关键词: 出生缺陷, 研究, 病因, 发生机制, 预防模式

Abstract: Birth defects are a population health problem affecting the quality of birth population in China. Challenges exist with respect to reducing the risk of birth defects and the consequential disease burden in a cost?-effective way. Therefore fundamental and applied researches to prevent birth defects should be further strengthened. These researches are expected to closely focus on the preventability of birth defects， such disease with a high risk， high prevalence，and disabling nature among China population； and development of population?-based theoretic and technical countermeasures， in order to achieve the goals to effectively reduce the disease burden of population with birth defects. For fundamental researches， while continuing to study the genetic fundament and molecular mechanisms of major birth defects， we should employ a systematic biological point of view and the use of macro?-and micro-studies combination， to strengthen the surveillance of birth defects and conduct prospective cohort studies； improve our understanding of the role of genetic factors，environmental factors， and their interaction in the occurrence of birth defects； identify the major environmental risk factors， genetic susceptibility， and epigenetic changes； and develop in?-depth studies about the mechanism of birth defects. For the application of technology in prevention and control of birth defects， we should uphold the principle of prevention and the strategy of focusing on both prevention and treatment， targeting primary， secondary， and tertiary prevention schemes，to conduct comprehensive researches on birth defects prevention， screening， diagnosis， counseling， treatment and other applications of crucial technologies； and develop appropriate， demand?-oriented systems to prevent and control in China setting， including pre-pregnancy risk assessment and counseling techniques， preventive technologies in primary prevention scheme of birth defect， prenatal screening and diagnostic techniques for major birth defects， screening techniques for genetic metabolic diseases among newborns， and early diagnosis and treatment technology for major congenital abnormalities. Meanwhile， we should strengthen the social science research and explore modeling of prevention and treatment of birth defects， in order to translate research results into practice and promote the implementation of national action plan for birth defects prevention.

Key words: Birth defects, Etiology, Mechanisms, Preventive model