According to statistics, miscarriage is recorded in 10-25% of pregnant women.

Miscarriage can be caused by various diseases that are difficult to cure or have become chronic. However, these diseases do not belong to the genital area. An important feature of this kind of pathology is the unpredictability of the process, since for each particular pregnancy it is difficult to determine the true cause of the abortion. After all, at the same time, a variety of factors that can act hidden or explicitly affect the body of a pregnant woman. The outcome of pregnancy in the case of habitual miscarriage is largely determined by the therapy. With three or more spontaneous miscarriages during pregnancy up to 20 weeks of pregnancy, the obstetrician-gynecologist diagnoses the usual miscarriage. This pathology occurs in 1% of all pregnant women.

After the fertilized egg has “settled” in the uterine cavity, the complex process of its engraftment begins there - implantation. A future baby first develops from a fetal egg, then becomes an embryo, then it is called a fetus that grows and develops during pregnancy. Unfortunately, at any stage of bearing a child, a woman may encounter such a pathology of pregnancy as her miscarriage.

Miscarriage is the termination of pregnancy from the time of conception to the 37th week.

The risk of primary miscarriage

Doctors note a certain kind of pattern: the risk of spontaneous abortion after two failures rises by 24%, after three it makes 30%, after four it makes 40%.

When miscarriage occurs, a complete or incomplete (the fetal egg exfoliates from the uterine wall, but remains in its cavity and does not come out) miscarriages in the period up to 22 weeks. At a later date, in the period of 22-37 weeks, spontaneous abortion is called premature birth, while an immature, but viable baby is born. Its weight ranges from 500 to 2500 g. Premature, prematurely born children are immature. Their death is often noted. In surviving children, malformations are often recorded. The concept of prematurity, in addition to the short period of development of pregnancy, includes low fetal body weight at birth, an average of 500 to 2500 g, as well as signs of physical immaturity in the fetus. Only by a combination of these three signs of the newborn can be considered premature.

With the development of miscarriage, certain risk factors are indicated.

Modern medical advances and new technologies, timeliness and quality of medical care help to avoid serious complications and prevent premature termination of pregnancy.

A woman with miscarriage in the first trimester should undergo a lengthy examination before the alleged pregnancy and during pregnancy to identify the true cause of miscarriage. A very difficult situation develops with spontaneous miscarriage against the background of the normal course of pregnancy. In such cases, a woman and her doctor can do nothing to prevent such a course of events.

The most common factor in the development of premature termination of pregnancy are fetal chromosomal abnormalities. Chromosomes are microscopic oblong structures located in the internal structure of cells. Chromosomes contain genetic material that defines all the properties that are characteristic of each person: a person’s eyes, hair color, height, weight, etc. The structure of a person’s genetic code contains 23 pairs of chromosomes, 46 in total, one part being inherited from the mother organism, and the second - from the paternal. Two chromosomes in each set are called sex and determine the sex of the person (XX chromosomes determine the female sex, XY-x chromosomes - the male sex), while the other chromosomes carry the rest of the genetic information about the whole organism and are called somatic.

It was found that about 70% of all miscarriages in early pregnancy are due to abnormalities of the somatic chromosomes in the fetus, while most of the chromosomal abnormalities of the developing fetus occurred due to the participation of a defective egg or sperm in the fertilization process. This is due to the biological process of division, when the egg and sperm cells during their preliminary maturation divide to form mature germ cells in which the set of chromosomes is 23. In other cases, eggs or sperm cells with insufficient (22) or with excess (24) set are formed chromosomes. In such cases, the formed embryo will develop with a chromosomal abnormality, which leads to a miscarriage.

Trisomy can be considered the most common chromosomal defect, and the embryo is formed when the germ cell fuses with chromosome set 24, as a result of which the set of fetal chromosomes is not 46 (23 + 23), as it should be normal, but 47 (24 + 23) chromosomes . Most trisomies involving somatic chromosomes lead to the development of the fetus with malformations incompatible with life, which is why a miscarriage occurs in the early stages of pregnancy. In rare cases, a fetus with a similar developmental anomaly survives to a long time.

As an example of the most famous developmental anomaly due to trisomy, one can cite Down's disease (represented by trisomy on the 21st chromosome).

A large role in the occurrence of chromosomal abnormalities is played by the age of the woman. And recent studies show that the age of the father plays a no less important role, the risk of genetic abnormalities increases with the age of the father over 40 years.
As a solution to this problem, married couples, where at least one partner is diagnosed with congenital genetic diseases, are offered mandatory consultation with a geneticist. In certain cases, it is proposed to perform IVF (in vitro fertilization - in vitro fertilization) with a donor egg or sperm, which directly depends on which of the partners revealed such chromosomal abnormalities.

Reasons for primary miscarriage

The causes of such violations can be many. The process of conception and bearing a baby is complex and fragile, it involves a large number of interrelated factors, one of which is endocrine (hormonal). The female body supports a certain hormonal background so that the baby can develop correctly at each stage of its intrauterine development. If for some reason the body of the future mother begins to produce hormones incorrectly, then hormonal imbalances cause the threat of termination of pregnancy.

Never take hormones on your own. Their intake can seriously disrupt the reproductive function.

The following congenital or acquired during the life of uterine lesions can threaten the course of pregnancy.

• Anatomical malformations of the uterus - doubling of the uterus, saddle-shaped uterus, two-horned uterus, one-horned uterus, partial or complete uterine septum in the cavity - are congenital. Most often, they prevent the fetal egg from successfully implanting (for example, the egg "sits" on the septum, which is not able to perform the functions of the inner layer of the uterus), which is why a miscarriage occurs.
• Chronic endometritis is an inflammation of the uterine mucosa - the endometrium. As you remember from the section that provides information on the anatomy and physiology of women, the endometrium has an important reproductive function, but only as long as it is “healthy”. Prolonged inflammation changes the nature of the mucous layer and violates its functionality. It will not be easy to attach and normally grow and develop the fetal egg on such an endometrium, which can lead to loss of pregnancy.
• Endometrial polyps and hyperplasia - the growth of the mucous membrane of the uterine cavity - the endometrium. Such a pathology may also interfere with implantation of the embryo.
• Intrauterine synechiae are fusions between the walls in the uterine cavity that prevent the fertilized egg from moving, implanting and developing. Synechiae most often occurs as a result of mechanical injuries of the uterine cavity or inflammatory diseases.
• Uterine fibroids are benign tumor processes that occur in the muscle layer of the uterus - myometrium. Myomas can cause miscarriage if the fetal egg was implanted next to the myomatous node, which violated the tissue of the uterine cavity, “takes over” the bloodstream and can grow towards the fetal egg.
• Isthmic-cervical insufficiency. She is considered the most common cause of perinatal loss of the second trimester of pregnancy (13-20%). The cervix is \u200b\u200bshortened with subsequent disclosure, which leads to loss of pregnancy. Typically, isthmic-cervical insufficiency occurs in women whose cervix has been damaged earlier (abortion, delivery gap, etc.), has a congenital malformation or cannot cope with increased stress during pregnancy (large fetus, polyhydramnios, multiple pregnancy, etc.). P.).

Some women have a congenital predisposition to thrombosis (blood clotting, blood clots in the vessels), which makes it difficult to implant a fetal egg and interferes with normal blood flow between the placenta, the baby and the mother.

A future mother often does not know about her pathology before pregnancy, since her hemostasis system completely coped with her functions before pregnancy, that is, without the “double” load that appears with the task of carrying a baby.

There are other causes of miscarriage, which must be diagnosed for timely prevention and treatment. Correction methods will depend on the identified cause.

Normal chromosomes, which do not give problems during the development of both partners, can be the cause of habitual miscarriage, however, they carry a hidden carrier of chromosomal abnormalities that affect fetal developmental abnormalities. In such a situation, both parents must perform a karyotype examination of their blood in order to identify such chromosomal abnormalities (carriage of undetected chromosomal abnormalities). In this examination, the probable assessment of the course of subsequent pregnancy is determined by the results of karyotyping, and the examination cannot provide a 100% guarantee of possible anomalies.

Chromosomal abnormalities are diverse, they can also be the cause of an undeveloped pregnancy. In this case, only fetal membranes are formed, while the fetus itself may not be. It is noted that the ovum is either formed initially, or in the early stages it stopped its further development. For this, in the early stages, the termination of the characteristic symptoms of pregnancy is characteristic, at the same time, dark brown vaginal discharge often appears. An ultrasound can reliably determine the absence of a fetal egg.

Miscarriage in the second trimester of pregnancy is mainly associated with abnormalities in the structure of the uterus (such as an irregular shape of the uterus, an additional uterine horn, its saddle shape, the presence of a septum, or a weakening of the holding capacity of the cervix, the opening of which leads to premature birth). In this case, possible causes of miscarriage in the later stages may be infection of the mother (inflammatory diseases of the appendages and uterus) or chromosomal abnormalities of the fetus. According to statistics, the cause of miscarriage in the second trimester of pregnancy in 20% of cases are chromosomal abnormalities.

Symptoms and signs of primary miscarriage

A characteristic symptom in miscarriage is bleeding. Bloody discharge from the vagina with spontaneous miscarriage usually begins suddenly. In some cases, a miscarriage is preceded by pulling pain in the lower abdomen, which resembles pain before menstruation. Along with the release of blood from the genital tract with the onset of spontaneous miscarriage, the following symptoms are often observed: general weakness, malaise, fever, decrease in nausea present before, emotional tension.

But not all cases of spotting in the early stages of pregnancy end in spontaneous miscarriage. In case of vaginal discharge, a woman needs to see a doctor. Only a doctor will be able to conduct a proper examination, determine the condition of the fetus, find out if there is an opening of the cervix and choose the right treatment to preserve the pregnancy.

If bloody discharge from the genital tract is detected in a hospital, vaginal examination is performed first. If the first miscarriage occurred in the first trimester of pregnancy, then the study is shallow. In the event of a miscarriage in the second trimester or two or more spontaneous abortions in the first trimester of pregnancy, a full examination is necessary.

The course of a full examination includes a certain set of examinations:

1. blood tests for chromosomal abnormalities in both parents (clarification of the karyotype) and determination of hormonal and immunological changes in the blood of the mother;
2. a test for chromosomal abnormalities of aborted tissues (it is possible to determine if these tissues are available - either the woman herself saved them, or they were removed after curettage of the uterus in a hospital);
3. ultrasound examination of the uterus and hysteroscopy (examination of the uterine cavity using a video camera that is inserted through the cervix and displays a picture on the screen);
4. hysterosalpingography (x-ray examination of the uterus;
5. endometrial (inner layer) biopsy of the uterus. This manipulation involves taking a small piece of the uterine mucosa, after which a hormonal examination of the tissue is performed.

Treatment and prevention of primary miscarriage

If pregnancy is threatened by endocrine disorders in a woman, then after laboratory tests, the doctor prescribes hormone therapy. In order to prevent unwanted hormone surges, medications can be prescribed even before pregnancy, with subsequent adjustment of the dosage and drugs already during pregnancy. In the case of hormonal therapy, the state of the expectant mother is always monitored and appropriate laboratory tests (analyzes) are performed.

If miscarriage is due to uterine factors, then appropriate treatment is carried out several months before the conception of the baby, since it requires surgical intervention. During the operation, synechia is dissected, polyps of the uterine cavity are eliminated, fibroids that interfere with the course of pregnancy are removed. Before pregnancy, medications treat infections that contribute to the development of endometritis. Isthmic-cervical insufficiency during pregnancy is corrected surgically. Most often, the doctor prescribes suturing of the cervix (for a period of 13-27 weeks) in case of insufficiency - the cervix begins to shorten, become softer, the opening of the internal or external pharynx occurs. Remove stitches for a period of 37 weeks of pregnancy. A woman with a sutured cervix is \u200b\u200bshown a sparing physical regime, the absence of psychological stress, since even on the sutured cervix leakage of amniotic fluid is possible.

In addition to suturing the cervix, a less traumatic intervention is used - putting on the Meyer ring (obstetric pessary) on the cervix, which also protects the cervix from further opening.

The doctor will offer you the most suitable method for each specific situation.

Do not forget that not only ultrasound data are important, but also information obtained during a vaginal examination, since the neck can be not only shortened, but also softened.

To prevent and treat problems associated with the future mother’s hemostasis system, the doctor will prescribe laboratory blood tests (hemostasis system mutations, coagulogram, D-dimer, etc.). Based on the published results of the examination, medication (tablets, injections) that improve blood flow can be used. Expectant mothers with impaired venous blood flow are recommended to wear therapeutic compression hosiery.

There can be many reasons for miscarriage. We did not mention severe extragenital pathologies (diseases that are not related to the genital area), in which it is difficult to bear a child. It is possible that a particular woman "works" for her condition, not one reason, but several factors that, overlapping each other, give such a pathology.

It is very important that a woman with a miscarriage (three loss or more in history) be examined and undergo medical preparation BEFORE the upcoming pregnancy in order to avoid this complication.

The treatment of such a pathology is extremely difficult and requires a strictly individual approach.

Most women immediately after a miscarriage in the early stages of treatment as such are not required. The uterus is gradually and completely self-cleaning, as it happens during menstruation. However, in some cases, an incomplete miscarriage (partially the remains of the fetal egg remain in the uterine cavity) and when the cervix is \u200b\u200bbent, it becomes necessary to cure the uterine cavity. Such manipulation is also required for intensive and non-stop bleeding, as well as in cases of a threat of the development of an infectious process or if, according to ultrasound examination, the remains of the membranes are found in the uterus.

Anomalies in the structure of the uterus is one of the main causes of habitual miscarriage (the reason is in 10-15% of cases of repeated miscarriage in both the first and second trimesters of pregnancy). Such structural anomalies include: an irregular uterus, a septum in the uterine cavity, deforming the uterine cavity, benign neoplasms (fibroids, fibroids, fibromyomas) or scars from previous surgeries (cesarean section, removal of fibromatous nodes). As a result of such violations, problems arise for the growth and development of the fetus. The solution in such cases is the elimination of possible structural abnormalities and very close monitoring during pregnancy.

A certain role in the habitual miscarriage is played by a certain weakness of the muscle ring of the cervix, with the most typical term for terminating a pregnancy for this reason being 16-18 weeks of pregnancy. Initially, weakness of the cervical muscle ring can be congenital, and can also result from medical interventions - traumatic injuries of the cervical muscle ring (as a result of abortion, cleansing, rupture of the cervix during childbirth) or a certain kind of hormonal disorder (in particular, an increase in male sex hormones). The problem can be solved by applying a special suture around the cervix at the beginning of a subsequent pregnancy. The procedure is called "cervical sexing."

A significant cause of habitual miscarriage is hormonal imbalance. Thus, studies have shown that low progesterone levels are extremely important when maintaining pregnancy in the early stages. It is the insufficiency of this hormone that is the cause of early termination of pregnancy in 40% of cases. The modern pharmaceutical market is significantly replenished with drugs similar to the hormone progesterone. They are called progestins. The molecules of such synthetic substances are very similar to progesterone, but they also have a number of differences due to modification. These kinds of drugs find their use in hormone replacement therapy in cases of insufficiency of the corpus luteum, although each of them has a certain range of shortcomings and side effects. At present, only one drug that is completely identical to natural progesterone can be called - Utrozhestan. The drug is very convenient to use - it can be taken orally and injected into the vagina. Moreover, the vaginal route of administration has a large number of advantages, since, being absorbed into the vagina, progesterone immediately enters the uterine bloodstream, therefore, the secretion of progesterone by the corpus luteum is simulated. To maintain the luteal phase, micronized progesterone is prescribed in a dose of 2-3 capsules per day. If the pregnancy develops successfully against the background of the use of Utrozhestan, then its administration continues, and the dose increases to 10 capsules (as determined by the gynecologist). Over the course of pregnancy, the dosage of the drug gradually decreases. The drug is reasonably used until the 20th week of pregnancy.

A pronounced hormonal disorder may be the result of polycystic ovaries, resulting in multiple cystic formations in the body of the ovaries. The reasons for repeated non-elimination in such cases are not well understood. Habitual miscarriage is often the result of immune disorders in the mother and fetus. This is due to the specific feature of the body to produce antibodies to fight penetrating infections. However, antibodies against the body's own cells (autoantibodies) can also be synthesized in the body, which can attack the body's own tissues, which causes health problems, as well as premature termination of pregnancy. These autoimmune disorders are the cause in 3-15% of cases of habitual miscarriage. In such a situation, first of all, using special blood tests, it is necessary to measure the current level of antibodies. Treatment involves the use of small doses of aspirin and drugs that promote blood thinning (heparin), which leads to the possibility of bearing a healthy baby.

Modern medicine pays attention to a new genetic anomaly - this is a Leiden mutation of factor V, which affects blood coagulation. This genetic trait can also play an important role in repeated miscarriage. The treatment of such disorders is currently not fully developed.

A special place among the causes of habitual non-abortion is occupied by asymptomatic infectious processes in the genitals. Prevention of premature termination of pregnancy is possible by a routine examination of partners for infections, including women, before a planned pregnancy. The main pathogens that cause habitual miscarriage are mycoplasmas and ureaplasmas. Antibiotics are used to treat such infections: ofloxin, vibromycin, doxycycline. The treatment should be performed by both partners. A control examination for the presence of these pathogens is performed one month after the end of antibiotic therapy. Extremely necessary in this case is a combination of local and general treatment. Locally, it is better to use drugs with a wide spectrum of action, affecting several pathogens at the same time.

In the event that the causes of repeated miscarriage even after a comprehensive examination cannot be detected, the spouses should not lose hope. It has been statistically found that in 65% of cases after miscarriage, spouses have a successful subsequent pregnancy. For this, it is important to strictly comply with the prescriptions of doctors, namely to take a proper break between pregnancies. For a full physiological recovery after a spontaneous miscarriage, it takes from several weeks to a month, depending on how long the pregnancy terminated. For example, certain hormones of pregnancy remain in the blood for one or two months after a miscarriage, and menstruation in most cases begins 4-6 weeks after the abortion. But psycho-emotional recovery often requires significantly more time.

It should be remembered that the observation of a pregnant woman with habitual miscarriage should be carried out weekly, and if necessary, more often, for which hospitalization is carried out in a hospital. After establishing the fact of pregnancy, an ultrasound examination should be performed to confirm the uterine form, and then every two weeks until the term at which the termination of the previous pregnancy occurred. If, according to ultrasound, the fetal cardiac activity is not recorded, then it is recommended to perform fetal tissue sampling for karyotyping.

As soon as the fetal cardiac activity is detected, additional blood tests become unnecessary. However, at a later stage of pregnancy, in addition to ultrasound, an assessment of the level of α-fetoprotein is desirable. An increase in its level may indicate malformations of the neural tube, and low values \u200b\u200bmay indicate chromosomal abnormalities. An increase in the concentration of α-fetoprotein for no apparent reason at a period of 16-18 weeks of pregnancy may indicate a risk of spontaneous abortion in the second and third trimesters.

Of great importance is the assessment of the fetal karyotype. This study should be conducted not only for all pregnant women over 35 years old, but also for women with habitual miscarriage, which is associated with an increased likelihood of fetal malformations during subsequent pregnancy.

When treating habitual miscarriage of an unclear reason, one of the alternatives can be considered an IVF technique. This method allows the study of germ cells for the presence of chromosomal abnormalities even before artificial in vitro fertilization. The combination of the use of this technique using a donor egg gives positive results in the desired full pregnancy. According to statistics, a full pregnancy in women with habitual miscarriage after this procedure occurred in 86% of cases, and the frequency of miscarriages is reduced to 11%.

In addition to the described various methods of treating habitual miscarriage, it is necessary to note non-specific, background therapy, the purpose of which is to remove the increased tone of the muscular wall of the uterus. It is the increased tone of the uterus of various nature that is the main cause of premature miscarriages. Treatment involves the use of no-shpa, suppositories with papaverine or belladonna (injected into the rectum), intravenous drip of magnesia.

Head of
“Oncogenetics”

Jusina
Julia Gennadevna

She 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, Voronezh State Medical University N.N. Burdenko.

2015 - certification course in the specialty "Hematology" on the basis of the Hematological Scientific Center of Moscow.

2015-2016 - general practitioner VGKBSMP №1.

2016 - the theme of the dissertation for the degree of candidate of medical sciences “the 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 publications. Member of scientific and practical conferences on genetics and oncology.

2017 - refresher 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 Genetic Medical Genetic Center. Assistant, Department of Medical Genetics, Russian Medical Academy of Continuing Professional Education.

He graduated from the medical faculty of Moscow State Medical and Dental University in 2009, and in 2011 - residency in the specialty "Genetics" at the Department of Medical Genetics of the same university. In 2017, he defended his thesis for the degree of candidate of medical sciences on the topic: Molecular diagnostics of variations in the number of copies of DNA sites (CNVs) in children with congenital malformations, phenotypic abnormalities and / or mental retardation when using high density SNP oligonucleotide microarrays ”

From 2011-2017 he worked as a geneticist at the Children's Clinical Hospital. N.F. Filatov, scientific advisory department of the Federal State Budgetary Scientific Institution Medical Genetic Research Center. From 2014 to the present, he has been the head of the Genetics Department of the Genomemed MGC.

The main areas of activity: diagnosis and management of patients with hereditary diseases and congenital malformations, epilepsy, genetic counseling for families in which a child with a hereditary pathology or malformations was born, prenatal diagnosis. During the consultation, clinical data and genealogy are analyzed to determine the clinical hypothesis and the required 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. Speaks regularly at conferences. He lectures for geneticists, neurologists and obstetrician-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.

The area of \u200b\u200bprofessional interests is the introduction of modern genome-wide research into clinical practice, the interpretation of their results.

Reception time: Wed, Fri 16-19

Head of
   "Neurology"

Sharkov
Artyom 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 the organization of a database and algorithm for the interpretation of xGenCloud genetic tests (http://www.xgencloud.com/, Project Manager - Igor Ugarov)

In 2013 he graduated from the Pediatric Department of the N.I. Russian National Research Medical University Pirogov.

From 2013 to 2015 he studied at the Clinical Residency in Neurology at the Scientific Center of Neurology.

Since 2015, he has been working as a neurologist, researcher at the Academician Yu.E. Scientific Clinical Institute of Pediatrics. Veltishchev GBOU VPO RNIMU them. N.I. Pirogov. He also works as a neurologist and doctor in the video-EEG monitoring laboratory at the Clinical Center for Epileptology and Neurology named after A.A.Kazaryan ”and“ Epilepsy Center ”.

In 2015, he studied in Italy at the school "2nd International Residential Course on Drug Resistant Epilepsies, ILAE, 2015".

In 2015, continuing education - “Clinical and molecular genetics for practitioners”, Russian Children's Clinical Hospital, RUSNANO.

In 2016, continuing education - “Fundamentals of Molecular Genetics” under the guidance of bioinformatics, Ph.D. Konovalova F.A.

Since 2016 - head of the neurological department of the Genomed laboratory.

In 2016, he studied in Italy at the school "San Servolo international advanced course: Brain Exploration and Epilepsy Surger, ILAE, 2016".

In 2016, continuing education - "Innovative genetic technologies for doctors", "Institute of Laboratory Medicine".

In 2017 - the school “NGS in Medical Genetics 2017”, Moscow State Scientific Center

He is currently conducting research in the field of genetics of epilepsy under the guidance of a professor, MD Belousova E.D. and professors, MD Dadali E.L.

The topic of the thesis for the degree of candidate of medical sciences "Clinical and genetic characteristics of monogenic variants of early epileptic encephalopathies" was approved.

The main activities are the diagnosis and treatment of epilepsy in children and adults. A narrow specialization is the surgical treatment of epilepsy, the genetics of epilepsy. Neurogenetics

Scientific publications

Sharkov A., Sharkova I., Golovteev A., Ugarov I. “Optimization of differential diagnosis and interpretation of the results of genetic testing by the XGenCloud expert system for some forms of epilepsy”. Medical Genetics, No. 4, 2015, p. 41.
*
  Sharkov A.A., Vorobyov A.N., Troitsky A.A., Savkina I.S., Dorofeeva M.Yu., Melikyan A.G., Golovteev A.L. "Surgery of epilepsy in multifocal brain damage 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.
*
Dadali E.L., Belousova E.D., Sharkov A.A. "Molecular genetic approaches to the diagnosis of monogenic idiopathic and symptomatic epilepsy." The thesis of the XIV Russian Congress "INNOVATIVE TECHNOLOGIES IN PEDIATRICS AND CHILDREN'S SURGERY". Russian Bulletin of Perinatology and Pediatrics, 4, 2015. - p.221.
*
  Sharkov A.A., Dadali E.L., Sharkova I.V. "A rare variant of early type 2 epileptic encephalopathy due to mutations in the CDKL5 gene in a male patient." Conference "Epileptology in the neuroscience system". Conference proceedings: / Edited by: prof. Neznanova N.G., prof. Mikhailova V.A. SPb .: 2015. - p. 210-212.
*
  Dadali E.L., Sharkov A.A., Kanivets I.V., Gundorova P., Fominykh V.V., Sharkova I., B. ,. Troitsky A.A., Golovteev A.L., Polyakov A.V. A new allelic variant of type 3 myoclonus epilepsy, caused by mutations in the KCTD7 gene // Medical Genetics.-2015.- vol.14.-No9.- p.44-47
*
  Dadali E.L., Sharkova I.V., Sharkov A.A., Akimova I.A. "Clinical and genetic features and modern methods for the diagnosis of hereditary epilepsy." Collection of materials "Molecular biological technologies in medical practice" / Ed. Corr. RANS A.B. Maslennikova .-- Issue. 24.- Novosibirsk: Akademizdat, 2016.- 262: p. 52-63
*
  Belousova E.D., Dorofeeva M.Yu., Sharkov A.A. Epilepsy with tuberous sclerosis. In "Brain Diseases, Medical and Social Aspects" edited by Gusev E.I., Gekht A.B., Moscow; 2016; pg. 391-399
*
  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 Pediatric Neurology.- T. 11.- No. 2, p. 33-41. doi: 10.17650 / 2073-8803- 2016-11- 2-33- 41
*
  Sharkov A.A., Konovalov F.A., Sharkova I.V., Belousova E.D., Dadali E.L. Molecular genetic approaches to the diagnosis of epileptic encephalopathies. Abstracts book “VI BALTIC CONGRESS ON CHILDREN NEUROLOGY” / Edited by Professor V. Guzeva St. Petersburg, 2016, p. 391
*
  Hemispherotomy in pharmacoresistant 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. Abstracts book “VI BALTIC CONGRESS ON CHILDREN NEUROLOGY” / Edited by Professor V. Guzeva St. Petersburg, 2016, p. 157.
*
*
Article: Genetics and differential treatment of early epileptic encephalopathies. A.A. Sharkov *, I.V. Sharkova, E.D. Belousova, E.L. Gave it. Journal of Neurology and Psychiatry, 9, 2016; Vol. 2doi: 10.17116 / jnevro 20161169267-73
*
  Golovteev A.L., Sharkov A.A., Troitsky A.A., Altunina G.E., Zemlyansky M.Yu., Kopachev D.N., Dorofeeva M.Yu. "Surgical treatment of epilepsy in tuberous sclerosis" edited by M. Dorofeeva, Moscow; 2017; p.274
*
  New international classifications of epilepsy and epileptic seizures of the International League for the fight against epilepsy. Journal of Neurology and Psychiatry. C.C. Korsakova. 2017.V. 117. No. 7. P. 99-106

Head of
"Prenatal diagnosis"

Kiev
Julia Kirillovna

In 2011, she graduated from Moscow State Medical and Dental University. A.I. Evdokimova, majoring in General Medicine, studied in residency at the Department of Medical Genetics of the same university, majoring in Genetics

In 2015, she graduated from the internship in Obstetrics and Gynecology at the Medical Institute for Advanced Medical Studies of FSBEI HPE “MGUPP”

Since 2013, he has been conducting an advisory appointment at the Center for Family Planning and Reproduction GBUZ DZM

Since 2017, he is the head of the "Prenatal Diagnostics" direction at the Genomed Laboratory

She regularly gives presentations at conferences and seminars. He lectures for doctors of various specialties in the field of reproduction and prenatal diagnosis

Provides medical and genetic counseling to pregnant women on prenatal diagnosis in order to prevent the birth of children with congenital malformations, as well as families with presumably hereditary or congenital pathologies. It interprets the results of DNA diagnostics.

SPECIALISTS

Latypov
Arthur Shamilevich

Latypov Arthur Shamilevich - a geneticist of the highest qualification category.

After graduating from the medical faculty of the Kazan State Medical Institute in 1976, he worked for many at first as a doctor of the medical genetics cabinet, 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 lecturer at the departments of the Kazan Medical University.

The author of more than 20 scientific papers on the problems of reproductive and biochemical genetics, a participant in many domestic and international congresses and conferences on the problems of medical genetics. He introduced the methods of mass screening of pregnant and newborns for hereditary diseases into the practical work of the center, conducted thousands of invasive procedures for suspected hereditary diseases of the fetus at different stages of pregnancy.

Since 2012, she has been working at the Department of Medical Genetics with a course of prenatal diagnostics of the Russian Academy of Postgraduate Education.

Research interests include metabolic diseases in children, prenatal diagnosis.

Reception time: SR 12-15, Sat 10-14

Doctors are admitted by appointment.

Geneticist

Gabelco
Denis Igorevich

In 2009 he graduated from the medical faculty of KSMU. S. V. Kurashova (specialty "General Medicine").

Internship at the St. Petersburg Medical Academy of Postgraduate Education of the Federal Agency for Health and Social Development (specialty "Genetics").

Therapy internship. 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.

Sphere of professional interests: prenatal diagnosis, the use of modern screening and diagnostic methods to identify the 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.

Advice by appointment

Doctors are admitted by appointment.

Geneticist

Grishina
Kristina Alexandrovna

She graduated in 2015 from the Moscow State Medical-Dental University with a degree in General Medicine. In the same year, she entered the residency specialty 30.08.30 “Genetics” at the Federal State Budgetary Scientific Institution “Medical Genetic Research Center”.
   She was hired by the Laboratory of Molecular Genetics of Difficult Inherited Diseases (Head - Doctor of Biological Sciences A. Karpukhin) in March 2015 as a laboratory assistant-researcher. Since September 2015, she was transferred to the position of researcher. He is the author and co-author of more than 10 articles and theses on clinical genetics, oncogenetics and molecular oncology in Russian and foreign journals. A regular participant in conferences on medical genetics.

Field of scientific and practical interests: genetic counseling of patients with hereditary syndromic and multifactorial pathology.

   Consultation of a geneticist allows you to answer the questions:

whether the child’s symptoms are signs of a hereditary disease what research is needed to identify the cause accurate prediction recommendations for conducting and evaluating the results of prenatal diagnosis everything you need to know when planning a family consultation when planning IVF field and online consultations

she took part in the scientific and practical school "Innovative genetic technologies for doctors: use in clinical practice", the conference of the European Society of Human Genetics (ESHG) and other conferences on human genetics.

Conducts medical and genetic counseling for families with presumably inherited or congenital pathologies, including monogenic diseases and chromosomal abnormalities, determines indications for laboratory genetic studies, and interprets the results of DNA diagnostics. Advises pregnant women on issues of prenatal diagnosis in order 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 reproductive counseling and hereditary pathology.

She graduated from the Ural State Medical Academy in 2005.

Residency in Obstetrics and Gynecology

Internship in Genetics

Professional retraining in the specialty "Ultrasound Diagnostics"

Activities:

• Infertility and Miscarriage
  Vasilisa Yurievna



He is a graduate of the Nizhny Novgorod State Medical Academy, Faculty of Medicine (specialty "General Medicine"). She graduated from the clinical residency of FGBNU "MGNTS" with a degree in Genetics. In 2014, she completed an internship at the clinic for maternity and childhood (IRCCS materno infantile Burlo Garofolo, Trieste, Italy).

Since 2016, she has been working as a medical consultant at LLC Genomed.

He regularly participates in scientific and practical conferences on genetics.

Main areas of activity: Consulting on clinical and laboratory diagnosis of genetic diseases and interpretation of results. Management of patients and their families with presumably hereditary pathology. Counseling during pregnancy planning, as well as during pregnancy on issues of prenatal diagnosis in order to prevent the birth of children with congenital pathology.

POST-DIPLOMA EDUCATION Miscarriage - a modern view of the problem * V.M. SIDELNIKOVA Miscarriage: the present view of the problem V.M. SIDELNIKOVA Scientific Center for Obstetrics, Gynecology and Perinatology RAMS, Moscow A modern view of the problem of miscarriage is presented. The definitions of premature termination of pregnancy are given depending on the gestational age. The reasons for abortion at different times are indicated, recommendations for a practitioner on the prevention of premature abortion are listed. The author provides the present view of miscarriage. She gives definitions of premature interruption of pregnancy in relation to the term of gestation. The causes of miscarriage are indicated in different periods. Guidelines are given for the practitioner for the prevention of premature pregnancy interruption. Among the most important problems of practical obstetrics, one of the first places is miscarriage, accounting for 20% of all pregnancy cases (15% - spontaneous miscarriages and 5% - premature births), and this indicator does not tend to decrease, despite numerous and effective diagnostic methods and treatments developed in recent years, i.e. every 5th pregnancy is practically lost. In Russia, up to 170,000 spontaneous miscarriages occur annually. It is believed that this does not take into account a large number of very early and subclinically occurring miscarriages. Miscarriage - spontaneous abortion from the moment of conception to 37 weeks. In world practice, it is customary to distinguish between early pregnancy losses (from the moment of conception to 22 weeks) and preterm birth (from 22 to 37 weeks), which are divided into 3 groups taking into account gestational age: from 22 to 27 weeks - very early preterm birth, from 28 up to 33 weeks - early preterm birth, from 34 to 37 weeks - preterm birth. In our country, the gradation of preterm birth (PR) by gestational age is not carried out, preterm birth is considered childbirth with a gestational age of 28-37 weeks. Delivery at a gestational age of 22–27 weeks is not premature, but if the child survives 7 days, then this birth is considered premature, and in the case of a newborn dying after 7 days from birth, this death is taken into account in perinatal mortality rates. However, the division of late terms of termination of pregnancy is fully justified, since the reasons for the termination, treatment tactics and pregnancy outcomes for the newborn are different during these periods of pregnancy. As for the first half of pregnancy, it is completely illogical to reduce all the losses into one group (early pregnancy losses), since the reasons for the interruption, management tactics, and treatment measures are even more different than with the gestational age after 22 weeks, and, apparently, with a modern approach to solving the problem of preserving pregnancy requires graduation of this period of pregnancy by gestational age. In our country, early pregnancy loss (from the moment of conception to 12 weeks) and late pregnancy loss (from 13 to 21 weeks of pregnancy) are distinguished. Early pregnancy losses (up to 12 weeks) make up almost 85% of all losses and the shorter the gestation period, the more often the embryo dies first, and then the abortion symptoms appear. Many researchers believe that spontaneous miscarriages in the first trimester are a natural selection tool, since when examining abortions they find from 60 to 80% of embryos with chromosomal abnormalities, this is more true for sporadic interruptions. For habitual pregnancy losses, chromosomal losses are not so significant, and in most cases the causes of abortion determine the causes of abortion. Each stage of pregnancy is characterized by its "pain points", which in most cases are the leading causes of abortion. V.M. Sidelnikova, 2007 * Report at the VIII All-Russian Scientific Forum "Mother and Child". 62 RUSSIAN NEWSLETTER OF OBSTETRIC GYNECOLOGIST, 2, 2007 POST-DIPLOMA TRAINING In cases of abortion in terms of up to 5-6 weeks, the leading causes are features of the karyotype of parents (translocation and chromosome inversion), a high degree of compatibility with the HLA system and the presence of some markers of possible genetic pathology, high the level of NK cells in the endometrium with a high level of pro-inflammatory cytokines in the blood. With the usual termination of pregnancy in 7-10 weeks, the leading causes are hormonal disorders: insufficiency of the luteal phase of any genesis, hyperandrogenism due to impaired folliculogenesis, hypoestrogenism at the stage of choosing the dominant follicle, incomplete development or overriding of the egg, defective formation of the corpus luteum, defective endometrial secretory transformation. As a result of these disorders, an inferior trophoblast invasion and the formation of an inferior chorion occur. With habitual miscarriage in periods of more than 10 weeks, the leading causes of disorders in the development of pregnancy are autoimmune disorders and closely related thrombophilic disorders, in particular antiphospholipid syndrome (APS). With AFS without treatment, in 95% of pregnant women, the fetus dies as a result of thrombosis, placental infarction, placental abruption, development of placental insufficiency and early manifestations of gestosis. With a gestational age of more than 15-16 weeks, the causes of miscarriage of infectious genesis (gestational pyelonephritis, ischemic-cervical insufficiency - ICI) come to the fore. Due to the local immunosuppression characteristic of pregnant women during these periods, candidiasis, vaginosis, and colpitis are often detected. Ascending infection with ICI leads to premature outflow of amniotic fluid and the development of contractile activity of the uterus under the influence of the infectious process. This considerable list of reasons shows that it is impossible to solve all problems during pregnancy. To understand the causes and pathogenesis of interruption is possible only on the basis of a thorough examination of the couple before pregnancy. And this requires modern technology, i.e. highly informative research methods: genetic, immunological, hemostasiological, endocrinological, microbiological, etc. Table 1 is also required. Premature birth rate Country Number of preterm births,% USA 1 0, 1 England 7, 8 France 7, 2 Germany 9 -1 0 Hungary 10 Norway 7, 9 Russia 4, 5 RUSSIAN BULLETIN OF OBSTETRIC GYNECOLOGIST, 2, 2007 high professionalism of a doctor who can read and analyze hemostasiogram, immunograms, understand information about genetic markers of pathology, based on these data odobrat therapy, which is the etiological and pathogenetic and not symptomatic, and therefore ineffective. The greatest discussion is caused by problems that occur during pregnancy 22-27 weeks. On the recommendation of WHO, childbirth during this period of pregnancy is considered to be premature. But children born during gestational periods of 22-23 weeks, practically do not survive, and in many countries they consider preterm delivery at 24 or 26 weeks. In this regard, the number of preterm births varies in different countries (Table 1). Where births from 22 weeks are considered preterm, their number is 10%, where from 24-26 weeks they are slightly lower, and in our country the number of preterm births is 4.5-5%. During pregnancy 22-27 weeks, possible fetal malformations are specified according to ultrasound, the results of fetal karyotyping after amniocentesis. If abnormalities are identified, an abortion is performed for medical reasons. The question of whether these cases can be attributed to preterm birth and included in the indicators of perinatal mortality remains open. In addition, often the fetal body weight at birth is taken as a marker of gestational age: if the body weight is less than 1000 g, then this is termination of pregnancy up to 28 weeks, but up to 64% of fetuses with a gestation period of up to 33 weeks have intrauterine growth retardation and body weight at birth not appropriate to their gestational age. The outcome of labor for a premature fetus is more accurately determined by gestational age, and not by fetal body weight. Analysis of losses during pregnancy periods of 22-27 weeks showed that the main causes of abortion are ICI, infection, prolapse of the fetal bladder, premature discharge of water; multiple pregnancy with the same infectious complications and fetal malformations. Nursing children during these gestational periods is a very complex and costly problem requiring huge material costs and high professionalism of medical personnel. The experience of many countries where labor is considered to be preterm birth at these gestational age periods shows that with a decrease in perinatal mortality during these periods, disability indicators from childhood increase by the same amount. Delivery at a gestational age of 28-33 weeks in the structure of preterm birth is approximately 1/3, the rest are preterm birth at 34-37 weeks, the outcome of which for the fetus is almost comparable to the outcome of a full-term pregnancy. Preterm birth syndrome is multifactorial. However, an analysis of the mechanisms of development of preterm labor allows us to distinguish 4 main causes: - infection (acute, chronic, systemic, ascending; bacterial and / or viral) due to the increased level of pro-inflammatory cytokines; 63 Table 2. Preterm birth outcomes for newborns Birth outcome for newborns with gestational age 2 8 -3 3 weeks Cesarean section (n \u003d 7 9) n children \u003d 1 0 4 Delivery through the natural birth canal (n \u003d 1 7) n children \u003d 1 7 a b s. % a b s % Stillbirth 7 41 2 1, 9 Early neonatal death 3 30 8 7, 9 - stress of the mother and / or fetus due to the presence of extragenital pathology, pregnancy complications, and as a result of these processes - the development of placental insufficiency, increased levels of corticotropin-releasing hormone fetal and / or placental and as a result of this - the development of preterm birth or elective premature termination of pregnancy; - thrombophilic disorders that lead to detachment, placental thrombosis; a high level of thrombin can provoke an increase in prostaglandin levels, activation of proteases, placental abruption (the most common cause of early elective delivery); - overstretching of the uterus with multiple pregnancy, polyhydramnios, with malformations of the uterus, infantilism; due to the extension of myometrial cells, the activation of oxytocin receptors, the release of integrins, the appearance of gap junctions and the development of preterm labor. An analysis of the causes of preterm birth showed that up to 40% of the PR is due to the presence of infection, up to 30% of the PR is due to the premature discharge of amniotic fluid, which is also often caused by an ascending infection. Isthmic-cervical insufficiency is one of the etiological factors of premature birth. The introduction into practice of assessing the condition of the cervix by transvaginal ultrasound showed that the degree of viability of the cervix can be different and often ICN appears in late pregnancy, which leads to prolapse of the bladder, infection and childbirth. The next most important cause of preterm birth is chronic fetal distress due to the development of placental insufficiency in gestosis, extragenital diseases, thrombophilic disorders. Overstretching of the uterus with multiple pregnancy is one of the causes of premature birth and the extremely complicated course of pregnancy in women after the application of new reproductive technologies. According to our data, 20% of all preterm births are caused by multiple pregnancy. Often there is a combination of the above factors in the development of preterm birth. Without knowing the reasons for the development of preterm birth, successful treatment cannot be carried out; Thus, tocolytic drugs with different mechanisms of action have been used in the world for more than 40 years, and the frequency of preterm birth does not change. In most perinatal centers, only 40% of preterm births are spontaneous and pass through the natural birth canal. The remaining preterm births are most often induced by caesarean section. Apparently, the outcome of childbirth for the fetus, perinatal morbidity of newborns during termination of pregnancy by surgery can significantly differ from the outcome of childbirth for the newborn in spontaneous preterm delivery, although the causes of PR may be similar. Thus, according to our data, in the analysis of 96 preterm births with gestational periods of 28-33 weeks (17 spontaneous and 79 by cesarean section), the outcome of the birth for the fetus was different (Table 2). Given the unfavorable outcomes of preterm delivery for the baby, more attention should be paid to the problem of preventing preterm delivery at the level of the entire population of pregnant women, and this program should include: - Examination of women at risk of developing miscarriage and perinatal loss and rational preparation of spouses for pregnancy; - control of infectious complications during pregnancy; in world practice, it is customary to conduct a screening examination to detect infection during the first visit, and then each month bacteriuria and Gram smear are evaluated; In addition, markers of early manifestations of intrauterine infection (fibronectin, Il-6 in the mucus of the cervical canal, TNF, I1-1? in the blood, etc.); - timely diagnosis of isthmic-cervical insufficiency (ultrasound transvaginal probe, manual assessment of the cervix up to 24 weeks, and with multiple pregnancy up to 26-27 weeks) and adequate therapy - antibacterial, immunotherapy; - prevention of placental insufficiency from the first trimester in risk groups, monitoring and therapy of thrombophilic disorders, rational therapy of extragenital pathology; - Prevention of preterm birth by improving the quality of management of pregnant women at the level of the entire population. RUSSIAN BULLETIN OF OBSTETRIC GYNECOLOGIST, 2, 2007

Among the most important problems of practical obstetrics, one of the first places is miscarriage, the frequency of which is 20%, i.e., every 5th pregnancy is practically lost, and has no tendency to decrease, despite the numerous and highly effective diagnostic and treatment methods developed in last years. It is believed that the statistics do not include a large number of very early and subclinically occurring miscarriages. Sporadic termination of pregnancy at short terms is considered by many researchers as a manifestation of natural selection with a high frequency (up to | 60%) of the abnormal karyotype of the embryo. The usual loss of pregnancy (childless marriage) is observed in 3-5% of couples. With the usual loss of pregnancy, the frequency of the abnormal karyotype of the embryo is much lower than with sporadic miscarriage. After two spontaneous miscarriages, the frequency of termination of subsequent pregnancy is already 20-25%, after three - 30-45%. Most specialists dealing with the problem of miscarriage now conclude that two successive miscarriages are enough to classify the couple as habitual loss of pregnancy, followed by a mandatory examination and a set of measures to prepare for pregnancy.

Miscarriage   - its spontaneous interruption in the period from conception to 37 weeks. In world practice, it is customary to distinguish between early pregnancy losses (from conception to 22 weeks) and preterm birth (from 22 to 37 weeks). Preterm birth is divided into 3 groups, taking into account the gestational age from 22 to 27 weeks - very early preterm birth, from 28 to 33 weeks - early preterm birth and during pregnancy 34-37 weeks - preterm birth. This division is justified, since the causes of interruption, treatment tactics and pregnancy outcomes for the newborn are different during these periods of pregnancy.

As for the first half of pregnancy, it is completely illogical to reduce everything into one group (early pregnancy loss), since the reasons for the interruption, management tactics, and therapeutic measures are even more different than with a gestational age after 22 weeks.

In our country, it is customary to distinguish early and late miscarriages, termination of pregnancy at 22-27 weeks and premature birth at 28-37 weeks. Early pregnancy losses up to 12 weeks make up almost 85% of all losses and the shorter the gestation period, the more often the embryo dies first, and then the symptoms of termination appear.

The causes of abortion are extremely diverse, and often there is a combination of several etiological factors. Nevertheless, 2 main problems in abortion of the first trimester can be distinguished:
  The 1st problem is the state of the embryo itself and chromosomal abnormalities arising de novo or inherited from parents. Hormonal diseases can lead to chromosomal disturbances of the embryo, leading to disturbances in the processes of follicle maturation, meiosis, mitosis in the egg, and in the sperm.
  The second problem is the condition of the endometrium, i.e., the characteristic of the pathology caused by many reasons: hormonal, thrombophilic, immunological disorders, the presence of chronic endometritis with persistence in the endometrium of viruses, microorganisms, with a high level of pro-inflammatory cytokines, and a high content of activated immune cells.
  However, both in the 1st and in the 2nd group of problems, there is a violation of the processes of implantation and placentation, improper formation of the placenta, which leads either to termination of pregnancy or when it progresses to placental insufficiency with delayed fetal development and the onset of preeclampsia and other pregnancy complications.

In this regard, there are 6 large groups of causes of habitual loss of pregnancy. These include:
   - genetic disorders (inherited from parents or arising de novo);
   - endocrine disorders (luteal phase insufficiency, hyperandrogenism, diabetes, etc.);
   - infectious causes;
   - immunological (autoimmune and alloimmune) disorders;
   - thrombophilic disorders (acquired, closely related to autoimmune disorders, congenital);
   - uterine pathology (malformations, intrauterine synechia, isthmic-cervical insufficiency).

Each stage of pregnancy has its own pain points, which most women are the leading causes of abortion.

With abortion up to 5-6 weeks   leading reasons are:

1. Features of the karyotype of parents (translocation and chromosome inversion). Genetic factors in the structure of the causes of habitual miscarriage are 3-6%. With early pregnancy loss, anomalies in the karyotype of parents, according to our data, are observed in 8.8% of cases. The probability of having a baby with unbalanced chromosomal abnormalities in the presence of balanced chromosome rearrangements in the karyotype of one of the parents is 1 - 15%. The difference in data is due to the nature of the rearrangements, the size of the segments involved, the gender of the carrier, and a family history. If a married couple has a pathological karyotype, even one of the parents recommends a prenatal diagnosis during pregnancy (chorionic biopsy or amniocentesis due to the high risk of fetal chromosomal abnormalities).

2. In recent years, much attention has been paid in the world to the role of the HLA system in reproduction, protecting the fetus from immune aggression of the mother, and in forming tolerance to pregnancy. The negative contribution of certain antigens, carriers of which are men in married couples with miscarriage of early pregnancy, has been established. These include class I HLA antigens - B35 (p< 0,05), II класса - аллель 0501 по локусу DQA, (р < 0,05). Выявлено, что подавляющее число анэмбрионий приходится на супружеские пары, в которых мужчина имеет аллели 0201 по локусу DQA, и/или DQB, имеется двукратное увеличение этого аллеля по сравнению с популяционными данными. Выявлено, что неблагоприятными генотипами являются 0501/0501 и 0102/0301 по локусу DQA, и 0301/0301 по локусу DQB. Частота обнаружения гомозигот по аллелям 0301/0301 составляет 0,138 по сравнению с популяционными данными - 0,06 (р < 0,05). Применение лимфоцитоиммунотерапии для подготовки к беременности и в I триместре позволяет доносить беременность более 90% женщин.

3. It has been established that the immunological causes of early pregnancy loss are due to several disorders, in particular, a high level of pro-inflammatory cytokines, activated NK cells, macrophages in the endometrium, and the presence of antibodies to phospholipids. A high level of antibodies to phosphoserine, choline, glycerol, inositol leads to early pregnancy loss, while lupus anticoagulant and a high content of antibodies to cardiolipin are accompanied by fetal death in the later stages of pregnancy due to thrombophilic disorders. A high level of pro-inflammatory cytokines has a direct embryotoxic effect on the embryo and leads to chorionic hypoplasia. Under these conditions, pregnancy cannot be maintained, and if pregnancy is maintained at lower levels of cytokines, primary placental insufficiency is formed. Large granular lymphocytes of the endometrium CD56 account for 80% of the total population of immune cells in the endometrium at the time of implantation of the embryo. They play a large role in trophoblast invasion, alter the mother’s immune response with the development of pregnancy tolerance due to the release of progesterone-induced blocking factor and T2 activation to the production of blocking antibodies; provide the development of growth factors and pro-inflammatory cytokines, the balance of which is necessary for trophoblast invasion and placentation.

4. In women with failures in the development of pregnancy, both with habitual miscarriage and after IVF, the level of aggressive LNK cells, the so-called lymphokinactivated (CD56 + l6 + CD56 + 16 + 3 +), increases sharply, which leads to an imbalance between regulatory and pro-inflammatory cytokines in the direction of the prevalence of the latter and the development of local thrombophilic disorders and termination of pregnancy. Very often, women with a high level of LNK in the endometrium have a thin endometrium with impaired blood flow in the vessels of the uterus.

With habitual abortion in 7-10 weeks in the leading causes are hormonal disorders:

1. insufficiency of the luteal phase of any genesis,
  2. hyperandrogenism due to impaired folliculogenesis,
  3. hypoestrogenism at the stage of choosing the dominant follicle,
  4. defective development or overriding of the egg,
  5. defective corpus luteum formation,
  6. inferior secretory transformation of the endometrium.
  As a result of these disorders, an inferior trophoblast invasion and the formation of an inferior chorion occur. Pathology of the endometrium due to hormonal disorders is not
always determined by the level of hormones in the blood. Endometrial receptor apparatus may be impaired; activation of receptor apparatus genes may be absent.

With habitual miscarriage in terms of more than 10 weeks   The leading causes of impaired pregnancy development are:

1. autoimmune problems
  2. closely related thrombophilic, in particular antiphospholipid syndrome (APS). With AFS without treatment in 95% of pregnant women, the fetus dies due to thrombosis, placental infarction, its detachment, development of placental insufficiency and early manifestations of gestosis.

The following forms of genetically determined thrombophilia are related to thrombophilic conditions during pregnancy, leading to habitual miscarriage:
  deficiency of antithrombin III,
  mutation of factor V (Leydin mutation),
  protein C deficiency
  protein S deficiency,
  mutation of the prothrombin gene G20210A,
  hyperhomocysteinemia.

Screening for hereditary thrombophilia is carried out with:
  - the presence of thromboembolism in relatives under the age of 40 years,
  unclear episodes of venous and / or arterial thrombosis under the age of 40 years with recurring thrombosis in the patient and immediate relatives,
  with thromboembolic complications during pregnancy, after childbirth (repeated loss of pregnancy, stillbirth, intrauterine growth retardation, placental abruption, early onset of preeclampsia, HELLP syndrome),
  - when using hormonal contraception.

Treatment is carried out with antiplatelet agents, anticoagulants, with hyperhomocysteinemia - with the appointment of folic acid, vitamins of group B.

With gestational age after 15-16 weeks   the causes of miscarriage of infectious genesis (gestational pyelonephritis), isthmic-cervical insufficiency come to the fore. In connection with local immunosuppression, characteristic of pregnant women during these periods, candidiasis, bacterial vaginosis, and common colpitis are often detected. Ascending infection in the presence of isthmic-cervical insufficiency leads to premature outflow of amniotic fluid and the development of uterine contractility under the influence of the infectious process.

Even this by no means small list of reasons shows that it is impossible to solve these problems during pregnancy. To understand the causes and pathogenesis of interruption is possible only on the basis of a thorough examination of the couple before pregnancy. And examination requires modern technologies, that is, highly informative research methods: genetic, immunological, hemostasiological, endocrinological, microbiological, etc. High professionalism of a doctor who can read and understand the hemostasiogram, draw conclusions from the immunogram, understand information about genetic markers is also necessary. pathology, based on these data, select etiological and pathogenetic, rather than symptomatic (ineffective) therapy.

The biggest discussions cause problems with a gestational age of 22-27 weeks . On the recommendation of WHO, this period of pregnancy is referred to as premature birth. But children born at 22-23 weeks, practically do not survive, and in many countries they consider premature birth from 24 or 26 weeks. In this regard, indicators of the frequency of preterm birth are different in different countries. In addition, during these periods, possible fetal malformations are specified according to ultrasound data, according to the results of fetal karyotyping after amniocentesis, and pregnancy is terminated for medical reasons. Can these cases be attributed to preterm birth and included in perinatal mortality rates? Often, the mass of the fetus at birth is taken as a marker of gestational age. With a fetal weight of less than 1000 g, an abortion is considered. However, about 64% of children with a gestational age of up to 33 weeks have intrauterine growth retardation and body weight at birth that does not correspond to their gestational age.

The gestational age more accurately determines the outcome of labor for a premature fetus than its weight. An analysis of pregnancy losses at a gestational age of 22-27 weeks at the Center showed that the main immediate causes of abortion are isthmic-cervical insufficiency, infection, prolapse of the fetal bladder, premature discharge of water, multiple pregnancy with the same infectious complications and malformations.
Nursing children born during these periods of pregnancy is a very complex and expensive problem, requiring huge material costs and high professionalism of medical personnel. The experience of many countries in which preterm birth is calculated from the above pregnancy periods indicates that with a decrease in perinatal mortality during these periods, disability from childhood increases by the same amount.

Pregnancy 28-33 weeks   makes up about 1/3 of all preterm births, the rest are preterm births at 34-37 weeks, the outcome of which for the fetus is almost comparable to those in a full-term pregnancy.

An analysis of the immediate causes of abortion showed that up to 40% of preterm births are due to the presence of infection, 30% of births are associated with premature discharge of amniotic fluid, which is also often caused by ascending infection.
  Isthmic-cervical insufficiency is one of the etiological factors of premature birth. The introduction into practice of assessing the condition of the cervix by transvaginal ultrasound showed that the degree of competence of the cervix can be different and often isthmic-cervical insufficiency manifests itself in late pregnancy, which leads to prolapse of the fetal bladder, to infection and to the onset of labor.
  Another significant cause of preterm birth is chronic fetal distress due to the development of placental insufficiency in gestosis, extragenital diseases, and thrombophilic disorders.
  Overstretching of the uterus with multiple pregnancy is one of the causes of premature birth and the extremely complicated course of pregnancy in women after the application of new reproductive technologies.

Without knowledge of the causes of premature birth, there can be no successful treatment. So, tocolytic means of a different mechanism of action have been used in world practice for more than 40 years, but the frequency of preterm birth does not change.

In most of the perinatal centers of the world, only 40% of preterm births are spontaneous and pass through the natural birth canal. In other cases, abdominal delivery is performed. The outcome of childbirth for the fetus, the incidence of newborns during termination of pregnancy in an operative way can differ significantly from the outcome of births for the newborn in spontaneous preterm delivery. Thus, according to our data, in the analysis of 96 preterm births with a period of 28-33 weeks, of which 17 were spontaneous and 79 ended with a cesarean section, the outcome of the birth for the fetus was different. Stillbirths during spontaneous birth amounted to 41%, with caesarean section - 1.9%. Early neonatal mortality was 30 and 7.9%, respectively.

Given the unfavorable outcomes of preterm birth for the baby, it is necessary to pay more attention to the problem of preventing preterm delivery at the level of the entire population of pregnant women. This program should include:

Examination of women at risk of miscarriage and perinatal losses outside pregnancy and the rational preparation of spouses for pregnancy;
  - control of infectious complications during pregnancy: accepted worldwide
  infection screening at the first visit to the doctor, then each month bacteriuria and Gram smear are evaluated. In addition, attempts are being made to identify markers of early manifestations of intrauterine infection (fibronectin IL-6 in the mucus of the cervical canal, TNFa IL-IB in the blood, etc.);
  - timely diagnosis of isthmic-cervical insufficiency (ultrasound transvaginal probe, manual assessment of the cervix up to 24 weeks, and with multiple pregnancy up to 26-27 weeks) and adequate therapy - antibacterial, immunotherapy;
  - prevention of placental insufficiency from the first trimester in risk groups, monitoring and therapy of thrombophilic disorders, rational therapy of extragenital pathology;
  - Prevention of preterm birth by improving the quality of management of pregnant women at the level of the entire population.

The term “habitual miscarriage” in obstetrics is used to denote a situation in which 2 or more gestations are interrupted in a row. In this case, a violation can occur both in the 2-3 trimesters. Consider this pathology in more detail, highlight the reasons.

Habitual miscarriage - causes

Doctors make a diagnosis of this kind more often when the process of carrying a baby is interrupted at the same time 2 or more times in a row. When miscarriage is diagnosed, the causes of which are different, doctors conduct a full assessment of the state of the organs of the pregnant woman. According to medical observations, this pathology occurs as a result of:

1. Chromosomal abnormalities.   About 60% of all cases of interruption of the gestation period are due to this factor. Among the frequent abnormalities of trisomy are 18, 22, 14, 15 chromosomes. These pathologies often cause a miscarriage at 12 weeks.
2. Autoimmune processes.   In almost 80% of women with a similar diagnosis, interferon-gamma production is noted in response to the fetal antigens present. It is worth noting that repeated miscarriages increase the concentration of antibodies acting on the membrane of the embryo in the peripheral blood of the mother.
3. Stressful situations.   In such cases, the production of substances that are part of the immune response is noted. However, there is a narrowing of the vessels of the placenta, which nourishes the fetus.
4. Hormonal disorders.   There are many types of malfunctions of the hormonal system that lead to a violation: increased synthesis of male sex hormones, hyperprolactinemia, disruption of the thyroid gland.
5. Anatomical disorders of the structure of organs.   According to static data, anomalies in the development of the reproductive system lead to the development of miscarriage in 12% of cases.
6. Chronic infectious processes in the reproductive system.   Among the common infectious diseases that cause interruption of gestation at any time: chlamydia, ureaplasmosis.
7. External factors   (occupational hazards, alcohol, nicotine).

Miscarriage in the early stages

Habitual miscarriage at an early stage is often fixed in young women, with an unstable hormonal background. In addition, the following factors lead to an interruption of the gestation process at its very beginning:

• chromosomal abnormalities in the fetus;
• severe forms;
• abnormalities in the structure of the reproductive organs (implantation after successful conception is not possible due to improper anatomy of the uterus).

Miscarriage of late pregnancy

Stabilization of the state, normalization of processes in the later stages, cause a rare development of anomalies in the 2nd and 3rd trimesters. However, it is impossible to completely exclude them. In the later stages of gestation, a familiar miscarriage develops, the causes of which may be the following:

• placental insufficiency - a violation of the processes of formation and growth of a child's place, its functioning;
• cervical insufficiency - ajar cervical canal often causes spontaneous abortion and premature birth at a later date;
• urogenital infections
• gestosis - a condition accompanied by the development of severe edema, increased blood pressure.

Diagnosis of miscarriage

The diagnosis of “habitual miscarriage” is made by the doctor based on the results of a comprehensive examination. Diagnosis of this violation includes:

• genetic counseling;
• Ultrasound or MRI of the pelvic organs;
• endoscopy of the uterine cavity;
• blood test for hormone levels (TSH, FSH, progesterone, LH);
• blood tests for cytomegalovirus, herpes;
• smears from the urethra and vagina;
• endometrial biopsy;
• blood test for sperm bodies;
• screening for a hereditary predisposition to thrombophilia.

Habitual miscarriage - treatment

When a diagnosis of “habitual miscarriage” is made, treatment begins after the cause of the cause has been established. The therapeutic process depends directly on the factor that provoked the pathology. The course of treatment is compiled individually by the doctor based on the results of the examination. Often the treatment process is long, consists of several stages.

So, if a woman has revealed structural changes in the reproductive organ that cause habitual miscarriage of the pregnancy that has begun, the treatment involves surgery to eliminate it. With a weak muscle ring in the cervical canal, doctors impose special sutures that prevent the neck from opening, and prevent premature birth. So you can avoid complications, save the fetus.

With changes in the hormonal nature, the basis for the treatment of such a pathology as habitual miscarriage is a course of antibiotic therapy. Progesterone deficiency often provokes the development of spontaneous abortion. In the case of genetic abnormalities that provoke an abortion, regardless of the term, the only solution is IVF using a donor ejaculate or an egg.