Each pregnant woman decides for herself the complex ethical question of whether it is worth conducting an examination to identify genetic pathologies of the unborn baby. In any case, it is important to have all the information about modern diagnostic capabilities.
Yulia SHATOKHA, Candidate of Medical Sciences, Head of the Department of Prenatal Ultrasound Diagnostics at the Ultrasound Studio Network of Medical Centers, spoke about what invasive and non-invasive methods of prenatal diagnosis exist today, how informative and safe they are, and in what cases they are used.
Why is prenatal diagnosis needed?
Helps predict possible genetic pathologies during pregnancy various methods. First of all, this ultrasonography(screening), with which the doctor can notice abnormalities in the development of the fetus.
The second stage of prenatal screening during pregnancy is biochemical screening (blood test). These tests, also known as “double” and “triple” tests, are taken by every pregnant woman today. It allows you to predict with some degree of accuracy the risk of fetal chromosomal abnormalities.
” It is impossible to make an accurate diagnosis based on such an analysis; this requires chromosomal studies - more complex and expensive.
Chromosomal studies are not mandatory for all pregnant women, but there are certain indications:
future parents are close relatives;
expectant mother over 35 years old;
the presence in the family of children with chromosomal pathology;
miscarriages or missed pregnancies in the past;
diseases potentially dangerous to the fetus suffered during pregnancy;
shortly before conception, one of the parents was exposed to ionizing radiation (X-rays, radiation therapy);
risks identified by ultrasound.
Expert opinion
The statistical probability of having a child with a chromosomal disorder is from 0.4 to 0.7%. But it must be borne in mind that this is a risk in the population as a whole; for individual pregnant women it can be extremely high: the basic risk depends on age, nationality and various social parameters. For example, the risk of chromosomal abnormalities in a healthy pregnant woman increases with age. In addition, there is, and then there is an individual risk, which is determined on the basis of biochemical and ultrasound data.
"Double" and "triple" tests
Biochemical screenings also known as , and in common parlance referred to as "test for Down syndrome" or "test for deformities", carried out strictly certain deadlines pregnancy.
Double test
A double test is done at 10-13 weeks of pregnancy. During this blood test, they look at the following indicators:
free hCG (human chorionic gonadotropin),
PAPPA (plasma protein A, inhibitor A).
The analysis should be done only after an ultrasound scan, the data of which is also used when calculating risks.
The specialist will need the following data from the ultrasound report: date of ultrasound, coccyx-parietal size(KTR), biparietal size (BPR), nuchal translucency thickness (TN).
Triple test
The second, a “triple” (or “quadruple”) test, is recommended for pregnant women to take at 16-18 weeks.
This test examines the following indicators:
alpha fetoprotein (AFP);
free estriol;
inhibin A (in case of quadruple test)
Based on the analysis of data from the first and second biochemical screening and ultrasound, doctors calculate the likelihood of such chromosomal abnormalities as:
Down syndrome;
Edwards syndrome;
neural tube defects;
Patau syndrome;
Turner syndrome;
Cornelia de Lange syndrome;
Smith Lemli Opitz syndrome;
triploidy.
Expert opinion
Double or triple test biochemical tests, which determine the concentration in the mother’s blood of certain substances characterizing the condition of the fetus.
How are the risks of chromosomal abnormalities calculated?
The results of biochemical screening, in addition to possible chromosomal pathologies, are influenced by many factors, especially age and weight. To determine statistically reliable results, a database was created in which women were divided into groups by age and body weight and the average values of the “double” and “triple” tests were calculated.
The average result for each hormone (MoM) became the basis for determining the normal limit. So, if the result obtained when divided by MoM is 0.5-2.5 units, then the hormone level is considered normal. If less than 0.5 MoM - low, above 2.5 - high.
What level of risk of chromosomal abnormalities is considered high?
In the final conclusion, the risk for each pathology is indicated as a fraction.
A risk of 1:380 and above is considered high.
Average - 1:1000 and below - this is a normal indicator.
A risk of 1:10,000 or less is considered very low.
This figure means that out of 10 thousand pregnant women with such a level, for example, hCG, only one had a child with Down syndrome.
Expert opinion
A risk of 1:100 or higher is an indication for diagnosing chromosomal pathology of the fetus, but each woman determines the degree of criticality of these results for herself. To some, a probability of 1:1000 may seem critical.
Accuracy of biochemical screening in pregnant women
Many pregnant women are wary and skeptical about biochemical screening. And this is not surprising - this test does not provide any accurate information; on its basis, one can only assume the likelihood of the existence of chromosomal abnormalities.
In addition, the information content of biochemical screening may be reduced if:
pregnancy occurred as a result of IVF;
at the expectant mother's diabetes;
multiple pregnancy;
the expectant mother has excess weight or lack thereof
Expert opinion
As an isolated study, double and triple tests have little prognostic value; when taking into account ultrasound data, the reliability increases to 60-70%, and only when conducting genetic tests the result will be 99% accurate. We are talking only about chromosomal abnormalities. If we are talking about a congenital pathology not associated with chromosome defects (for example, “cleft lip” or congenital heart and brain defects), then here reliable result Provide professional ultrasound diagnostics.
Genetic tests for suspected chromosomal abnormalities
Based on the ultrasound conclusion or if the results of biochemical screening are unfavorable, the geneticist may suggest that the expectant mother undergo . Depending on the period, this may be a chorionic villus or placenta biopsy, amniocentesis or cordocentesis. Such a study gives highly accurate results, but in 0.5% of cases such an intervention can cause a miscarriage.
Material collection for genetic research is carried out under local anesthesia and ultrasound control. The doctor uses a thin needle to puncture the uterus and carefully remove genetic material. Depending on the stage of pregnancy, this may be particles of chorionic villi or placenta (chorionic or placental biopsy), amniotic fluid (amniocentesis) or blood from the umbilical vein (cordocentesis).
The resulting genetic material is sent for analysis, which will determine or exclude the presence of many chromosomal abnormalities: Down syndrome, Patau syndrome, Edwards syndrome, Turner syndrome (accuracy - 99%) and Klinefelter syndrome (accuracy - 98%).
” Four years ago, an alternative to this method of genetic research appeared - a non-invasive prenatal genetic test. This study does not require obtaining genetic material - it is enough to take blood from a vein for analysis expectant mother. The method is based on the analysis of DNA fragments of the fetus, which, during the renewal of its cells, enter the bloodstream of the pregnant woman.
This test can be done starting from the 10th week of pregnancy. It is important to understand that this test is not yet widespread in Russia, very few clinics do it, and not all doctors take its results into account. Therefore, you need to be prepared for the fact that the doctor may strongly recommend an invasive examination in case of high risks based on ultrasound or biochemical screening. Be that as it may, the decision always remains with the future parents.
In our city, non-invasive prenatal genetic tests are performed at the following clinics:
"Avicenna". Panorama test. Non-invasive prenatal genetic diagnosis of aneuploidy 42 t.r. Non-invasive prenatal genetic diagnosis of aneuploidies and microdeletions - 52 rub.
"Almita". Panorama test. Cost from 40 to 54 tr. depending on the completeness of the study.
"Ultrasound studio" Prenetix test. Cost 38 tr.
Expert opinion
Only chromosomal analysis can confirm or exclude chromosomal pathology. Ultrasound and biochemical screening can only calculate the magnitude of the risk. Analysis for pathologies such as Down syndrome, Edwards syndrome and Patau syndrome can be carried out from 10 weeks of pregnancy. This is done by obtaining fetal DNA directly from the structures ovum(direct invasive method). The risk arising from invasive intervention, in the presence of direct indications, is guaranteed to be lower than the risk of chromosomal pathology (approximately 0.2-0.5% according to various authors).
In addition, today any pregnant woman can, at her own request, be examined for the presence of major genetic diseases in the fetus using a direct non-invasive method. To do this, you just need to donate blood from a vein. The method is absolutely safe for the fetus, but is quite expensive, which limits its widespread use.
Difficult decision
Each woman decides for herself the question of whether diagnosis of genetic diseases is necessary during pregnancy and what to do with the information obtained as a result of research. It is important to understand that doctors do not have the right to put pressure on a pregnant woman in this matter.
Expert opinion
When the pregnancy is up to 12 weeks, a woman can decide for herself whether to terminate the pregnancy if any pathology of the fetus is detected. In more late dates for this, compelling reasons are needed: pathological conditions incompatible with the life of the fetus and diseases that will subsequently lead to profound disability or death of the newborn. In each specific case, this issue is resolved taking into account the duration of pregnancy and the prognosis for the life and health of the fetus and the pregnant woman herself.
There are two reasons why doctors may recommend terminating a pregnancy:
developmental defects in the fetus that are incompatible with life or with the prognosis of profound disability of the child have been identified;
a condition of the mother in which prolongation of pregnancy can cause an unfavorable course of the disease with a threat to the life of the mother.
Prenatal diagnosis- be it biochemical, ultrasound or genetic research, is not mandatory. Some parents want to have the most complete information, while others prefer to limit themselves to a minimum set of examinations, trusting nature. And every choice is worthy of respect.
I really want to find those who experienced this and hear how it all ended for them - this is the only thing that will help me not go crazy now.
I am 26, I have a daughter who is almost 4 years old. Second pregnancy - 17 weeks. From 12 weeks my life became hell as soon as I had my first ultrasound. It took place in our perinatal center.
It showed an increase in the collar space - 2.3 mm, dilated pelvis, heart rate - 173 beats/min and bladder - 6 mm. I donated blood and according to their program everything turned out fine. They put the risk of megacystic due to Bladder and offered a referral for an abortion while it was still possible in terms of timing. I refused and was scheduled for a repeat ultrasound in a week.
I couldn’t stand it and went to a paid clinic the day before the next ultrasound - they removed the suspicion of a megacystic, because the urinary tract was 2 mm - the baby peed, but the collar space increased - 2.8 mm. We found a hyperechoic focus in the heart.
The next day, the perinatal ultrasound revealed exactly the same thing. A repeat ultrasound was scheduled in 3 weeks.
Yesterday I had an ultrasound. Heartbeat - 167 beats/min, hyperechoic focus in the heart, slightly dilated pelvis, but above normal, and choroid plexus cysts up to 3.9 mm. A local geneticist insists that all these are minor markers of chromosomal abnormalities of the fetus. It was suggested to do invasive diagnostics amniotic fluid for 5 types of abnormalities, but it was also stipulated that most likely this analysis will not show positive results, because according to the signs there is no severe anomaly, but points indicate that there are still violations and they can manifest themselves when the child grows up and is unable, for example, to crawl or walk, he may have problems that will later be discovered by a neurologist or pediatrician. And that this can no longer be cured. Sends me to Moscow to see a geneticist for more advanced diagnostics. And this means time, risks and a lot of money. And with your head you understand that you will have one of 3 results in your hands: 1) the child is healthy and this is good; 2) the child has a serious pathology and the pregnancy must be terminated so as not to live in hospitals, leaving the eldest daughter without a mother; 3) there is a certain set of deviations (to be honest, I don’t even know which ones) with which we will sit and, as now, not know what to do. They gave me 2 weeks to think and act - then everything will become useless.
Do you know what’s drilling into my head the most: I have a daughter with similar abnormalities, as they have just found in the baby - she was born with dilated pelvis and she has a slight arrhythmia. She is an absolutely healthy child and we are simply observing her characteristics with specialists in order to track her dynamics (positive, by the way). But the trouble is that 4 years ago there was no such technology and all these screenings, and by all indicators my daughter was healthy (normal). Therefore, all these coincidences are just speculation.
And I don't even know what to do...
Chromosomal pathology is a disturbance in the 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 amniotic fluid is collected for laboratory testing. 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, and there is also excess skin on the back of the head. These signs of pathology occur in 80% of cases of Down syndrome, in 60% of cases dysplastic ears are noted, short fingers, narrow palate. In a child with Down syndrome, the shape of the teeth changes - they take on the appearance of sharp fangs, the appearance of the tongue changes - the tongue resembles a geographical relief, it is given the name “geographic tongue”. 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 should undergo central stimulation 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 from 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 are short in 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 psychoses, 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 distinguished by aggressive behavior, have a good physique, 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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The presence of ideal tests and the wonderful well-being of the pregnant woman, her young age and an impeccable medical history (information about previous diseases, living conditions, surgery, injuries, chronic pathology, heredity, etc.) are not a 100% guarantee that the child does not have chromosomal abnormalities.
Chromosomal abnormalities of the fetus. Signs
Signs of the presence of a chromosomal abnormality (CA) of the fetus during pregnancy:
- threat of miscarriage or at least nagging pain lower abdomen from early pregnancy and throughout pregnancy,
- low levels of AFP and PAPP-A and increased hCG during pregnancy,
- fetal cervical fold more than 2 mm at term,
- low fetal activity (movements),
- enlargement of the renal pelvis according to ultrasound during pregnancy,
- delayed growth of tubular bones, starting from,
- early aging of the placenta,
- hypoplasia of the placenta,
- fetal hypoxia,
- poor Doppler and CTG indicators,
- oligohydramnios/polyhydramnios.
Each of these signs individually and even all together can be variants of the norm.
Diagnostics of CA
Of the usual tests, the most informative is the first screening or double test. It must be done strictly on time. It consists of an ultrasound of the fetus (measurement of the neck crease is especially important) and a blood test for AFP, PAPP-A and hCG.
The analysis does not give an exact answer to the question of the presence or absence of CA. Its task is to calculate risks depending on the results, as well as the age and medical history of the pregnant woman. The second screening, the so-called “triple test”, is not informative for identifying CA. You can find out for sure whether your unborn child has CA only with the help of invasive methods- chorionic villus biopsy, cord blood sampling, analysis amniotic fluid. The purpose of these tests is to determine the karyotype of the fetus. Accuracy - 98%. The risk of miscarriage is 1-2%. CA cannot be treated. After CA is identified, all that medicine can offer is termination of pregnancy.
Should I do this analysis or not?
When making a decision, you need to answer the following questions:
- Doesn't the risk of miscarriage exceed the risk of having CA in the fetus?
- will you terminate the pregnancy if CA is detected?
- What kind of CA do doctors suspect, what is the prognosis for the child’s health?
- Are you ready for the birth of a child with CA?
Causes of chromosomal abnormalities
There are no clear causes of CA. There is an increased risk if:
- the age of the mother and father exceeds 35 years,
- blood relatives have CA,
- there is a balanced translocation in blood relatives or parents,
- parents work for hazardous industries, the family lives in an environmentally unfavorable area.
Mechanism of occurrence of CA
CA occurs in the fetus at the moment of formation of the zygote, i.e. during the fusion of egg and sperm. The mother and father cells each carry 23 chromosomes (23 from mom and 23 from dad). Both cells may already carry “broken” chromosomes (even if mom and dad are absolutely healthy). A failure can also occur at the moment of fusion of two absolutely healthy parent cells. In this case, the chromosomes of the fetus “diverge” incorrectly. This process has not yet been studied and cannot be controlled.
CA - chromosomal syndromes
More than 300 chromosomal syndromes have been studied and described.
Considering that humans have 23 paired chromosomes and there are several types of aberrations, the number of chromosomal syndromes that are not described in the literature and that arise again is not limited.
Aberrations can be different: complete and partial trisomies, deletions, monosomies, translocation mosaicism, etc. The severity of symptoms in chromosomal syndrome depends on the type of aberration. The most favorable type is a balanced translocation. People with such changes are no different from ordinary people; their peculiarity can only be identified by karyotyping, but they have an increased risk of having children with chromosomal syndromes - from 10 to 50% (the average risk in the population is 5%).
The next least “traumatic” type of aberration is mosaicism, in which a chromosomal disorder does not manifest itself in all cells and/or organs. Partial trisomies and deletions already cause significant developmental defects, sometimes incompatible with life.
The most severe type is complete trisomy or monosomy of the chromosome.
Most pregnancies with chromosomal pathology of the fetus are rejected by the body itself at the earliest early stages or at a period of 20-23 weeks, since with chromosomal pathology of the fetus, there is a high probability of various pregnancy pathologies (miscarriage, threat of miscarriage, uterine hypertonicity, premature aging placenta, toxicosis, gestosis, fetal hypoxia, etc.). Also, many babies do not live to see a year due to multiple developmental defects. The average life expectancy of people with CA is 30 years, but there are described cases of patients with CA who have lived to 60 years or more.
Development of people with CA
People with chromosomal syndromes can be both severely disabled and absolutely full-fledged members of society who have received a full education and have regular work. It all depends on the type of aberration, general condition the body and work of relatives and friends. In most cases, people with chromosomal syndromes can take care of themselves, communicate, and do feasible work. Reduced intelligence, yes chronic diseases organs and systems of the body.
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 Genetics" science Center" From 2014 to the present, he has been heading 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, Doctor of Medical Sciences. 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 of Scientific 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 of the Russian Society of Medical Genetics
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 various specialist doctors 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, 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. Pirogova in 2015, defended her 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 European Society of Human Genetics (ESHG) conference 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 areas of activity: 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 research in patients with hereditary diseases”, NOCHUDPO “Training Center for 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.