出生缺陷危险因素及诊断研究进展

出生缺陷正在成为婴儿死亡的主要原因,是目前全世界关注的一个重大公共卫生问题.出生缺陷可由遗传因素如染色体畸变、基因突变引起,也可由环境致畸因素或两者共同作用所致.我国出生缺陷发生率呈上升趋势.这些缺陷类型如果通过早期诊断、早期干预,其中至少70%可以避免.出生缺陷干预是一个系统工程,需要全社会参与.产前超声筛查和母体血清生化指标检测是胎儿出生缺陷干预的有效手段,是出生缺陷干预二级预防中的重要组成部分.

Progress in research on risk factors of birth defects and their diagnosis

Birth defects are the main causes of infant mortality and are becoming main public heath problem worldwide.Birth defects are associated with environmental factors,genetic factors(chromosome aberrations and gene mutations) or interactions of the genetic factors and environmental factors.There is an increasing trend in morbidity rates of birth defects in China.Among them,at least 70% of the birth defects can be avoided if early diagnosis is determined and early interventions are performed.Intervention of birth defects is not just a process of medical practice,but also needs participation of the whole society.Prenatal ultrasonographic screening and maternal serum biochemical markers detection are effective interventions,and they are the key components of the secondary prevention in birth defects control.