Calzolari E, Garani G, Cocchi G, Magnani C, Rivieri F, Neville A, Astolfi G, Baroncini A, Garavelli L, Gualandi F, Scorrano M, Bosi G
Medical Genetic Section, Department of Experimental and Diagnostic Medicine, University of Ferrara, Italy.
Eur J Epidemiol. 2003;18(8):773-80. doi: 10.1023/a:1025312603880.
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.
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).
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.
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.
收集并评估来自艾米利亚 - 罗马涅地区的关于先天性心脏病发病情况的数据，以便确定一组同质化的患者用于进一步的病因学和遗传学研究。
本研究基于330017例连续出生婴儿中的1549例患有先天性心脏病的死产和活产婴儿（每1000例中有4.7例）。
已确定先天性心脏病的频率和类型，以及性别比、相关的心外异常、染色体异常和亲属复发风险。在研究期间，产前诊断对患病率的影响较低。
该研究为艾米利亚 - 罗马涅地区先天性心脏病的公共卫生监测提供了流行病学数据。强调建立一个关于先天性心脏病的全国性记录系统，该系统在确定来源、诊断标准和分类系统方面进行了设计。
