The boy was born with recessive genetic disease. He was normal. He wouldn't leave when he was five years old

Birth defects refer to defects or abnormalities in structure, function, metabolism, spirit or behavior during the development of embryo or fetus At present, more than 7000 kinds of birth defects have been identified September 12 is the "birth defect prevention day" The reporter learned from Nanjing Maternal and child health hospital yesterday that the "three lines of defense" of birth defects have avoided tragedy for many families Case: genetic diagnosis is normal to avoid another tragedy Does it mean that a child is a "healthy child"? Anhui tiger was born with a tiger head and a tiger brain Before the age of 5, it was no different from normal children However, at the age of 5, the tiger often fell down when walking and was unable to climb the stairs When squatting and standing, it had to support its knees with both hands to stand, and it developed into a typical "duck step" with a faltering gait, unable to jump and run, abnormal walking posture, excessive protrusion of lumbar vertebrae, and swinging pelvis to both sides 。 DMD was diagnosed as X-linked recessive hereditary disease in many hospitals The pathogenic gene was dystrophin, located on chromosome Xp21 Now Xiaohu is 15 years old, which brings a huge burden to the family At the same time, due to the pressure of the old family to have a healthy grandson, Xiaohu's mother is pregnant again this year, but Xiaohu's father feels particularly insecure Can this child? Jiang Tao, director of the reproductive genetics Department of Nanjing Maternal and child health hospital, made a genetic diagnosis for the patient and his parents, and later found that the mother was the carrier In order to make the diagnosis clear, the experts carried out the prenatal diagnosis of the second child, and found that the fetus was also a positive patient Through further prenatal examination and consultation, the parents of Xiao Hu finally decided to terminate the pregnancy, avoiding another tragedy Question: the first baby is defective Can you have a second baby? Director Jiang Tao told reporters that there are three common causes of birth defects First, the mother is deficient in micronutrients before and during pregnancy, such as folic acid, iodine deficiency, etc Second, the impact of environmental teratogens, such as pregnant women infected with rubella, cytomegalovirus and Treponema pallidum during pregnancy; contact with mercury, lead, benzene, pesticides, X-rays and other toxic and harmful substances; use of teratogens Third, genetic factors, mainly family history Most parents who have a birth defect feel guilty about what they did wrong, or even dare not have a second child As a matter of fact, up to now, the specific reason why most children have birth defects is not known However, if you are planning to have a second child, you must carry out relevant gene screening before and during pregnancy, so that the possibility of birth defects of the second child can be reduced ■ extending the "three lines of defense" from pre pregnancy to birth can prevent birth defects China is one of the countries with high incidence of birth defects in the world The annual number of birth defects accounts for about 20% of the world The total incidence of birth defects in China is about 11 ‰ - 14 ‰, and it is increasing year by year Every year, about 200000-300000 children with congenital malformations are born with naked eyes In addition to the defects that appear only months and years after birth, the total number of children with congenital disabilities is as high as 800000-1.2 million On average, three children with disabilities come to the world every hour Jiang Tao, director of the reproductive genetics Department of Nanjing Maternal and child health care hospital, told reporters that prenatal diagnosis is a behavior that is responsible for the family and the society Through three lines of defense, most birth defects can be prevented or symptoms can be alleviated "Primary prevention" means pre marital medical examination and pre pregnancy health care From the beginning of 2013 to now, the premarital health care department of Nanjing Maternal and child health hospital has carried out 341 premarital examinations, 76 of which have been found to have problems, including hepatitis B, arrhythmia, hyperthyroidism, etc., and even three women are syphilis patients "Secondary prevention" is carried out during pregnancy Prenatal screening and prenatal diagnosis are required In the first half of 2013, the reproductive genetics Department of Nanjing Maternal and child health hospital carried out gene diagnosis of various diseases in 85 cases, 52 abnormalities were found, 418 cases of sheep were diagnosed before aquaculture, and about 30 cases of karyotype abnormalities were found "Three-level prevention" is to carry out neonatal diseases, hearing screening and systematic health care for children after birth, so as to diagnose the defective children as early as possible and select the best opportunity for operation and correction, so as to reduce the burden of the defective children on the family In the first half of the year, 29 cases of congenital hypothyroidism, 6 cases of hyperphenylalaninemia and 6 cases of congenital adrenal hyperplasia were screened out by the municipal Screening Center for maternal, child and newborn diseases.