At present, the laboratory of medical genetics has been renamed the Republican Medical and Genetic Consultation, which performs the functions of a scientific and consultative and methodological center and is the only scientific unit of this profile in Kazakhstan.
The Republican Medical Genetic Consultation provides qualified medical and genetic assistance to the population of the republic, including cytogenetic, biochemical, invasive methods of prenatal diagnosis, cytogenetic analysis of bone marrow cells, molecular genetic diagnosis of bacterial and viral infections.
The chromosome synchronization method was implemented, the molecular-cytogenetic FISH-method was introduced, which significantly increased the accuracy of the diagnosis of chromosomal abnormalities. Widely conducted cytogenetic analysis of bone marrow cells in hemoblastoses, which allows not only clarify the diagnosis of leukemia, determine the prognosis of the disease, but also monitor the effectiveness of the therapy.
For the first time in the RK and Central Asia, the Center, with the financial support of the Swiss Science Foundation, developed and introduced molecular genetic methods for diagnosis, including prenatal, hereditary diseases. For a number of hereditary diseases, they are the only reliable diagnostic methods, their treatment is ineffective and the development of the disease quickly leads to severe disabling consequences and lethal outcomes.
Molecular genetic diagnosis of hereditary diseases in Kazakhstan is begun with the most common diseases - cystic fibrosis and phenylketonuria. The frequencies of the most common mutations of the CFTR and phenylalanine hydroxylase genes in the Kazakh population are analyzed, the spectrum of diagnostic mutations is determined, the features of the clinical manifestation of major mutations are studied. The result of these studies will be the creation of a system of molecular-genetic prenatal and postnatal diagnosis of cystic fibrosis and phenylketonuria in Kazakhstan.
For the first time in the Republic of Kazakhstan, molecular genetic testing for hereditary-predisposing diseases - endometriosis, habitual miscarriage of pregnancy, gestosis of pregnant women, cardiovascular diseases, schizophrenia - has been started. For the first time in Kazakhstan and the Central Asian Republics, genomic fingerprinting - DNA diagnostics of polymorphic gene loci for identifying a person, establishing controversial paternity, relationship was introduced.
On the basis of the Center, more than 15 republican and international research grants were implemented. The main directions of scientific research conducted by the staff of the Laboratory of Medical Genetics in cooperation with the leading medical genetic centers of the world (Great Britain, Germany, Iceland, Spain, Russia, Turkey, France, Finland and Switzerland) are: genetic monitoring and evaluation of the medical genetic consequences of adverse effects Environmental factors in the regions of the Republic of Kazakhstan, population-genetic studies, medical genetic counseling of pregnant women at risk, eticheskie study of hereditary and genetically-prone diseases in Kazakhstan.
MEDICAL-GENETIC CONSULTATION OF PREGNANCY
The genetic doctor advising pregnant women solves the following main tasks: - Determination of the prognosis of the health of the unborn child, - Identification of the high-risk group for the birth of a child with congenital and hereditary pathology, - Diagnosis of congenital diseases during pregnancy - Preventing the development of anomalies before pregnancy . On an appointment with a geneticist you should be directed by an obstetrician-gynecologist. The need for consultation with a geneticist is also determined by your obstetrician-gynecologist.
The majority of pregnant women who have been consulted will receive a favorable prognosis for the health of their baby, which will increase confidence in a good outcome of pregnancy!
A small number of pregnant women will need special methods of research, but it can be solved only by a geneticist after a conversation with you. There is a contingent of pregnant women, to whom consultation of genetics is mandatory!
In what cases is the consultation of a geneticist mandatory?
• The husband and wife are blood relatives
• The age of a pregnant woman under 18 years of age or over 35 years of age
• Infertility or miscarriage (spontaneous miscarriages, undeveloped pregnancies, premature birth, stillbirth)
• The presence in the family or relatives of births of children with congenital malformations, hereditary disease, mental retardation, sexual or physical development
• The work of one of the spouses is related to harmfulness (contact with chemicals, radiation, etc.)
• Taking drugs, alcohol, drugs at the time of conception or during pregnancy. - Acute infection or exacerbation of chronic diseases in a pregnant woman
• Radiographic examination at conception or during pregnancy
• Planning pregnancy by IVF methods
• "positive" prenatal screening for pregnant women
This contingent of pregnant women is included in the group of high genetic risk, since all of the above factors can develop due to the presence of mutations or themselves can lead to genetic disorders. A genetic doctor after a comprehensive medical genetic test will help the family minimize the risk, and in some cases completely eliminate the risk of developing severe fetal diseases.
If a pregnant woman does not belong to one of the groups listed above, then she must pass prenatal screening. If the results of screening - without deviations, then such a pregnant special consultation of a geneticist, as a rule, is not required.
What is prenatal screening?
Prenatal screening (from English screening - screening, sorting) is a complex of mass diagnostic measures in pregnant women to search for severe developmental anomalies and indirect signs (markers) of fetal pathology.
Screening is a study that all pregnant women should undergo. Screening in the screening program is completely safe, simple and affordable. The results of the survey are issued in a short time.
Properly screened can not diagnose fetal diseases, it helps identify a high-risk group!
What is a high-risk group?
Pregnant women who have been screened and have any abnormalities fall into this group. This does not mean that their children will necessarily be born ill. But in such pregnant women, a child with developmental defects is born more often than other pregnant women of her age. Pregnant group at risk, a geneticist will offer more accurate than screening, research methods that are already likely to exclude the disease in a future baby.
Prenatal screening includes two main studies - ultrasound screening and biochemical screening (analysis of pregnant women's blood for the content of specific proteins).
Mass screening in Kazakhstan is compulsory and any obstetrician-gynecologist in any institution where you are observed (public or private) is required to provide screening to pregnant women as soon as possible.
Ultrasound screening involves a 3-fold examination of the fetus - at 10-14 weeks, 20-24 weeks, 30-34 weeks. In the study at 10-14 weeks, you can find gross developmental defects - anencephaly, omphalocele, cervical hygroma and some others. Also on ultrasound in this period define the marker of frequent chromosomal disease, Down's syndrome - the thickness of the collar space