Hereditary disease

 It is well known that metabolic diseases (e.g. 639 phenylketonuria), hematologic diseases (e.g. 558 hemophilia), and muscular diseases (e.g. 554 muscular dystrophy) can be inherited.


The couple does not have these diseases, but when one parent's siblings suffer from similar diseases, they will worry about whether their children will get these diseases and develop pessimistic mood, and decide not to have children in the first place, which is not right. Genetic counseling should be used before deciding whether to have children. If the diagnosis of the disease is not clear, it cannot be considered. Detailed information of the patient was collected and the family tree was drawn to investigate the presence or absence of the disease members. Family history should be traced as far back as possible to the second or third generation and be consulted with medical records and genealogy.


Women are carriers of disease-causing genes (which appear to be healthy but have disease-causing genes on their chromosomes). And disease is not uncommon in the next generation. Even if the mother is the disease-causing gene carrier, the daughter is not necessarily the disease-causing gene carrier, hemophilia, Duchenne muscular dystrophy, phenylketonuria, galactosemia and other diseases have been able to detect the disease-causing gene carrier. If you're not a carrier, you don't have to worry about genetic diseases.


In addition, couples who are normal and have a deformed child can still have a deformed child. The incidence of such malformations is well established, with 6 percent for spina bifida, 4 percent for cleft lip, 3 percent for cleft palate and 14 percent for dislocation of the hip. Amniotic fluid diagnosis can also be used to examine fetal cells. But this is not possible before 16 weeks of pregnancy, and abortion at five months is dangerous, so can it be diagnosed early? The chorionic villi of the placental foetus can be detected at 9 ~ 11 weeks of gestation. But both methods can damage the placenta and pose a risk of miscarriage, so a diagnostic method has been developed to examine fetal red blood cells passing through the placenta and into the mother.


If the gene that causes the disease is present at a specific chromosomal locus, fetal blood or liver cells can be collected and diagnosed by DNA analysis using molecular biology techniques. Through the fetal diagnosis can be clear of diseases such as congenital malformation, spina bifida, phenylketonuria, hemophilia, fetal polycythemia and infectious diseases (rubella, herpes simplex, cytomegalovirus infection).


The decision on whether to give birth to a child with a disability should be made by the parents who bear responsibility for the child's upbringing, the future of their siblings and the survival of the family. No third party without responsibility or ability should interfere.


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