基因治疗虽然在最近取得了一定进展,但对遗传疾病的治疗仍无法实现,预防还是目前最主要的方法。预防措施包括群体水平避免新变异的发生,避免可能的环境危害,预先检测遗传和复杂疾病及对每个种族的特殊遗传病的预先筛查。进行这些预防措施的最佳时机是在孕前及移植前阶段,因为任何随后发现的病例、或由继续妊娠生出严重受累胎儿,都会引起长期社会、家庭及财务的沉重负担。所以预防策略的范围广泛涉及预防环境危害、为孕妇补充维生素、产前诊断等。其中一个群体预防措施就是通过孕前补充叶酸或含叶酸的多种维生素预防神经管缺陷及其他先天异常,效果很好。另一方面,孕前及移植前遗传学诊断已经成为遗传病主要预防措施的最现实选择。 Although gene therapy has made some progress recently, the treatment of genetic diseases still can not be achieved. Prevention is still the most important method at present. Preventive measures include community-level avoidance of new variants, avoid possible environmental hazards, pre-test of genetic and complex diseases and pre-screening of specific genetic diseases in each race. The best time to carry out these precautions is to cause long-term social, family and financial burdens on both pre-pregnancy and pre-transplant stages as any later-discovered cases or fetuses severely affected by the continuation of pregnancy. Therefore, a wide range of prevention strategies involve the prevention of environmental hazards, vitamin supplementation for pregnant women, and prenatal diagnosis. One group of precautionary measures is to prevent follicular neural tube defects and other congenital abnormalities through folic acid supplementation or folic acid-containing multivitamins before pregnancy, with good results. On the other hand, pre-pregnancy and pre-transplant genetic diagnoses have become the most realistic choice for the primary prevention of genetic diseases.