What is the essence of genetic counseling? What methods are used for this?

Genetic counseling is one of the types of specialized assistance to the population, aimed primarily at preventing the appearance of children with a hereditary pathology in the family. Counseling begins with a genealogical map and a diagnosis. Biochemical and cytogenetic studies are carried out. Next, the geneticist analyzes the pedigree and predicts the likelihood of a sick child being born. When making a forecast, the nature of a hereditary disease, its repetition among relatives, is taken into account. In the case of a single pathology, when the disease is not of a family nature, the possible causes of the anomaly are clarified. These can be genomic or chromosomal mutations that arise in the gametes of the parents or in the early stages of fetal development. After that, the doctor assesses the genetic risk and makes recommendations to the antenatal diagnosis of the fetus. The prognosis of the appearance of probable offspring, carried out in medical genetic consultations, does not allow us to unequivocally answer whether a child will be born healthy or sick. More reliable methods of prenatal diagnosis aimed at identifying developmental abnormalities, the establishment of certain diseases in the fetus. The most important is the study of amniotic fluid – amniocentesis. It is known that it contains substances secreted by the developing embryo, as well as a certain number of germ cells. At the 16th week of pregnancy, a sample of amniotic fluid in an amount of 15-20 ml is taken with a syringe (Fig. 242). After centrifugation, fetal cells are grown in culture medium for two weeks. Next, a microscopic examination of the chromosomes is carried out. In case of detection of serious abnormalities, it is recommended to terminate the pregnancy. Modern methods make it possible to diagnose more than 60 hereditary diseases.

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