine, University of Ferrara, Italy. cls@unife.it
Insights
This study analyzed congenital heart defects (CHDs) in the Emilia-Romagna Region, identifying patient groups for genetic research. Epidemiological data were collected to aid public health surveillance of CHDs.
Area of Science:
- Pediatric Cardiology
- Medical Genetics
- Public Health Surveillance
Background:
- Congenital heart defects (CHDs) represent a significant global health concern.
- Understanding the epidemiology of CHDs is crucial for targeted interventions and research.
Purpose of the Study:
- To collect and assess data on CHD occurrence in the Emilia-Romagna Region.
- To establish a homogeneous patient cohort for etiological and genetic investigations.
- To provide epidemiological insights for public health surveillance.
Main Methods:
- Analysis of 1549 stillborn and live-born infants with CHDs from 330,017 consecutive births.
- Data collection focused on CHD types, sex ratio, extracardiac anomalies, and chromosomal abnormalities.
Main Results:
- The study determined the frequency and types of CHDs within the region.
- Associated extracardiac and chromosomal anomalies were identified.
- The impact of prenatal diagnosis on CHD prevalence was minimal during the study period.
Conclusions:
- The research generated essential epidemiological data for CHD public health surveillance in Emilia-Romagna.
- A standardized nationwide system for CHD recording, encompassing ascertainment, diagnostic criteria, and classification, is recommended.
Objectives:
Collection and assessment of data from the Emilia-Romagna Region on the occurrence of congenital heart defects in order to identify an homogeneous group of patients for further aetiologic and genetic studies.
Materials And Methods:
The present study is based on 1549 stillborn and live born babies affected by congenital heart defect out of 330,017 consecutive births (4.7 per 1000).
Results:
The frequency and type of congenital heart defects have been identified together with the sex ratio, associated extracardiac anomalies, chromosomal anomalies and the risk of precurrence in relatives. The impact of prenatal diagnosis on prevalence was low during the study period.
Conclusions:
The study has provided epidemiological data for public health surveillance of congenital heart defects in the Emilia-Romagna region. The creation of a system for the nationwide recording of congenital heart defects designed with regard to the sources of ascertainment, the diagnostic criteria, and the system of classification is emphasised.
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