随着现代医学的发展,诊疗技术的提高,新生儿死亡率逐渐降低,而死亡原因中占最大比例的就是先天缺陷。临床上每一百个新生儿约有4～6个有先天缺陷,这些缺陷有一些全然是由遗传因素所引起,包括单一基因异常及染色体异常,另一些则是受到遗传及环境的多因子异常。有部分先天性代谢 With the development of modern medicine and the improvement of diagnosis and treatment techniques, the neonatal mortality rate has been gradually reduced, while the largest proportion of the causes of death is a birth defect. Clinically, there are about 4 to 6 birth defects per 100 newborns. Some of these defects are caused entirely by genetic factors, including single gene abnormalities and chromosomal abnormalities, while others are subject to genetic and environmental multifactorial abnormalities . Some of the congenital metabolism