TRENDS AND CAUSES OF CONGENITAL ANOMALIES IN THE PLEVEN REGION, BULGARIA Kovacheva K1*, Simeonova M1, Velkova A2 *Corresponding Author: Katya Kovacheva, MD, Assistant Professor, Department of Medical Genetics, Medical University, 1, Kliment Ohridski str., Pleven 5800, Bulgaria; Tel.: +359-6488-4169; Fax: +359-6482-2667; E-mail: katiakovach@gmail.com page: 37
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INTRODUCTION
Congenital anomalies (CAs) affect approximately 2-3% of all live births every year. Many of these defects are associated with serious health problems. Despite the geographical differences in the reported prevalence of CAs, they are still a leading cause of perinatal mortality and childhood morbidity [1-5]. Over the past 20 years, significant progress has been made in understanding the etiology of birth defects. There are many recognized causes of CAs, although in many cases no clear explanation can be established. The availability of antenatal and neonatal screening promotes the early diagnosis of CAs and provides information about their prevalence by using a regional registration approach. The good epidemiological data on the prevalence rate and pattern of birth defects in a specific region gives an opportunity of identifying some etiological factors and can be useful for their prevention.
The aim of this study was to describe the epidemiology of CAs in the region of Pleven (Bulgaria) over the period 1988-2006, and to answer the following questions: what is the prevalence of CAs? Has there been a secular change in the prevalence of CAs? What is the pattern of CAs? Which are the main causes of CAs and what is the role of genetic causes in their etiology?
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