Modern medicine has now reached the highest level. Certain successes have also been recorded in the fight against hereditary diseases. However, as important as the treatment of these ailments would be, the priority is prevention. This process is carried out in two directions: preventing the emergence of new diseases and preventing the 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 hereditary problems, external circumstances, such as exposure to 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 meaning of genetics
It is worth noting that before engaging in prevention, it is necessary 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 of society were found to have a hereditary disease. Then other family members must undergo a special examination. It will help identify people who have a predisposition to this disease. 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 predisposing 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 already noted, modern medicine is developing every day. This also applies to the prevention of hereditary diseases. Specialists are now seriously thinking about introducing a genetic passport. It represents information reflecting 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 are allocating investments to develop the idea.
The introduction of the genetic passport seems to be a serious step in the development of diagnostics and prevention of hereditary diseases. After all, with its help it will be easy to identify a predisposition to pathology and begin to deal with it.
Disease Tendency Detection
To begin with, it is worth saying that every family should monitor their he alth and be aware of their hereditary ailments. If acorrectly compose and analyze the pedigree, it is possible to detect the predisposition of the family to a particular pathology. Then, using various methods, specialists identify the presence of a tendency of individual members of the cell of society to the disease.
In our time, genes of predisposition 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 should be noted that hereditary and congenital diseases and their prevention is a rather complicated matter. Therefore, you first need to conduct the most complete research in order to have an idea of \u200b\u200bthe problem. Medical examinations should be carried out only with the consent of the individual, while the specialist is obliged 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 disease, 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 species is Down syndrome.
- Diseases with hereditarypredisposition. These include diabetes, hypertension, schizophrenia, etc.
As for the methods of preventing hereditary diseases, there are several of the most effective, which will be discussed below.
Identification of the disease before the baby is born
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 to have children in families, and even to terminate the pregnancy. It is impossible to do without extreme measures, because when a hereditary pathology is detected, it is necessary to take measures. Otherwise, unsolvable situations may arise that will lead to serious consequences.
With the help of prenatal diagnosis, it is possible to predict the outcome of a pregnancy with a certain pathology. When conducting various studies, it is possible with a great degree of probability to detect problems in the development of the fetus, as well as about half a thousand hereditary ailments.
The reason for starting a diagnosis can be:
- identifying a specific disease in the family;
- certain diseases of both parents or only the mother;
- woman's age (over 35).
Prenatal Diagnosis Methods
Measures for the prevention of hereditary diseases include methods of prenatal detection of ailments. Among them are:
- Amniocentesis. Its essence lies in the extraction of amniotic fluid. This processcarried out at 20 weeks of gestation by means of a puncture of the abdominal wall.
- Chorion biopsy. This method consists in obtaining chorion tissue. It should be used earlier, namely at 8-9 weeks of pregnancy. The result is achieved with a puncture of the abdominal wall or through access to the cervix.
- Placentocentesis. In this case, you need to get the villi of the placenta. This method is used at any time during pregnancy. As in previous cases, villi can be obtained by puncturing the abdominal wall.
- Cordocentesis. Experts identify this method as the most effective. Its essence is to obtain blood by puncturing the umbilical cord. Apply the method at 24-25 weeks of gestation.
Pregnancy Study
Diagnosis, prevention and treatment of hereditary diseases in unborn children with defects is carried out using screening of pregnant women. This process is carried out in two stages: detection of blood protein levels and ultrasound of the fetus.
The first procedure is performed by obstetricians or gynecologists who are qualified and have the necessary equipment. Protein levels are checked twice: at 16 and 23 weeks of pregnancy.
The second stage is relevant only if there are any suspicions that the unborn child has problems. Ultrasound examination is best done in special institutions. After that, a genetic consultation is performed, on the basis of which a method is selected.prenatal diagnosis. After all the necessary tests are passed, the further fate of the pregnancy will be decided by specialists.
Examination of newborn babies
What is the prevention of hereditary diseases? This question is asked by many people because they think it cannot be prevented, but they are wrong. 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 make a survey of the preclinical picture of certain diseases. They take place to be if the disease is severe. Then, in case of early and timely diagnosis, the disease can be cured.
In Russia now there is such a practice. Some clinics have introduced programs for the diagnosis and treatment of hypothyroidism and phenylketonuria. As a test, blood is taken from children on the 5th-6th day of life. Those with identified violations belong to a certain risk group. These children are given treatment that significantly reduces the chance of complications.
Genetic counseling
Genetic counseling is a 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're talking about children.who haven't even been born yet.
Counseling can only be done 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 child being born with a hereditary disease. Also, the doctor should explain to the parents the meaning of this procedure and help them make a decision.
Grounds for counseling
Prevention of hereditary diseases is developed at a high level thanks to new methods and techniques. Genetic counseling is carried out in the following cases:
- a child is born with a congenital pathology of development;
- suspicion or establishment of a hereditary disease in the family;
- marriages between relatives;
- if there were cases of abortions or stillbirths;
- pregnant age (over 35);
- pregnancy is difficult and with complications.
The doctor takes on a huge responsibility when he gives advice on which depends the prevention of the birth of a handicapped 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 having a sick child.
Conclusion
There are often times when parents themselves are afraid to give birth to a sick baby and refuse to do so. These fears are not always justified, and if the doctor does notconvince them, then a completely he althy family may not take place.
Prevention of hereditary diseases starts 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, they have the last word. The doctor, in turn, must do everything possible to help the child be born he althy and establish a he althy family.
