my country is one of the countries with a high incidence of birth defects. About 900,000 birth defects are born every year. Phenylketonuria, spinal muscular atrophy, and hemophilia A are behind the names of rare disease patients. pain. February 28 is International Rare Disease Day. Su Zhaojuan, director of the Prenatal Diagnosis Center of the Fifth Hospital of CUHK, reminded the public to avoid consanguineous marriages, try to avoid childbirth at an advanced age, do a good job in prenatal diagnosis, and conduct genetic counseling to prevent rare diseases to a certain extent.
It is reported that there are currently more than 7,000 rare diseases recognized internationally, and there are at least 20 million people with rare diseases in my country. Among them, 80% are caused by genetic diseases, 50% in childhood, and 30% in the 15th century. Only 5% of those who die before age have a cure. These include phenylketonuria, spinal muscular atrophy, hemophilia A, and more. Reports show that 80% of diagnosed rare diseases are from normal parents and families.
In the interview, Su Zhaojuan told reporters that, in fact, most rare birth defects are recessive genetic diseases, which are characterized by the fact that both husband and wife are carriers of pathogenic mutation genes, and they do not develop the disease themselves, but the next One generation has a 1/4 chance of becoming a genetic disease patient.
X-linked recessive inheritance is characterized by normal phenotypes of both husband and wife, females are carriers of the disease-causing gene, and half of the next generation of males will be patients with genetic diseases. It is precisely because the phenotype of both husband and wife is normal that the genetic risk of recessive disease-causing genes is ignored.
Although many rare diseases cannot be completely cured at present, this does not mean that “there is nothing to do”, scientific diagnosis and treatment methods can effectively control and alleviate disease symptoms and development process
Single Genetic disease carrier screening is to use genetic testing to screen the carrier status of recessive genetic disease genes in healthy people, help identify couples who carry the same recessive genetic disease gene, and then evaluate a family born with recessive genetic disease. risk, provide guidance for their reproductive planning, and be used for screening of high-risk groups for prenatal diagnosis.
In recent years, the routine screening of thalassemia in prenatal examinations in Guangdong and Guangxi is one of the genetic disease carriers screening.
Su Zhaojuan reminded that avoiding consanguineous marriage, trying to avoid childbirth at an advanced age, doing a good job in prenatal diagnosis, and conducting genetic counseling can prevent rare diseases to a certain extent. Detect a variety of diseases, with higher screening efficiency and lower cost: including: 1. Couples before marriage, before pregnancy or early pregnancy (before 14 weeks of pregnancy); 2. No family history of genetic diseases, but hope to identify the next generation of genetic diseases At-risk couples; 3. Couples who hope to have healthy offspring through assisted reproductive technology; 4. People in high-risk areas for specific genetic diseases; 5. Couples with close blood relationship.
