What is the prevention of hereditary diseases?

Modern medicine has now reached the highest level. Certain successes are fixed in the fight against hereditary diseases. However, no matter how important it is to treat these ailments, prevention is the priority. The given process is made in two directions: the prevention of occurrence of new diseases and preventive maintenance of a birth of children in those families where there are hereditary problems. Many people identify them with congenital diseases. However, there is a fundamental difference between them. Congenital diseases are caused by several factors. In addition to inherited problems, external factors, such as the effects of drugs, radiation, etc., can act as activators of the disease. In any case, the prevention of hereditary diseases must be carried out in order to avoid serious consequences in the future.

The meaning of genetics

It is worth noting that before you engage in prevention, you need to find out if there are problems in a particular family. In this issue, genetic factors play an important role. For example, several members of the community cell have established the presence of a hereditary disease. Then other members of the family must necessarily undergo a special examination. It will help to identify people who have a predisposition to this ailment. Timely prevention and treatment of hereditary diseases will save you a lot of problems in the future.

Currently, scientists are working on the study of genes predispositions to chronic diseases. If everything goes well, it will be possible to form certain groups of patients and begin to implement preventive measures.

Genetic passport

As it was already mentioned, modern medicine develops every day. This also applies to the prevention of hereditary diseases. Experts are now seriously thinking about the introduction of a genetic passport. It is information that reflects the status of a group of genes and marker loci in a particular individual. It should be noted that this project has already been preliminarily approved, and countries such as the United States and Finland are investing in the development of the idea.

The introduction of a genetic passport is a serious step in the development of diagnosis and prevention of hereditary diseases. After all, using it, you can easily identify a predisposition to pathology and begin to fight it.

Detecting a propensity for illness

First of all, it should be said that every family should monitor health and know about their hereditary ailments. If you correctly compile and analyze the genealogy, you can find the predisposition of the family to a particular pathology. Then, with the help of various methods, specialists reveal the tendency of individual members of the community cell to the disease.

Nowadays genes are predisposed to allergies, myocardial infarction, diabetes, asthma, oncology, gynecological diseases, etc. Sometimes a doctor assesses the patient's immunity level and determines the presence of altered genes. It is worth noting that hereditary and congenital diseases and their prevention are rather complicated. Therefore, first you need to conduct the most comprehensive study in order to have an idea of the problem. Medical examinations should be carried out only with the consent of the individual, while the specialist must preserve the confidentiality of information.

After receiving the result, the specialist, also by agreement, can send it to your doctor. And then the doctor will begin work on the prevention of hereditary diseases.

Types of hereditary pathologies

Like any other ailment, this one has its own classification. Hereditary problems are divided into three main types:

1. Genetic diseases. This ailment results from DNA damage at the gene level.
2. Chromosomal diseases. This pathology appears due to an incorrect number of chromosomes. The most common hereditary disease of this species is Down syndrome.
3. Diseases with hereditary predisposition. These include diabetes mellitus, hypertension, schizophrenia, and so on.

As for the methods of prophylaxis of hereditary diseases, it is possible to distinguish some of the most effective ones, which will be discussed below.

Detection of the disease before the birth of the child

At the moment, such studies are very effective. This is due to the introduction of new methods of prenatal diagnosis. Thanks to these methods it became possible to recommend not to give birth to children in families, and even to interrupt pregnancy. Without extreme measures, this can not be done, because when a hereditary pathology is found, measures must be taken. Otherwise, there may be unsolvable situations that will lead to serious consequences.

With the help of prenatal diagnosis, it is possible to predict the outcome of pregnancy with a certain pathology. In carrying out various studies, it is possible to discover with great probability problems in the development of the fetus, as well as about half a thousand hereditary ailments.

The reason for the beginning of the diagnosis can serve as:

• The identification of a specific disease in the family;
• Certain diseases of both parents or only mothers;
• The age of the woman (over 35 years).

Methods of prenatal diagnosis

Measures to prevent hereditary diseases include the methods of prenatal detection of ailments. Among them are:

1. Amniocentesis. Its essence lies in the extraction of amniotic fluid. This process is carried out on a 20-week gestation period with a puncture of the abdominal wall.
2. Chorion biopsy. This method consists in obtaining the tissue of the chorion. It should be used earlier, namely at 8-9 weeks of pregnancy. The result is achieved by means of a puncture of the abdominal wall or through access to the cervix.
3. Placentocentesis. In this case, you need to get placenta villi. This method is used at any time of pregnancy. As in the previous cases, you can get the villi by using a puncture of the abdominal wall.
4. Cordocentesis. Specialists distinguish this method as the most effective. Its essence is to obtain blood by puncturing the umbilical cord. Apply the method on the 24-25 week of pregnancy.

Examination of pregnant women

Diagnosis, prevention and treatment of hereditary diseases in unborn children with vices is carried out with the help of screening of pregnant women. This process is carried out in two stages: the detection of the level of the blood protein and ultrasound of the fetus.

The first procedure is performed by obstetricians or gynecologists who have the appropriate qualifications and possess the necessary equipment. The level of protein is checked twice: at 16 and 23 weeks of pregnancy.

The second stage is relevant only if there were any suspicions about the presence of problems in the unborn baby. Ultrasound is best performed in special institutions. After this, a genetic consultation is carried out, based on which the method of prenatal diagnosis is selected. After all the necessary tests have been handed over, the further fate of pregnancy will be decided by specialists.

Examination of newborn children

What is the prevention of hereditary diseases? This question is asked by many people, since they think that it is impossible to prevent, however they are mistaken. With timely diagnosis and treatment, hereditary ailments will not give complications that can lead to death.

Screening is a fairly popular and effective method of detecting a disease. There are a lot of such programs developed. They help to make an examination of the preclinical picture of some diseases. They have a place to be if the disease is severe. Then, in the case of early and timely diagnosis, the disease can be cured.

In Russia now there is such practice. In some clinics, programs have been introduced to diagnose and treat hypothyroidism and phenylketonuria. As a test, blood is taken from children on the 5th-6th day of life. Those who have violations are at a certain risk group. Such children are prescribed treatment, which significantly reduces the chance of complications.

Genetic counseling

Genetic counseling is specialized medical care aimed at preventing the birth of sick children. Human hereditary diseases and their prevention occupies a special place among other ailments. After all, we are talking about children who have not even been born yet.

Consultation can be conducted only by a highly qualified specialist in the field of genetics. This method is excellent for preventing the birth of children with hereditary diseases, which are difficult to treat. The purpose of counseling is to determine the risk of the appearance of a child with a hereditary disease. Also, the doctor should explain the meaning of this procedure to the parents and help in making the decision.

Grounds for counseling

Prevention of hereditary diseases is developed at a high level due to new methods and methods. Genetic counseling is carried out in the following cases:

• A child with a congenital pathology of development is born;
• Suspicion or establishment of an inherited disease in the family;
• Marriages between relatives;
• If there have been cases of abortions or stillbirths;
• The age of the pregnant woman (over 35 years);
• Pregnancy is difficult and with complications.

The doctor takes on a huge responsibility when he gives advice, on which depends the warning of the birth of an inferior child, doomed to physical and mental suffering. Therefore, it is necessary to be based not on impressions, but on accurate calculations of the probability of the birth of a sick child.

Conclusion

Often there are cases when parents themselves are afraid to give birth to a sick child and refuse it. These fears are not always justified, and if the doctor does not reassure them, then a healthy family can not take place.

Prophylaxis of hereditary diseases begins in the doctor's office. After carrying out the necessary research, the specialist should explain all the nuances to the parents before they make the final decision. In any case, they are the last word. The doctor, in turn, should do everything possible to help the child to be healthy and to establish a healthy family.