出生缺陷(Birth Defect,BD)为近20年来国际上开拓的一门新学科,是指人类正常范围外,任何解剖学和功能的变异,包括各种遗传病和先天畸形,其来自于环境和/或遗传因素,病因至今难以十分明了。鉴于我国对BD研究还甚少,基础数据贫乏,我们在普查新生儿先天愚型基础上进行了先天畸形普查,以查明上海市区先天畸形的主要种类、患病率、动向及孕妇育龄、环境、遗传等因素的影响及其 Birth Defect (BD) is a new discipline open to the world in the past 20 years. It refers to any anatomical and functional variation outside the normal range of human beings, including various genetic diseases and congenital malformations, which come from the environment and / Or genetic factors, the cause is difficult to understand so far. In view of the fact that there are few studies on BD and few basic data in our country, we conducted a survey of congenital malformations on the basis of Codification of Down’s Beloved to ascertain the main types of congenital anomalies, their prevalence, trends and their reproductive ages in Shanghai. Environmental and genetic factors and their impact