We are trembling in our eyes

The advancement of medicine in many areas is far ahead of its application. Such is the science of genetics, which can save lives, improve the quality of life, if its results are taken into account and well utilized. That's what genetic counseling does.

We are trembling in our eyes

Causes, prevention and cure of congenital anomalies and other diseases (eg high blood pressure, heart attack, cancerous diseases, etc.) due to human malformations the three branches of genetics deal with.Humбngenetikбnak call it the (not necessarily medical) science that deals with the examination of the characteristics of the human being. The medical genetics is aimed at prevention with the help of genetic counseling. The activity is based on genetic-teratological epidemiology ("biostatistics"). THE clinical genetics deals with the cure for congenital anomalies.

A genetic counselor can help

Genetic tips should be included in the following cases:
  • any parent with a congenital anomaly,
  • congenital malformation of any parentage,
  • any persistent chronic illness,
  • in the case of cumulative illness in any parent family,
  • if any of the previous pregnancies have resulted in a congenital anomaly,
  • before kinship,
  • in the event of repeated miscarriage,
  • if a woman's pregnancy is forced to take herbal medicine,
  • if she has been exposed to radiation during her pregnancy,
  • And in all other cases, when there is an increased risk of congenital anomaly.

Feel free to ask

The older method of genetic counseling, in which the doctor guided patient decision making, is called a direct method. This is unethical today. The it is the responsibility of the physician to objectively illuminate the parents and make informed decisions to further the care of the sick child. During the genetic counseling, the physician should answer the following questions:
  1. What is the diagnosis?
    You must provide the exact name of the disease on which your medical history is kept. They cannot start, e.g. multiplication developmental abnormalities with a list of abnormalities. Diagnosing a diagnosis is the most difficult process in genetic counseling. Fortunately, there are a number of exceptional databases available to doctors, including today on the Internet. For example, all known monogeneous harm catalogs are coded as "McKusick (e: mecuika) catalogs" where each entity can be identified by code.
  2. What caused the disorder?
    The exact diagnosis must be made to determine whether the particular disorder is due to chromosome aberration, a single gene defect, multiple gene defects, and / or environmental damage.
  3. What does the disorder involve?
    If the disorder is of genetic origin, it is important to determine how it is transmitted. Without this, you cannot give an exact answer to any further request. There is a need to set up a fraudulent cleanse, which requires serious knowledge.
  4. What is the risk of recurrence?
    If the disease is accurately identified, the risk of recurrence should not be a problem. There are also genetically heterogeneous pathologies, meaning that multiple injuries cause a similar disorder. In this case, there is a risk of empirical recurrence based on data available in the literature. If such an abnormality has occurred in the family, family tree analysis can be used to track the malfunctioning gene.
  5. What is the risk of teratogenicity?
    Certain maternal conditions require medication during pregnancy. We also need to recognize the teratological risk. For example, in mental depression, the risk of recurrence of the underlying disease is approx. 10%, which may also be increased by the risk of fetal lithium heart failure (8%). In addition to determining the risk of recurrence of epilepsy in mothers with epilepsy, the risk of the drug used for treatment should be assessed.
  6. What is the maternal risk?
    Certain pregnancy diseases, such as secondary toxemia, not only endanger the life and health of the fetus, but also exacerbate the underlying disease of the mother (eg, renal disease). Of course, maternal ("maternal") risk must also be taken into account in the course of genetic counseling.
  7. Helps to heal the child
    The genetic counseling physician should also play an active role in organizing the healing of the sick child. Because genetic counseling is predominantly a very rare disorder, it is collected internationally in order to provide doctors and health professionals with appropriate experience in the care of abnormal children. It is the duty of the genetic counselor physician to know the most important centers and to actively communicate in the placement of the child under optimal conditions.


From the point of view of risk aversion differentiate between general risk, family or specific risk, and current risk. As a general rule, every child has to bear the risk of having a child. If we say that the incidence of Down syndrome in childbirth is 1/1000 of all births, then the disorder is a normal risk for everyone. At the age of 40, this ratio is about 1/50 of the total number of births, which is called risk or specific risk for a given parent. If we consider that Down syndrome is 100% safe to detect, the actual "actual" risk is virtually zero (not counting the risk of spontaneous intervention plus 0.5%) йrvйnyesьlnek megelхzйsi principles (l. Betegsйgek megelхzйse c. article), that is, the rendellenessйg szьletйskorlбtozбssal йrhetх it. Eredmйnyesen gondozhatу rendellenessйgek esetйn increasingly gaining ground in Joshua Lederberg nevйhez fыzхdх euphenics megelхzйs. in this case szьletйskorlбtozбs not tцrtйnik. Fenilketonъria esetйn, pйldбul йrvйnyes the egйsz populбciуra бltalбnos risk 1/10 000 total births.Brothers have a 25% risk of recurrence. With a proper phenylalanine-free diet, however, brain damage can be avoided. Expertise and special care for children or living with parental control. The activity of genetic counseling can only focus on enlightenment.

The results of genetics must be used!

Unfortunately, physician genetics has not yet lost its place among medical disciplines. This is clearly a historical heritage. During the period of socialism, misinterpretations of some of the teachings of Marx and Engels continued, in Eastern European countries, to simply curtail the education of the humanities in medical science. Because of this, many physicians believe that genetics are at stake. Neither are the drug companies, who are much easier to convince them to "contraindicate during pregnancy". All of this, today, in our country, about 5-6,000 pregnancies are terminated without medical justification, but for "medical indication." It is also time for practicing physicians to recognize that genetic counselors can take significant responsibility for their services if they are not likely to suffer from this type of human loss. Adequate management of the drug due to its harmful side effects.