How to prevent autosomal recessive diseases?

summary

For the human body, diseases are usually divided into hereditary diseases and non hereditary diseases. Hereditary diseases are divided into diseases accompanied by sex chromosome inheritance and diseases accompanied by autosomal inheritance. Among them, autosomal diseases are divided into dominant diseases and recessive diseases, Today, I want to discuss with you how to prevent the transmission of chromosomal DNA and autosomal recessive diseases? Let's talk about it

How to prevent autosomal recessive diseases?

Men and women who have been in love should have a comprehensive and systematic health examination before going through the marriage registration procedures. In particular, avoid close marriage. The offspring of consanguineous marriage suffer from mental retardation, congenital malformations and various genetic diseases several times more than those of non consanguineous marriage.

If both men and women or one of them has a genetic disease in their relatives and is worried about whether they will have children with the same genetic disease after marriage, they should be consulted whether they can get married and if the consequences of marriage are very serious; One of the two parties is suffering from a certain disease, but I don't know whether it is genetic disease, whether it is possible to get married, and what is the chance of passing it on to future generations? The doctor will make a clear diagnosis and inform the reasonable treatment.

Prenatal screening is mainly aimed at some diseases without good treatment at present, and its purpose is to prevent the birth of children with defects. Generally in 16 weeks to 20 weeks of pregnancy, 2-3 ml of maternal peripheral blood test, if found high risk possibility (high risk factors more than 1 / 270), you need to further draw amniotic fluid culture, diagnosis.

matters needing attention

Drugs often play an auxiliary role in the treatment of genetic diseases, so as to improve the patient's condition and reduce pain. It is mainly symptomatic treatment, such as taking analgesics to relieve pain. It can also improve the metabolism of the body, such as hepatolenticular degeneration, mainly due to the disorder of copper metabolism in the body, so that the level of copper in the blood increases, leading to fetal malformation. In order to maintain the normal level of copper in the body, we can take drugs to promote the excretion of copper, and limit the consumption of food containing copper, so as to achieve good therapeutic effect. Some diseases, such as congenital hypoimmunoglobulinemia, can be treated by injection of immunoglobulin preparation.