Pregnancy is a long-awaited state for a woman. However, this is also a period of worry. After all, the normal course of pregnancy is far from a guarantee that the baby will be born without pathologies. On early Diagnostic measures are required to help exclude chromosomal pathologies.
Fetal chromosomal abnormalities are the appearance of an additional (extra) chromosome or a disturbance in the structure of one of the chromosomes. This happens even during intrauterine development.
So, everyone knows about Down syndrome. This is a disease that develops in utero. It is associated with the appearance of an extra chromosome directly in the 21st pair. Thanks to diagnostics, as well as external manifestations of the course of pregnancy, it is possible to identify such a pathology even at an early age. early stages fetal development.
Causes of chromosomal abnormalities
Chromosomal defects can develop for various reasons. Often these are health problems in the mother:
- infections;
- problems with the endocrine system;
- diseases of any internal organs;
- toxicosis during pregnancy;
- previous abortions;
- risk of miscarriage.
An important role is played by ecology, which constantly affects the woman’s body, as well as environmental features:
The hereditary factor is also important. Gene mutations, chromosome aberrations – common reasons development of anomalies.
Already when planning a pregnancy, you need to think about a balanced diet:
- All main ingredients must be present in the menu in sufficient quantities (vitamins, fats, minerals, carbohydrates and proteins).
- You need to make sure that the menu contains products with micronutrients (polyunsaturated fatty acids, microelements important for the body). Thus, a deficiency of an element such as iodine in the body can lead to impaired brain development of the unborn child.
Risk factors
There are many risk factors for developing chromosomal abnormalities. On the mother's side these are problems such as:
There are also risks from the fetus:
- Developmental delay.
- Multiple pregnancy.
- Abnormalities in presentation.
Medicines, pregnancy and chromosomal pathologies
Many medications that a woman takes during pregnancy affect the fetus:
- aminoglycosides have a toxic effect on ear and kidney development;
- aloe promotes increased intestinal motility;
- antihistamines can cause tremors and significantly reduce blood pressure;
- androgens are the cause of the development of fetal defects;
- anticoagulants can cause problems with bone formation, as well as encephalopathy;
- atropine is a cause of brain dysfunction;
- belladonna causes tachycardia in the fetus;
- blood pressure lowering agents significantly reduce blood flow to the placenta;
- diazepam can harm the appearance of the unborn child;
- corticosteroids inhibit the functional purpose of the adrenal glands, leading to encephalopathy;
- caffeine damages the fetal liver;
- lithium develops heart defects;
- Opiates affect brain activity;
- anticonvulsants significantly delay intrauterine development baby;
- tetracyclines lead to skeletal abnormalities.
Signs
The process of development of anomalies in intrauterine state Today it has not been studied enough. That is why signs of anomalies are considered conditional. Among them:
All these signs can be the norm of fetal development, provided that the child’s or mother’s body has a similar characteristic. Blood tests, invasive techniques, and ultrasound will help make sure that chromosomal abnormalities are present as accurately as possible.
Diagnostics
The main task of diagnostic measures that are prescribed during pregnancy is to identify fetal malformations. Today there are a huge number of methods that allow you to accurately diagnose or exclude the presence of anomalies.
Non-invasive methods:
- Ultrasound is prescribed 3 times throughout the pregnancy (up to 12 weeks, at 20-22 weeks and 30-32 weeks).
- Determination of biochemical markers in blood serum. hCG, protein A - deviations from the norm may indicate ectopic pregnancy or the development of chromosomal abnormalities. Alpha-fetoprotein – a reduced level indicates a risk of developing Down syndrome, and increased level will tell you about a possible defect of the central nervous system. Estriol - normally should gradually increase with increasing pregnancy.
Invasive techniques:
After the birth of the child, any methods from the arsenal of modern medicine can be used to determine anomalies:
- radiation methods (CT, CTG, X-ray, ultrasound);
- endoscopic;
- research of biological materials;
- functional tests.
Possible pathologies
The development of many anomalies is observed during specific periods of pregnancy:
- 3 weeks – ectopia of the heart, absence of limbs, and fusion of the feet;
- 4 weeks – absence of feet, hemivertebra;
- 5 weeks – splitting of the facial bones, as well as such terrible problems as the absence of hands and feet;
- 6 weeks – complete absence of the lower jaw, as well as heart disease, lenticular cataract;
- 7 weeks – absolute absence of fingers, development of a round head, incorrigible cleft palate above, as well as epicanthus;
- 8 weeks – absence of the nasal bone, shortening of the fingers.
The consequences of the development of chromosomal problems are very diverse. These can be not only external deformities, but also lesions and disturbances in the functioning of the central nervous system. The pathologies that arise depend on what kind of chromosome abnormality occurred:
- If the quantitative characteristics of chromosomes are disturbed, Down syndrome may occur (in 21 pairs there is one extra chromosome), Patau syndrome (a severe pathology with numerous defects), Edwards syndrome (often appears in children of elderly mothers).
- Violation of the number of sex chromosomes. Then the development of Shereshevsky-Turner syndrome (development of the gonads according to the wrong type) is likely; polysomies are characterized different problems, Klinefelter syndrome (disorders specifically in boys on the X chromosome).
- Polyploidy usually ends in death in the womb.
Gene mutations have not yet been fully studied by scientists. The reasons for their development are still being investigated by specialists. But already 5% of all pregnant women in the world have genetic abnormalities of the fetus.
They are called solar children, they bring a lot to their parents bright joy and the greatest sorrow. Children with Down syndrome can be born into absolutely any family. Even if healthy children were born before, there is still a chance that the cells will fail during division, and the karyotype (set of chromosomes) of the newborn will be represented by 47 chromosomes instead of the required 46. In this case, the chromosomes of the last 21st pair will be absolutely identical. Hence the name of the diagnosis - trisomy 21. Currently, markers of chromosomal pathology of the fetus make it possible to identify Down syndrome. In other words, these are signs by which the doctor can predict whether the child will be born healthy or not.
Main types of markers
There are quite a few signs of Down syndrome. It should be immediately noted that there is no need to panic if suddenly the doctor writes about the presence of one of them. Even if there are several markers, the child will most likely be born healthy. So, the main physical pathologies of the fetus can be examined by ultrasound. Main sign- this is an increase in the collar space. At 10-12 weeks, the width of the neck fold should not exceed 2.5-3 mm. However, if there is an excess, then it’s okay. Even if the thickness is about 9 mm, the probability of having a child with Down syndrome will still not be 100%. With slight excesses, the likelihood of pathology is minimal.
A very common sign of chromosomal pathology of the fetus, which expectant mothers are afraid of, is the reverse movement of blood in the umbilical cord. This is indeed a fairly serious violation that can lead to the destruction of the fetus. However, at short stages of pregnancy, reverse blood flow can be detected erroneously. It can pass not through the artery itself, but through the vena cava, where it may well exist without harm to the child. At the same time, if you have such suspicions, you should come for examination more often.
External markers of fetal pathology are more later pregnancy can be the following: the presence of a small chin, rapid heartbeat, flat bridge of the nose, “Mongolian” epicanthus. Of course, other anomalies that can be identified by experienced doctors also affect the diagnosis. The special shape of the arms, legs, face, back of the head - all this can be an additional sign of Down syndrome. During the examination, you need to pay attention to the presence of an umbilical cord cyst, swelling of the back, and the length of the nasal bones.
As for chemical indicators, doctors traditionally study the level of PAPP-A protein. Normally, in pregnant women, the protein concentration increases, so its low level may indicate the development of Down syndrome and other pathologies.
Ultrasound - the first stage of examination
Ultrasound examination is carried out both at 10-12 weeks and at later stages of pregnancy. Of course, it is mainly aimed at identifying a frozen or ectopic pregnancy. But if, for example, there is a threat of a child with Down syndrome, then the echoscopist doctor focuses on this.
If trisomy is suspected, an ultrasound scan follows a specific plan. First of all, it is determined whether there is an increase in the thickness of the collar space. Next, the nasal bones of the fetus are analyzed to see if they are reduced. Sometimes the nasal bones are completely absent, which is also a marker of chromosomal pathology. The final stage of the external examination is to identify the facial angle. If it is more than 88.5 degrees, then this is also a sign of a possible disease.
The second part of the ultrasound examination relates to the examination of cardio-vascular system fetus The venous duct is examined for reverse blood flow, the tricuspid valve of the heart, and the presence of various anomalies is detected. The heart rate is also checked.
Ultrasound examination of pregnant women is done in two ways. The first is classic - it is performed externally, the peritoneum is checked. The second method is transvaginal. It is quite unpleasant, and the woman is required to drink about half a liter of water before the examination. The transvaginal method involves invasion through a special vaginal sensor. This method is more accurate; for example, it measures the collar space almost perfectly. However, one must understand that any ultrasound may not provide a complete picture. For example, due to the umbilical cord wrapped around the neck, measuring the collar area is absolutely unrealistic. The woman's physique may be such that the fetus can barely be seen. In addition, the doctor’s experience plays a big role. He must not only be good at taking measurements, but also know the smallest nuances of the structure of the fetus. That is why you always make an appointment with good doctors a month in advance.
The first ultrasound is usually done at 12 to 13 weeks. It allows you to identify initial markers of the threat of Down syndrome. The second ultrasound is performed at 20-22 weeks, the third - shortly before birth. Usually, an experienced doctor can tell about the presence of chromosomal abnormalities with a probability of up to 70-80%. 
Biochemical screening
As a rule, doctors refer several before ultrasound. This is done precisely because if screening shows the likelihood of Down syndrome and other abnormalities, then this can be checked more thoroughly with an ultrasound. It is worth noting that in some cities of Russia such an analysis is mandatory for all pregnant women. But in some places they take it voluntarily. Therefore, it is better to do it before the ultrasound.
Biochemical screening involves taking a woman’s venous blood for analysis. There is one small but very important condition: this procedure should only be done from 11 to 13 weeks of pregnancy. After week 14, the significance of the PAPP-A protein for research is significantly lost, and therefore the diagnosis will be very inaccurate.
So how does it all work? The PAPP-A protein is part of a hormone called human chorionic gonadotropin; in all documents and certificates it is also designated by the abbreviation hCG. This hormone is the most important indicator during pregnancy. By week 10, hCG concentration reaches its maximum. However, excessive high level of this hormone may indirectly indicate the presence of chromosomal pathology. And if the level of PAPP-A protein is very low, then the likelihood of trisomy 21 increases many times. The lower protein level is 0.5 MoM, and the upper limit of hCG concentration is 2 MoM. Therefore, if these indicators are critically impaired, it’s time to check the fetus with an ultrasound.
Given that technology is constantly evolving, recent developments have made it possible to release strips for determining hCG and PAPA-A levels in urine. But since the results of these strips are not yet very accurate, large hospitals continue to take blood tests.
In addition to PAPP-A, biochemical screening may involve the study of other glycoproteins. For example, in the second trimester of pregnancy, a high concentration of the SP1 glycoprotein can indicate Down syndrome. If for a healthy fetus it is 1 MoM, then for a sick fetus it is 1.28 MoM. However, the increase in SP1 may be due to other factors. The accuracy of diagnosing Down syndrome using this parameter is only 20%.
Inhibin A is a glycoprotein, one of the main markers of chromosomal pathology. It is watched in the first and second trimester of pregnancy. If the concentration of inhibin A is 1.44-1.85 MoM, there is also Great chance birth of a child with trisomy 21.
Carrying out calculations
Absolutely any study of markers cannot provide an accurate diagnosis. You can only calculate the probability of having a child with chromosomal abnormalities. Considering that many parameters are being studied, correct calculation of patterns and probabilities would take a lot of time from doctors. Therefore, specialized software is used for calculations. Using this software, individual risk is calculated.
How to interpret the results of marker processing?
If the computer calculates that the risk of having a child with pathologies is lower than 1:1000, you don’t have to worry too much.
In this case, there is no point in going for repeated examinations. If the risk is higher, for example, from 1:999 to 1:200, then it is better to repeat the biochemical screening in the second trimester, and again undergo an ultrasound at 15-17 weeks. Again, with average risk indicators, the chances of giving birth healthy child still remain maximum. If the risk is a proportion of 1:100 or higher rates, for example, 1:10, then the pregnancy will have to pay more attention and undergo the necessary repeated examinations.
If the computer reveals a high probability of pathology, it is worth reviewing the test data yourself again. They could simply be entered incorrectly into the computer, and the examinations themselves could be carried out with errors. Considering that doctors work with a huge number of pregnant women, the human factor plays a very important role. Therefore, there is nothing special to be happy about that the system showed a low probability of the fetus having diabetes. There is always risk.
It is worth remembering that examinations prescribed in late pregnancy are less accurate than in early pregnancy. If screening was not possible within 10-14 weeks, then later tests reduce the likelihood of detecting anomalies by tens of percent.
The accuracy of the study can also be increased by studying hCG hyperglycosylate, S100 protein and some other markers. In ordinary clinics such research is rarely carried out, but in private laboratories and in some places abroad such services are provided. These markers provide about 60% accuracy in identifying diabetes.
Factors influencing the development of chromosomal pathologies
Of course, biochemical and physical markers of chromosomal pathology make it possible to predict with a high degree of probability the risk of having a child with abnormalities. However, women who are just planning to have a child often think about preliminary factors that may influence the development of such deviations. There is a very good reason for concern, because according to statistics, for every 700-800 children, 1 child is born with Down syndrome.
To a certain extent, chromosomal mutations are influenced by heredity. For example, if the husband had relatives with Down syndrome in his family, the risk increases slightly. Although it has been precisely established that there is no direct transmission of the disease from generation to generation. Moreover, if a married couple gives birth to a sick child, they may well give birth to other healthy children. The risk, of course, increases, but is not absolute. Another interesting pattern is also observed. For example, if one of the identical twins is sick with diabetes, then the second one is also sick. But if the twins are dizygotic, then, as a rule, only one child is susceptible to the chromosomal mutation.
Scientists have also found that the risk increases if there is some serious disease in the family that is inherited. There is a pattern according to which diabetes mellitus, inherited, increases the risk of having a child with diabetes.
The age of the mother also greatly influences the possible birth of a child with chromosomal abnormalities. Therefore, doctors recommend having children as early as possible. After 42 years of age, the risk increases many times over. However, newborns with Down syndrome are also found in 20-year-old women in labor. The age of the father may also increase the likelihood of anomalies to a certain extent. Usually, if the total age of the couple exceeds 70 years, then during pregnancy it is worth undergoing a full examination for the presence of markers.
Radiation radiation, serious illness during pregnancy, and experiences can affect the birth of children with diabetes.
Of course, geneticists cannot determine the exact factors influencing the birth of children with disabilities. And hardly a woman, sincerely loving a man, will refuse to conceive with him due to some genetic disease. But try to give birth to a child in a more early age, up to 35 years old, it’s quite possible.
What to do if markers are detected and there is a high probability of being born with diabetes?
Every woman has her own concepts of morality and conscience. Statistics show that when performing ultrasound and biochemical screening, the probability of having a child with Down syndrome can be reduced from 1:800 to 1:1300. This can be achieved through termination of pregnancy. However, even if several markers indicate pathology, there is still a possibility that the fetus is healthy. Therefore, by terminating a pregnancy, it is quite possible to kill a healthy fetus. If a woman is older, after an abortion she may never be able to give birth.
In many countries, identifying markers is aimed at enabling the mother to psychologically prepare for the birth of a “sunny” child. Of course, it is much harder with such children than with ordinary ones. However, most families who find themselves in such a situation, although they face difficulties, still call themselves happy and love their child very much, despite the fact that he is not like everyone else. If you work with your child, he may well integrate into ordinary society. Children with Down syndrome make excellent musicians and artists, many of them are truly talented. There are cases when people with such a disease lived until they were 50-60 years old, worked, had families, and even achieved some success. It all depends on the parents, care, and how the child is treated.
There is nothing catastrophic in the birth of a child with such a pathology. But even if all the markers indicate that a child may be born with the disease, there is still a significant chance that the predictions are misleading.
Children are in any case joy and happiness, no matter how they were born.
Chromosomal pathology is a violation in the structure, structure of chromosomes, a change in the number of chromosomes. Chromosomal pathology is a number of hereditary diseases caused by various genomic mutations and structural changes in chromosomes.
Study of chromosomal pathology Chromosomal pathology is a disorder in the structure and structure of chromosomes, which leads to the development of defects and hereditary diseases. The study of chromosomal pathology is offered to everyone,
- who is at risk:
- Women who are planning a pregnancy over the age of 35.
- Women who have had a spontaneous abortion.
- Women with a history of stillborn children.
- Spouses who have close relatives with hereditary diseases.
Other reasons.
Chromosomal pathologies during pregnancy Pregnant women undergo the first check for the presence of chromosomal pathology from 9 to 13 weeks. The second stage of perinatal biochemical screening takes place during pregnancy from 16 to 18 weeks. Chromosomal pathologies are not often detected during pregnancy, but they can lead to missed abortion,, premature birth spontaneous miscarriage
. If a chromosomal pathology during pregnancy is detected in time, the woman has the right to decide what to do next - give birth to a sick child or terminate the pregnancy.
Analysis for chromosomal pathologies of the fetus
Analysis for chromosomal pathologies of the fetus is a study of biochemical markers, which is carried out in the first trimester of pregnancy. A pregnant woman secretes substances from the placenta and fetus that enter the mother's blood. Analysis for chromosomal pathologies of the fetus allows you to determine the concentration of these substances in the mother’s blood. Blood for chromosomal pathology is taken from a vein.
Fetal chromosomal studies Chromosome studies of the fetus include chorionic villus sampling and amniocentosis. Chromosomal studies of the fetus of this species are carried out if analysis for chromosomal pathologies of the fetus shows abnormalities. Amniocentosis is a puncture of the amniotic membrane, during which a sample is taken amniotic fluid For. Chorionic villus sampling is the process of obtaining a sample of placental tissue (chorionic villi). These fetal chromosomal studies help diagnose many chromosomal pathologies.
Children with chromosomal pathology
Children with chromosomal abnormalities have certain external signs. Down syndrome is characterized by slanting palpebral fissures, a flat bridge of the nose, and a flat facial profile. A flat facial profile occurs in almost 90% of children with Down syndrome, and a flat bridge of the nose occurs in 65% of affected children. Children with chromosomal pathology, Down syndrome, have distinctive features - an open mouth, a slightly protruding tongue, an epicanthus, a characteristic short stature hair on the back of the head, also noted on the back of the head excess skin. These signs of pathology are found in 80% of cases of Down syndrome; in 60% of cases, dysplastic ears, short fingers, and a narrow palate are noted. In a child with Down syndrome, the shape of the teeth changes - they take on the appearance of sharp fangs, the appearance language - the language resembles a geographical relief, it is given the name “geographical language”. Down syndrome is accompanied by many developmental disorders - mental retardation, muscle hypotonia, which occurs in 80% of cases of pathology. Pathology of heart development in Down syndrome is detected on average in 50% of sick children. Children with chromosomal pathology Down syndrome have reduced immunity.
Chromosomal pathology Down syndrome has several forms:
- A simple form is the chromosomal pathology Down syndrome, chromosome 47.XX. 21+. Chromosomal pathology of a simple form is common - in 95% of cases of Down syndrome.
- Mosaic form - chromosomal pathology Down syndrome, chromosome 47. XY.21+/46. XY, occurs rarely, in 1% of cases of pathology.
- Translocation form - chromosomal pathology Down syndrome, chromosome 47.XX.t 21|15; and also 47.XY/t 21/21, occurs in approximately 4% of cases of this pathology. In the case of Robertsonian translocation, carriers of the genetic translocation may have a child with Down syndrome:
- 45.ХХ.t 21/15 (mother) – from 10 to 15%.
- 45.ХY.t 21/15 (father) – from 5 to 7%.
- 45.ХY.t 21/21 (either parent) – 100%.
Children with Down syndrome must undergo stimulation of the central nervous system - specific and nonspecific, surgical treatment, if indicated. Children with Down syndrome are usually very obedient and efficient. At proper education They can take care of themselves, take care of pets, read well, sing, and completely repeat the actions of an adult while performing work. Children with chromosomal pathology must undergo social rehabilitation to adapt to society, special training, and, upon reaching a certain age, feasible employment.
Chromosomal pathology - Y chromosome disomy syndrome
Y chromosome disomy syndrome was described relatively recently - in 1961. Disomy syndrome on the Y chromosome is karyotype 47. XYY, it is rare - one newborn baby per 1000. Children with disomy on the Y chromosome do not differ from their peers, and are most often taller than average. Adult men have an average height of about 186 cm. There are practically no differences with healthy people in sexual, mental and physical development, most men have normal hormonal status and fertility. In 35% of cases of pathology, there are signs characteristic of the disease: protruding brow ridges and the bridge of the nose, rough facial features, a large lower jaw, large ears, teeth have defects in the enamel covering them, deformation of the knee and elbow joints is very common. The disease is characterized by increased suggestibility of the patient, imitation; children with this syndrome quickly grasp the negative forms of behavior of their peers. Such patients are characterized by aggressive behavior, impulsiveness and explosiveness.
Chromosomal pathology – Patau syndrome
Children with chromosomal pathology Patau syndrome have multiple developmental defects. Patau syndrome – 47.ХХ.13+ and 46.ХY. t 13/15 is rare, one child in 6000 children on average. All children with this pathology have multiple developmental defects. In children who survived, in 100% of cases, mental retardation, craniofacial dysmorphia - narrow eyes, low-lying, irregular shape ears, low heavy forehead, cleft lip, palate.
Chromosomal pathology - Edwards syndrome
The risk of fetal chromosomal pathology Edwards syndrome is low, one child in 6,000 children on average. The pathology is accompanied by multiple developmental defects in all sick children. Patients have developmental defects of the heart, brain, lungs, intestines, skull and skeleton. Boys die after birth, girls mostly live to be one month old, and a very small percentage of girls can live to be one year old.
Chromosomal pathologies - Edwards and Patau are not inherited due to the fact that affected children do not survive to adulthood due to numerous developmental defects.
Chromosomal pathology – Shereshevsky-Turner syndrome
The risk of chromosomal pathology of the fetus - Shereshevsky-Turner syndrome is 1 in 3500. The karyotype of the disease is 45.X. The pathology is characterized by an anti-Mongoloid eye pattern; in 65% of cases, lymphatic edema of the feet, legs, and hands of a newborn baby occurs, which can manifest itself during the first months of the baby’s life. The pathology has pronounced signs - a short neck, which occurs in half of the cases of pathology, pterygoid folds (neck of the sphinx) from the back of the head to the shoulder girdle, occur in 65% of cases of the disease. All children with Shereshevsky-Turner syndrome short stature, barrel-shaped breasts with widely spaced nipples occur in 55% of cases. With karyotype 45.X, all sick children are diagnosed with sexual infantilism. The pathology is characterized by underdevelopment of the mammary glands, amenorrhea, and emotional poverty. The pathology is treated by stimulating the child’s growth, forming menstrual cycle with the help of hormonal therapy, surgical treatment and psychotherapeutic treatment are used according to indications.
Chromosomal pathology – Klinefelter syndrome
The risk of fetal chromosomal pathology - Klinefelter syndrome - is 1 in 600 on average. These are boys who later have tall stature, body type female type, gynecomastia in 100% of cases. Pathology karyotype – 47.XXY, 48.XXXY; 47. XYY; 48. XYYY; 49. XXXYY; 49. XXXXY.
People with this pathology are susceptible to suggestibility and emotional lability. They have Long hands, fingers, in 100% of cases microorchidism; during puberty, clear signs of pathology appear - there is practically no hair growth in the genital area, hyalinosis of the spermatic cords and degeneration of the epithelium, infertility. Patients are apathetic, lack initiative, prone to depressive psychosis, alcoholism, and antisocial behavior in society. In childhood, patients are asthenic; adults suffer from increased body weight.
Patients with Klinefelter syndrome and polysomy 47.XYY may look like absolutely healthy people, most patients have mental development close to normal or slightly reduced. Some patients are different aggressive behavior, have a good physique, well-developed muscles, and are tall. It has been noted that among recidivist criminals there are often patients with polysomy of this type.
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Head of
"Oncogenetics"
Zhusina
Yulia Gennadievna
Graduated from the Pediatric Faculty of Voronezh State Medical University. N.N. Burdenko in 2014.
2015 - internship in therapy at the Department of Faculty Therapy of VSMU named after. N.N. Burdenko.
2015 - certification course in the specialty “Hematology” at the Hematology Research Center in Moscow.
2015-2016 – therapist at VGKBSMP No. 1.
2016 - the topic of the dissertation for the degree of Candidate of Medical Sciences “study of the clinical course of the disease and prognosis in patients with chronic obstructive pulmonary disease with anemic syndrome” was approved. Co-author of more than 10 published works. Participant of scientific and practical conferences on genetics and oncology.
2017 - advanced training course on the topic: “interpretation of the results of genetic studies in patients with hereditary diseases.”
Since 2017, residency in the specialty “Genetics” on the basis of RMANPO.
Head of
"Genetics"
Kanivets
Ilya Vyacheslavovich
Kanivets Ilya Vyacheslavovich, geneticist, candidate of medical sciences, head of the genetics department of the medical genetic center Genomed. Assistant at the Department of Medical Genetics of the Russian Medical Academy of Continuing Professional Education.
He graduated from the Faculty of Medicine of the Moscow State Medical and Dental University in 2009, and in 2011 – a residency in the specialty “Genetics” at the Department of Medical Genetics of the same university. In 2017, he defended his dissertation for the scientific degree of Candidate of Medical Sciences on the topic: Molecular diagnostics of copy number variations of DNA sections (CNVs) in children with congenital malformations, phenotypic anomalies and/or mental retardation using high-density SNP oligonucleotide microarrays.”
From 2011-2017 he worked as a geneticist at the Children's Clinical Hospital named after. N.F. Filatov, scientific advisory department of the Federal State Budgetary Institution “Medical Genetic Research Center”. From 2014 to the present, he has been the head of the genetics department of the Genomed Medical Center.
Main areas of activity: diagnosis and management of patients with hereditary diseases and congenital malformations, epilepsy, medical and genetic counseling of families in which a child was born with hereditary pathology or developmental defects, prenatal diagnosis. During the consultation, clinical data and genealogy are analyzed to determine the clinical hypothesis and the necessary amount of genetic testing. Based on the results of the survey, the data are interpreted and the information received is explained to the consultants.
He is one of the founders of the “School of Genetics” project. Regularly gives presentations at conferences. Gives lectures for geneticists, neurologists and obstetricians-gynecologists, as well as for parents of patients with hereditary diseases. He is the author and co-author of more than 20 articles and reviews in Russian and foreign journals.
Area of professional interests is the implementation of modern genome-wide research into clinical practice and interpretation of their results.
Reception time: Wed, Fri 16-19
Head of
"Neurology"
Sharkov
Artem Alekseevich
Sharkov Artyom Alekseevich– neurologist, epileptologist
In 2012, he studied under the international program “Oriental medicine” at Daegu Haanu University in South Korea.
Since 2012 - participation in organizing the database and algorithm for interpreting genetic tests xGenCloud (http://www.xgencloud.com/, Project Manager - Igor Ugarov)
In 2013 he graduated from the Pediatric Faculty of the Russian National Research Medical University named after N.I. Pirogov.
From 2013 to 2015, he studied at a clinical residency in neurology at the Federal State Budgetary Institution "Scientific Center of Neurology".
Since 2015, he has been working as a neurologist and researcher at the Scientific Research Clinical Institute of Pediatrics named after Academician Yu.E. Veltishchev GBOU VPO RNIMU im. N.I. Pirogov. He also works as a neurologist and a doctor in the video-EEG monitoring laboratory at the clinics of the Center for Epileptology and Neurology named after. A.A. Kazaryan" and "Epilepsy Center".
In 2015, he completed training in Italy at the school “2nd International Residential Course on Drug Resistant Epilepsies, ILAE, 2015”.
In 2015, advanced training - “Clinical and molecular genetics for medical practitioners”, RDKB, RUSNANO.
In 2016, advanced training - “Fundamentals of molecular genetics” under the guidance of a bioinformatician, Ph.D. Konovalova F.A.
Since 2016 - head of the neurological direction of the Genomed laboratory.
In 2016, he completed training in Italy at the school “San Servolo international advanced course: Brain Exploration and Epilepsy Surger, ILAE, 2016”.
In 2016, advanced training - “Innovative genetic technologies for doctors”, “Institute of Laboratory Medicine”.
In 2017 – school “NGS in Medical Genetics 2017”, Moscow State Research Center
Currently conducting Scientific research in the field of genetics of epilepsy under the guidance of Professor, MD. Belousova E.D. and professor, doctor of medical sciences. Dadali E.L.
The topic of the dissertation for the degree of Candidate of Medical Sciences “Clinical and genetic characteristics of monogenic variants of early epileptic encephalopathies” has been approved.
The main areas of activity are the diagnosis and treatment of epilepsy in children and adults. Narrow specialization – surgical treatment of epilepsy, genetics of epilepsy. Neurogenetics.
Scientific publications
Sharkov A., Sharkova I., Golovteev A., Ugarov I. “Optimization of differential diagnosis and interpretation of genetic testing results using the XGenCloud expert system for some forms of epilepsy.” Medical Genetics, No. 4, 2015, p. 41.
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Sharkov A.A., Vorobyov A.N., Troitsky A.A., Savkina I.S., Dorofeeva M.Yu., Melikyan A.G., Golovteev A.L. "Epilepsy surgery for multifocal brain lesions in children with tuberous sclerosis." Abstracts of the XIV Russian Congress "INNOVATIVE TECHNOLOGIES IN PEDIATRICS AND CHILDREN'S SURGERY." Russian Bulletin of Perinatology and Pediatrics, 4, 2015. - p.226-227.
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Dadali E.L., Belousova E.D., Sharkov A.A. "Molecular genetic approaches to the diagnosis of monogenic idiopathic and symptomatic epilepsies." Thesis of the XIV Russian Congress "INNOVATIVE TECHNOLOGIES IN PEDIATRICS AND CHILDREN'S SURGERY." Russian Bulletin of Perinatology and Pediatrics, 4, 2015. - p.221.
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Sharkov A.A., Dadali E.L., Sharkova I.V. “A rare variant of early epileptic encephalopathy type 2 caused by mutations in the CDKL5 gene in a male patient.” Conference "Epileptology in the system of neurosciences". Collection of conference materials: / Edited by: prof. Neznanova N.G., prof. Mikhailova V.A. St. Petersburg: 2015. – p. 210-212.
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Dadali E.L., Sharkov A.A., Kanivets I.V., Gundorova P., Fominykh V.V., Sharkova I.V. Troitsky A.A., Golovteev A.L., Polyakov A.V. A new allelic variant of myoclonus epilepsy type 3, caused by mutations in the KCTD7 gene // Medical Genetics. - 2015. - Vol. 14. - No. 9. - p. 44-47
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Dadali E.L., Sharkova I.V., Sharkov A.A., Akimova I.A. "Clinical and genetic features and modern methods diagnosis of hereditary epilepsies". Collection of materials “Molecular biological technologies in medical practice” / Ed. Corresponding member RAIN A.B. Maslennikova.- Issue. 24.- Novosibirsk: Akademizdat, 2016.- 262: p. 52-63
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Belousova E.D., Dorofeeva M.Yu., Sharkov A.A. Epilepsy in tuberous sclerosis. In "Brain diseases, medical and social aspects"edited by Gusev E.I., Gekht A.B., Moscow; 2016; pp.391-399
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Dadali E.L., Sharkov A.A., Sharkova I.V., Kanivets I.V., Konovalov F.A., Akimova I.A. Hereditary diseases and syndromes accompanied by febrile seizures: clinical and genetic characteristics and diagnostic methods. //Russian Journal of Child Neurology.- T. 11.- No. 2, p. 33- 41. doi: 10.17650/ 2073-8803-2016-11-2-33-41
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Sharkov A.A., Konovalov F.A., Sharkova I.V., Belousova E.D., Dadali E.L. Molecular genetic approaches to the diagnosis of epileptic encephalopathies. Collection of abstracts “VI BALTIC CONGRESS ON CHILD NEUROLOGY” / Edited by Professor Guzeva V.I. St. Petersburg, 2016, p. 391
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Hemispherotomy for drug-resistant epilepsy in children with bilateral brain damage Zubkova N.S., Altunina G.E., Zemlyansky M.Yu., Troitsky A.A., Sharkov A.A., Golovteev A.L. Collection of abstracts “VI BALTIC CONGRESS ON CHILD NEUROLOGY” / Edited by Professor Guzeva V.I. St. Petersburg, 2016, p. 157.
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Article: Genetics and differentiated treatment of early epileptic encephalopathies. A.A. Sharkov*, I.V. Sharkova, E.D. Belousova, E.L. Yes they did. Journal of Neurology and Psychiatry, 9, 2016; Vol. 2doi: 10.17116/jnevro 20161169267-73
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Golovteev A.L., Sharkov A.A., Troitsky A.A., Altunina G.E., Zemlyansky M.Yu., Kopachev D.N., Dorofeeva M.Yu. " Surgery epilepsy in tuberous sclerosis" edited by Dorofeeva M.Yu., Moscow; 2017; p.274
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New international classifications of epilepsies and epileptic seizures of the International League Against Epilepsy. Journal of Neurology and Psychiatry. C.C. Korsakov. 2017. T. 117. No. 7. P. 99-106
Head of Department
"Genetics of predispositions"
biologist, genetic consultant
Dudurich
Vasilisa Valerievna
– head of the department “Genetics of predispositions”, biologist, genetic consultant
In 2010 – PR specialist, Far Eastern Institute of International Relations
In 2011 – Biologist, Far Eastern Federal University
In 2012 – Federal State Budgetary Institution Research Institute of Physics and Chemistry, FMBF of Russia “Gene diagnostics in modern medicine”
In 2012 – Study “Introduction of genetic testing into a general clinic”
In 2012 – Professional training “Prenatal diagnosis and genetic passport - the basis of preventive medicine in the age of nanotechnology” at the D.I. Ott Research Institute of AG, Northwestern Branch of the Russian Academy of Medical Sciences
In 2013 – Professional training “Genetics in clinical hemostasiology and hemorheology” at the Bakulev Scientific Center for Cardiovascular Surgery
In 2015 – Professional training within the framework of the VII Congress Russian society Medical geneticists
In 2016 – School of Data Analysis “NGS in Medical Practice” of the Federal State Budgetary Institution “MGSC”
In 2016 – Internship “Genetic counseling” at the Federal State Budgetary Institution “MGNC”
In 2016 – Participated in the International Congress on Human Genetics in Kyoto, Japan
From 2013-2016 – Head of the Medical Genetics Center in Khabarovsk
From 2015-2016 – teacher at the Department of Biology at the Far Eastern State Medical University
From 2016-2018 – Secretary of the Khabarovsk branch of the Russian Society of Medical Genetics
In 2018 – Participated in the seminar “Reproductive Potential of Russia: Versions and Counterversions” Sochi, Russia
Organizer of the school-seminar “The Age of Genetics and Bioinformatics: Interdisciplinary Approach in Science and Practice” - 2013, 2014, 2015, 2016.
Work experience as a genetic counselor – 7 years
Founder of the Queen Alexandra Charitable Foundation to help children with genetic pathology alixfond.ru
Areas of professional interests: myrobiome, multifactorial pathology, pharmacogenetics, nutrigenetics, reproductive genetics, epigenetics.
Head of
"Prenatal diagnosis"
Kyiv
Yulia Kirillovna
In 2011 she graduated from the Moscow State Medical and Dental University. A.I. Evdokimova with a degree in General Medicine. She studied residency at the Department of Medical Genetics of the same university with a degree in Genetics.
In 2015, she completed an internship in Obstetrics and Gynecology at the Medical Institute for Advanced Training of Physicians of the Federal State Budgetary Educational Institution of Higher Professional Education "MSUPP"
Since 2013, he has been conducting consultations at the State Budgetary Institution "Center for Family Planning and Reproduction" of the Department of Health.
Since 2017, he has been the head of the “Prenatal Diagnostics” direction of the Genomed laboratory
Regularly makes presentations at conferences and seminars. Gives lectures for doctors of various specialties in the field of reproduction and prenatal diagnostics
Provides medical and genetic counseling to pregnant women on prenatal diagnostics in order to prevent the birth of children with congenital malformations, as well as families with presumably hereditary or congenital pathologies. Interprets the obtained DNA diagnostic results.
SPECIALISTS
Latypov
Arthur Shamilevich
Latypov Artur Shamilevich is a geneticist doctor of the highest qualification category.
After graduating from the medical faculty of the Kazan State Medical Institute in 1976, he worked for many years, first as a doctor in the office of medical genetics, then as the head of the medical-genetic center of the Republican Hospital of Tatarstan, the chief specialist of the Ministry of Health of the Republic of Tatarstan, and as a teacher in the departments of the Kazan Medical University.
Author of more than 20 scientific papers on problems of reproductive and biochemical genetics, participant in many domestic and international congresses and conferences on problems of medical genetics. He introduced methods of mass screening of pregnant women and newborns for hereditary diseases into the practical work of the center, performed thousands of invasive procedures for suspected hereditary diseases of the fetus. different dates pregnancy.
Since 2012, she has been working at the Department of Medical Genetics with a course in prenatal diagnostics at the Russian Academy of Postgraduate Education.
Area of scientific interests: metabolic diseases in children, prenatal diagnostics.
Reception hours: Wed 12-15, Sat 10-14Doctors are seen by appointment.
Geneticist
Gabelko
Denis Igorevich
In 2009 he graduated from the Faculty of Medicine of KSMU named after. S. V. Kurashova (specialty “General Medicine”).
Internship at the St. Petersburg Medical Academy of Postgraduate Education of the Federal Agency for Healthcare and social development(specialty "Genetics").
Internship in Therapy. Primary retraining in the specialty " Ultrasound diagnostics" Since 2016, he has been an employee of the department of the Department of Fundamental Principles of Clinical Medicine of the Institute of Fundamental Medicine and Biology.
Area of professional interests: prenatal diagnosis, the use of modern screening and diagnostic methods to identify genetic pathology of the fetus. Determining the risk of recurrence of hereditary diseases in the family.
Participant of scientific and practical conferences on genetics and obstetrics and gynecology.
Work experience 5 years.
Consultation by appointmentDoctors are seen by appointment.
Geneticist
Grishina
Kristina Alexandrovna
She graduated from the Moscow State Medical and Dental University in 2015 with a degree in General Medicine. In the same year, she entered residency in the specialty 08/30/30 “Genetics” at the Federal State Budgetary Institution “Medical Genetic Research Center”.
She was hired at the Laboratory of Molecular Genetics of Complexly Inherited Diseases (headed by Dr. A.V. Karpukhin) in March 2015 as a research assistant. Since September 2015, she has been transferred to the position of research assistant. He is the author and co-author of more than 10 articles and abstracts on clinical genetics, oncogenetics and molecular oncology in Russian and foreign journals. Regular participant in conferences on medical genetics.
Area of scientific and practical interests: medical and genetic counseling of patients with hereditary syndromic and multifactorial pathology.
A consultation with a geneticist allows you to answer the following questions:
Are the child’s symptoms signs of a hereditary disease?
what research is needed to identify the cause
determining an accurate forecast
recommendations for conducting and evaluating the results of prenatal diagnostics
everything you need to know when planning a family
consultation when planning IVF
on-site and online consultations
Geneticist
Gorgisheli
Ketevan Vazhaevna
She is a graduate of the medical and biological faculty of the Russian National Research Medical University named after N.I. Pirogov 2015, defended thesis on the topic “Clinical and morphological correlation of vital indicators of the body’s condition and morphofunctional characteristics of blood mononuclear cells in severe poisoning.” She completed clinical residency in the specialty “Genetics” at the Department of Molecular and Cellular Genetics of the above-mentioned university.
took part in the scientific and practical school "Innovative genetic technologies for doctors: application in clinical practice", the conference of the European Society of Human Genetics (ESHG) and other conferences dedicated to human genetics.
Conducts medical and genetic counseling for families with suspected hereditary or congenital pathologies, including monogenic diseases and chromosomal abnormalities, determines indications for laboratory genetic studies, and interprets the results of DNA diagnostics. Consults pregnant women on prenatal diagnostics to prevent the birth of children with congenital malformations.
Geneticist, obstetrician-gynecologist, candidate of medical sciences
Kudryavtseva
Elena Vladimirovna
Geneticist, obstetrician-gynecologist, candidate of medical sciences.
Specialist in the field of reproductive counseling and hereditary pathology.
Graduated from the Ural State Medical Academy in 2005.
Residency in Obstetrics and Gynecology
Internship in the specialty "Genetics"
Professional retraining in the specialty “Ultrasound diagnostics”
Activities:
- Infertility and miscarriage Vasilisa Yurievna
She is a graduate of the Nizhny Novgorod State Medical Academy, Faculty of Medicine (specialty “General Medicine”). She graduated from clinical residency at FBGNU "MGNC" with a degree in Genetics. In 2014, she completed an internship at the Maternity and Childhood Clinic (IRCCS materno infantile Burlo Garofolo, Trieste, Italy).
Since 2016, he has been working as a consultant physician at Genomed LLC.
Regularly participates in scientific and practical conferences on genetics.
Main activities: Consulting on clinical and laboratory diagnostics genetic diseases and interpretation of results. Management of patients and their families with suspected hereditary pathology. Consulting when planning pregnancy, as well as during pregnancy, on prenatal diagnostics in order to prevent the birth of children with congenital pathologies.
From 2013 to 2014, she worked as a junior researcher at the Laboratory of Molecular Oncology at the Rostov Cancer Research Institute.
In 2013 - advanced training " Current issues clinical genetics", GBOU VPO Growth of the State Medical University of the Ministry of Health of Russia.
In 2014 - advanced training “Application of the real-time PCR method for gene diagnostics of somatic mutations”, Federal Budgetary Institution “Central Research Institute of Epidemiology of Rospotrebnadzor”.
Since 2014 – geneticist at the laboratory of medical genetics at Rostov State Medical University.
In 2015, she successfully confirmed her qualification as a Medical Laboratory Scientist. He is a current member of the Australian Institute of Medical Scientist.
In 2017 - advanced training “Interpretation of the results of genetic studies in patients with hereditary diseases”, NOCHUDPO “ The educational center on continuing medical and pharmaceutical education";
“Current issues of clinical laboratory diagnostics and laboratory genetics”, Rostov State Medical University of the Ministry of Health of Russia; advanced training "BRCA Liverpool Genetic Counseling Course", Liverpool University.
Regularly participates in scientific conferences, is the author and co-author of more than 20 scientific publications in domestic and foreign publications.
Main activity: clinical and laboratory interpretation of DNA diagnostic results, chromosomal microarray analysis, NGS.
Areas of interest: application of the latest genome-wide diagnostic methods in clinical practice, oncogenetics. Anomalies of the chromosome set are developmental disorders of the body caused by altered hereditary information. Nature tries with all its might to get rid of the deviations that arise on its own, for example, a rapid spontaneous termination of pregnancy occurs - a miscarriage. However, in some cases, infants with developmental abnormalities survive. And the later the altered hereditary information begins to take effect, the higher this possibility is. With some disorders caused by a fetal chromosomal abnormality (for example, fused fingers or toes, fewer or more fingers), people can lead a normal life. Some hereditary abnormalities can be corrected, for example, hip dysplasia, congenital hip dislocation, congenital abnormalities of the limbs, etc. As a result of changes in hereditary structures, defects in various organs are possible, for example, birth defects
hearts, cleft lip or cleft palate.
Disorders caused by chromosomal abnormalities are hereditary, therefore, without medical care they will last a lifetime. The disorder can also be inherited by the patients' children.
Some violations are very dangerous, others are not. For example, congenital cleft palate, clubfoot, fused fingers or toes, more or fewer fingers or toes usually do not interfere with a normal lifestyle. However, if the internal organs are abnormal, the course of the disease is unfavorable. Often the life expectancy of people with this congenital anomaly is much shorter than the average life expectancy. Often chromosomal diseases are accompanied by mental disorders, blindness, and deafness. Severe deformities mean that the life of such a person from childhood will be very difficult, difficulties will arise with social adaptation and etc.
Treatment
Medicines won't help here. Often the only solution is surgery (many birth defects can be corrected by surgery). After surgery it is sometimes indicated physiotherapy. Families with children with complex pathologies are provided with psychotherapeutic and social assistance.
Disorders caused by chromosomal abnormalities are usually diagnosed immediately after the birth of the child. In some cases (for example, with congenital heart defects), the baby requires urgent surgery. In other cases, operations are performed later, taking into account the condition, defect and age of the child. If the disorder cannot be identified in the maternity hospital, the doctor will determine this during preventive examinations. The earlier a congenital anomaly is detected, the greater the chances of successful correction and recovery of the patient.
Is it possible to avoid such anomalies?
These birth defects cannot be predicted in advance. They always appear as a result of mutation. The risk of mutations increases as a person ages; they are more likely to occur in members of the same family. If in doubt, partners wishing to have children should consult a geneticist.
Not every deformity is hereditary. It can occur under the influence of other factors (medicines).
