绝大部分遗传代谢病无有效的治疗方法 ,因此预防则更为重要。产前诊断是防止遗传代谢病发生的有效措施之一 ,是人类遗传学知识的实际应用 ,是优生的重要措施。遗传代谢病的产前诊断是生化遗传、分子遗传与临床实践相结合的产物 ,具有很强的实际应用价值表 1　可产前诊断的遗传 Most of the genetic metabolic disease is no effective treatment, so prevention is even more important. Prenatal diagnosis is one of the effective measures to prevent the occurrence of genetic metabolic diseases. It is the practical application of knowledge of human genetics and an important measure for eugenics. Prenatal diagnosis of genetic metabolic disease is a combination of biochemical genetic, molecular genetic and clinical practice, has a strong practical value Table 1 can be prenatal diagnosis of genetic