Modern medicine has now reached the highest level. Certain successes were recorded in the fight against hereditary diseases. However, no matter how important the treatment of these ailments would be, prevention is a priority. This process is carried out in two directions: preventing the emergence of new diseases and preventing the birth of children in families where hereditary problems are present. 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 hereditary problems, external circumstances, such as the effects of drugs, radiation, etc., can serve as activators of the disease. In any case, the prevention of hereditary diseases must be carried out without fail in order to avoid serious consequences in the future.
The Importance 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 matter, genetic factors are of great importance. For example, several members of a cell in society have established the presence of a hereditary disease. Then other family members must undergo a special examination. It will help identify people who have a predisposition to this ailment. Timely prevention and treatment of hereditary diseases will save you from many problems in the future.
Currently, scientists are working on the study of genes for predisposition to chronic diseases. If everything goes well, then it will be possible to form certain groups of patients and begin to implement preventive measures.
Genetic passport
As already noted, modern medicine is developing every day. This also applies to the prevention of hereditary diseases. Specialists are now seriously considering introducing a genetic passport. It is information that reflects the state of a group of genes and marker loci in a particular individual. It is worth noting that this project has already been pre-approved, and countries such as the United States and Finland allocate investments to develop the idea.
The introduction of a genetic passport seems to be a serious step in the development of diagnosis and prevention of hereditary diseases. After all, with its help it will be possible to easily identify a predisposition to pathology and begin to fight it.
Disease Detection Detection
To begin with, it is worth saying that every family should monitor their health and know about their hereditary ailments. If you correctly compose and analyze the genealogy, you can find the family's predisposition to one or another pathology. Then, using various methods, specialists identify the tendency of individual members of the cell of society to the disease.
Nowadays, genes for predisposing to allergies, myocardial infarction, diabetes mellitus, asthma, oncology, gynecological diseases, etc. are discovered. Sometimes a doctor evaluates the patient's immunity level and determines the presence of altered genes. It is worth noting that hereditary and congenital diseases and their prevention is a rather complicated matter. 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 is required to maintain the confidentiality of information.
After receiving the result, the specialist, also by agreement, can send them 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:
- Genetic diseases. This disease occurs as a result of DNA damage at the gene level.
- Chromosomal diseases. This pathology appears due to the wrong number of chromosomes. The most common hereditary disease of this type is Down syndrome.
- Diseases with a hereditary predisposition. These include diabetes mellitus, hypertension, schizophrenia, etc.
As for methods for the prevention of hereditary diseases, we can distinguish several of the most effective, which will be discussed below.
Identification of the disease before the birth of the baby
At the moment, such studies are very effective. This is due to the introduction of the latest methods of prenatal diagnosis. Thanks to these methods, it became possible to recommend not giving birth to families, and even terminate the pregnancy. One cannot do without extreme measures, because when a hereditary pathology is detected, measures must be taken. Otherwise, unsolvable situations may arise that will lead to serious consequences.
Using prenatal diagnosis, you can predict the outcome of pregnancy with a certain pathology. When conducting various studies, it is very likely to detect problems in the development of the fetus, as well as about five hundred hereditary ailments.
The reason for starting the diagnosis can be:
- identification of a specific disease in the family;
- certain diseases of both parents or only the mother;
- woman's age (over 35 years).
Methods for antenatal diagnosis
Measures for the prevention of hereditary diseases include methods for prenatal detection of ailments. Among them are:
- Amniocentesis. Its essence is the extraction of amniotic fluid. This process is carried out on a 20-week gestation with a puncture of the abdominal wall.
- Chorionbiopsy. This method consists in obtaining chorionic tissue. It should be used earlier, namely at 8-9 weeks of pregnancy. The result is achieved by puncture of the abdominal wall or through access to the cervix.
- Placentcentesis. In this case, you need to get the placenta villi. This method is used at any time during pregnancy. As in previous cases, villi can be obtained by puncture of the abdominal wall.
- Cordocentesis. Experts identify this method as the most effective. Its essence lies in obtaining blood through the puncture of the umbilical cord. Apply the method at 24-25 weeks of gestation.
Pregnancy Study
Diagnosis, prevention and treatment of hereditary diseases in unborn babies with defects is carried out by screening pregnant women. This process is carried out in two stages: identification of the level of 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 protein level is checked twice: at 16 and 23 weeks of pregnancy.
The second stage is relevant only if there are any suspicions that an unborn baby has problems. Ultrasound examination is best done in special institutions. After this, a genetic consultation is performed, on the basis of which the method of antenatal diagnosis is selected. After all the necessary tests are passed, the further fate of the pregnancy will be decided by specialists.
Examination of newborns
What is the prevention of hereditary diseases? This question is asked by many people, because they think that it is impossible to prevent, but 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. A huge number of such programs have been developed. They help to examine 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.
There is such a practice in Russia now. Diagnostics and treatment programs for hypothyroidism and phenylketonuria have been introduced in some clinics. As a test, they take blood from children on the 5-6th day of life. Those who have identified violations belong to a certain risk group. Such children are prescribed treatment, due to which the chance of complications is significantly reduced.
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 yet been born.
Counseling can only be carried out by a highly qualified specialist in the field of genetics. This method is perfect for preventing the birth of children with hereditary diseases that are difficult to treat. The purpose of counseling is to determine the risk of a baby being born with a hereditary illness. Also, the doctor needs to explain to parents the importance of this procedure and provide assistance in making a decision.
Grounds for counseling
Prevention of hereditary diseases is developed at a high level thanks to new methods and methods. Genetic counseling is carried out in the following cases:
- a child is born with a congenital developmental pathology;
- suspicion or establishment of a hereditary disease in the family;
- marriages between relatives;
- if there have been cases of abortion or stillbirths;
- pregnant age (over 35 years);
- pregnancy is difficult and complicated.
The doctor assumes enormous responsibility when he gives advice on which the prevention of the birth of an inferior child doomed to physical and mental suffering depends. Therefore, it is necessary to be based not on impressions, but on accurate calculations of the probability of having a sick child.
Conclusion
Often there are times when parents themselves are afraid to give birth to a sick baby and refuse it. These fears are not always justified, and if the doctor does not convince them, then a completely healthy family may not take place.
Prevention of hereditary diseases begins in the doctor’s office. After conducting the necessary research, the specialist must explain all the nuances to the parents before they make a final decision. In any case, it is their last word. The doctor, in turn, must do everything possible to help the child be born healthy and establish a healthy family.