先天畸形约占新生儿的0．7％[1]，占围产死因的第一位，且常有残疾和／或智力低下。因此正确诊断、有效防治、减少发病很重要。在近几年的临床工作中，我们对先天畸形的识别诊断进行了有益的探讨，现将确诊的95例报告如下。临床资料1990年8月～1997年6月间遗传咨询门诊收治共计 Congenital malformations account for about 0.7% of newborns [1], accounting for the first cause of death and often have disabilities and / or mental retardation. Therefore, the correct diagnosis, effective prevention and treatment to reduce the incidence is very important. In recent years, clinical work, we have a good understanding of the diagnosis of congenital malformations, now diagnosed 95 cases are reported as follows. Clinical data August 1990 ~ June 1997 genetic counseling clinic total