1, the status of treatment of genetic diseases The vast majority of genetic diseases lack practical and effective treatment measures, and the treatment is basically symptomatic and cannot be cured. A few genetic metabolic diseases can be controlled through diet control, such as phenylketonuria. However, genetic disorders such as Down’s syndrome, Patau syndrome, progressive muscular dystrophy, spinal muscular atrophy, polycystic kidney and many other genetic disorders such as hereditary spinal cerebellar ataxia lack effective therapeutic measures, and most gene therapy is still in the laboratory research stage and cannot be widely used in clinical practice. Therefore, it is necessary to make accurate diagnosis (cytogenetics, molecular genetics, biochemical testing) for pre-documented individuals, so as to provide reliable genetic information for prenatal diagnosis, or even preimplantation diagnosis, to guide risky families to have healthy offspring, and to effectively prevent the birth of affected children. 2.The concept, significance and requirements of prenatal diagnosis Prenatal diagnosis is the focus of modern genetic disease diagnosis, which is to diagnose the genetic traits of the fetus before birth through physical, biochemical, cytogenetic and molecular genetic techniques and methods, so as to provide sufficient and reliable information for families at risk of genetic diseases to make appropriate choices during pregnancy. This is demonstrated by providing positive evidence to reassure families when the test results are normal; providing risk information to at-risk couples before planning a pregnancy; preparing the professionals involved for timely management of the fetus at and after birth when the diagnosis is abnormal; providing early information about the genetic disorder to individual pregnant women who wish to keep the sick fetus, so that they can be mentally prepared for inter-pregnancy or post-delivery Health care; provide information to couples who intend to have an abortion to prepare their minds. Prenatal diagnosis is related to the health of the fetus and the mental and economic stress of the family, and must be taken seriously and must be carried out according to certain criteria, including: the disease should have a clear definition and diagnostic criteria; the disease has serious defects that require termination of pregnancy; the disease is untreatable or has poor efficacy; the disease has a high risk of being passed on to the next generation; termination of pregnancy is acceptable to the pregnant woman; the method of prenatal diagnosis is correct, specific, and sensitive; and there is sufficient professional expertise. High sensitivity; adequate professional workforce. It also requires the cooperation of several professional disciplines, including obstetrics, pediatrics, neurology, clinical genetics and so on. Genetic counseling is a process of communication about the risk of genetic diseases in the family, in which professionals trained in genetics are available to help counselors and their families: to understand the basic information about genetic diseases, including diagnosis, prognosis and management measures; to clarify the mode of inheritance of the disease and the risk of recurrence of specific relatives; to understand the diagnosis and prevention methods of the disease and its possible options, such as prenatal diagnosis, diagnosis of the disease, and the risk of recurrence. options, such as prenatal diagnosis, changes in reproductive methods, etc., and the selection of the most appropriate measures based on the risk of recurrence and the counselor’s reproductive goals; and the development of measures for the proper arrangement and care of family members who have developed the disease, including family and possible social benefits. Genetic counseling is a communicative and, in some cases, psychotherapeutic process aimed at providing the counselor with a clear understanding of the nature of the disease in question and its occurrence in the family, understanding the possible options for disease control and, finally, making his or her own decisions. The genetic counselor, should have a clear understanding of the common genetic disorders and those being counseled, including the nature and diagnosis of the disease, the type of inheritance, the risk of recurrence, the likelihood of carrier detection, the possible methods of control and effectiveness, the various options for reproductive methods and the possible impact of these options on the health of the individual, the family economy and society. Be able to be familiar with social issues, understand the psychology of the counselor and be able to respond appropriately; in the case of genetic disorders that cannot be resolved, the patient should be advised to consult the relevant department or be referred to a higher genetics research department.