遗传病和其它出生缺陷的产前诊断,自从应用到医疗实践中以来,经过十五年的时间,已经发展成为医学遗传学家研究工作中最有力的工具之一。最初,产前诊断只能检查出染色体疾病和有限的几种酶缺陷疾病。而现在,其诊断范围,已扩展到大约100种先天性代谢病,或生化异常已明确的疾病以 Prenatal diagnosis of genetic diseases and other birth defects has, over the past fifteen years, become one of the most powerful tools in medical genetics research since it was applied to medical practice. Initially, prenatal diagnosis can only detect chromosomal diseases and a limited number of enzyme-deficient diseases. Now, its diagnostic scope has been extended to about 100 kinds of congenital metabolic diseases, or biochemical abnormalities have been clearly defined diseases