The concept of antenatal pathology. Gametopathy, blastopathy, embryopathy and fetopathy. Embryopetopathy of newborns, congenital heart defects

The concept of periodization and patterns of progenesis and kimatogenesis

The concept of "prenatal (antenatal) pathology" includes all pathological processes and conditions of the human embryo, starting with fertilization and ending with the birth of a child. The prenatal period of a person is calculated by the duration of pregnancy - 280 days, or 40 weeks, after which childbirth occurs.

The doctrine of intrauterine pathology (deformities and malformations) arose a long time ago. In the Arab medicine of the XI, XII and XIII centuries, there were already detailed descriptions of various congenital defects. Ambroise Paré (1510-1590) wrote a book about them. However, the scientific study of this issue began at the beginning of the 20th century (Schwalbe). At the same time, most researchers believed that heredity plays the main role in the development of congenital malformations in humans. Of great importance for understanding the influence of environmental factors on the formation of malformations was the discovery of the Australian ophthalmologist Gregg, who in 1951 published data on the significance of the rubella virus (rubeola) in the occurrence of multiple congenital malformations in humans. He showed that with a mother's disease with rubella in the first third of pregnancy, 12% of children develop congenital defects and stillbirth in 7.2%, 3.9 and 4.6%, respectively, in the second third of pregnancy, the fetus does not arise, and stillbirth occurs in 1.7% of cases. From that moment on, the doctrine of the possibility of manifestation of malformations in humans, caused by the influence of exogenous factors, was formed, and the data on the main value of the time of exposure of these factors to the developing embryo were confirmed.

Currently, prenatal human pathology has grown into a problem that is no less important in medicine than the problem of cardiovascular diseases, tumors and mental illnesses.

All development, from the maturation of the reproductive cell (gametes) to the birth of a mature fetus, is divided into two periods - the period of progenesis and the period of cymatogenesis (from the Greek. kyema- embryo) (Fig. 291). Period progenesis corresponds to the maturation of gametes (ovum and sperm) before fertilization. During this period, the occurrence of gamete pathology is possible - gametopathy. Depending on in which structures of the hereditary apparatus of the gamete the mutation has occurred, there are gene, chromosomal and genomic mutations. Hereditary diseases, including malformations

Rice. 291. Kimatogenesis and types of pathology of the embryo. Left - normal progenesis and cymatogenesis, right - pathology of progenesis and cymatogenesis (according to Gertler)

vitia, may be the result of gamete mutations of the child's parents (spontaneous mutations) or his distant ancestors (inherited mutations).

Period cymatogenesis calculated from the moment of fertilization and the formation of the zygote to childbirth and is divided into three periods. The first period - blastogenesis - lasts from the moment of fertilization until the 15th day of pregnancy, when the egg is cleaved, ending with the release of embryo and trophoblast. Second period - embryogenesis - covers the period of time from the 16th to the 75th day of pregnancy, when the main organogenesis is carried out and the amnion and chorion are formed. Third period - fetogenesis - lasts from the 76th to the 280th day, when the differentiation and maturation of fetal tissues, as well as the formation of the placenta, end in the birth of the fetus. The period of fetogenesis is divided into early fetal (from the 76th to the 180th day), by the end of which the immature fetus acquires viability, and late fetal (from the 181st to the 280th

day), when the maturation of the fetus is completed with the simultaneous aging of the placenta. The pathology of the entire period of kimatogenesis is called kymatopathy. According to the periods of kimatogenesis, the following are distinguished: blastopathy, embryopathy, early and late fetopathy 1.

Etiology. After the discovery of rubeolar embryopathy, ideas about the influence of exogenous factors leading to cymatopathies expanded. This has been confirmed in numerous experimental studies.

According to modern data, 20% of malformations (the main pathology of the period of kimatogenesis) are associated with gene mutations, 10% - with chromosomal aberrations, about 3-4% - with the influence of exogenous factors, more than 60% - with an unexplained etiology. It is believed that multifactorial etiology prevails in the pathology of the embryo, i.e. a combination of hereditary and exogenous factors.

TO exogenous factors that can cause cymatopathy in humans include viruses and some other microorganisms, namely rubella, human immunodeficiency virus (HIV), measles, chickenpox, herpes simplex, hepatitis, as well as mycoplasma, listerrella, treponema, toxoplasma, less often - mycobacterium teberculosis, etc. In addition to infectious agents, kymatopathies can be caused by the influence of radiation energy (γ-rays), ionizing radiation, some drugs - thalidomide, hydantoin, phenytoin, cytostatic drugs, hormones, vitamins (in particular, vitamin D), quinine, etc., alcohol, hypoxia of various origins, endocrine diseases of the mother - diabetes mellitus, thyrotoxic goiter. Alcohol consumption during pregnancy leads to the development of alcoholic embryopetopathy, characterized by general hypoplasia, moderate prematurity, microcephaly, combined with ptosis of the eyelids, epicanthus, microgenia. Congenital heart defects are less common.

Nowadays, in connection with new methods of treatment, they have gained particular importance diabetic and thyrotoxic feto- and embryopathy. Pregnancy was rare in women with diabetes before insulin treatment. At present, the fertility of these women is the same as that of healthy women. However, in children whose mothers are sick with diabetes mellitus, malformations are more common. To the so-called diabetic embryopathy include malformations of the skeleton, cardiovascular, central nervous and genitourinary systems. Diabetic fetopathy manifests itself in the form of prematurity or the birth of a giant cushingoid fetus. With increased and decreased functions of the thyroid gland, there is a tendency to abortion and miscarriage. Among developmental defects in thyrotoxicosis

1 In the narrow sense of the word, only those diseases of the embryo that are caused by exogenous factors are referred to blasto-, embryo- and fettspathies.

anencephaly, heart defects, hypothyroidism with mental retardation - the so-called thyrotoxic embryophetopathy.

Pathogenesis. The mechanism of development of kymatopathy is currently widely studied using many modern methods. The complexity of the study lies in the fact that one has to deal with two biological objects - the mother and the embryo, the connection between which is carried out by a barrier organ - the placenta.

The first pattern characteristic of the pathology of the prenatal period with any pathogenic effect, is a mandatory distortion of the normal course of development of the embryo. Therefore, to understand the pathogenesis of prenatal pathology, it is of great importance to study the reactivity of the embryo in different periods of kimatogenesis, since the main vital function of the embryo is the continuously going process of morphogenesis. The formation processes are primarily affected by the influence of pathogenic factors.

Violation of the course of morphogenesis is called dysontogenesis. However, in different periods of kimatogenesis, disorders of dysontogenesis arise at different levels - from gross violations of the development of the embryo, incompatible with life at its early stages, to changes in the fine ultrastructures of cells and tissues at later stages. As the embryo matures, it gradually develops the ability to respond to various pathogenic influences not only by disturbing morphogenesis, but also by the development of reactive pathological processes - alteration, complete and incomplete tissue regeneration, inflammation, immunomorphological and compensatory-adaptive shifts.

The second regularity, characteristic of the pathology of the late periods of kimatogenesis is a combination of morphogenetic disorders with other pathological processes, for example, heart malformations with hyperplasia of mesenchymal tissues, cerebral malformations with the presence of necrosis, hemorrhages, etc.

The third regularity, determining the pathogenesis of any of the periods of kimatogenesis and of great importance in the development of one or another pathological state of the embryo is the time of exposure to the pathogenic agent.

So, during the period of blastogenesis, the embryo responds to any impact with a violation of the implantation of a fertilized egg or the development of an embryo- and trophoblast. During the period of embryogenesis, when the main morphogenesis of the internal organs and parts of the embryo's body is carried out, almost any damage leads to the development of one or another congenital defect or to the death of the embryo.

During the period of fetogenesis, when tissue differentiation of organs is carried out, almost any damage leads to the development of defects at the tissue level.

According to Russian embryologists, prenatal death of the embryo is more often observed at certain periods of its intrauterine life. For the embryo,

hoarding and humans, such periods of particularly high sensitivity to pathogenic agents are the implantation of a fertilized egg into the uterine mucosa, which corresponds to 14 days of intrauterine development, and placentation is the beginning of the formation of the placenta, which corresponds to the 3-6th week of intrauterine development. These two periods of the greatest sensitivity of the embryo to the effects of damaging agents are called the first and second critical periods.

The factors causing developmental defects are called teratogenic(from the Greek. teratos- ugliness). It turned out that different teratogenic agents can lead to the same malformation depending on the time of exposure to the embryo; for example, the influence of radiation energy and quinine at the 3rd week of intrauterine development leads to disturbances in the formation of the neural tube of the embryo.

At the same time, the same teratogenic agent can cause different malformations by acting at different times of embryogenesis.

It is known that when the embryo is damaged by the rubella virus, rubeolar embryopathy (Gregg's syndrome) occurs, which consists in malformations of the eyes, heart, brain, dental germs and inner ear. At the same time, eye malformations (cataracts, microphthalmia, etc.) appear in cases where the mother suffers rubella in the last decade of the first month or in the first two decades

II month of pregnancy, malformations of the brain (microcephaly) - during the entire II month, the inner ear - in the third decade of the II month and in the first decade

III month of pregnancy.

For each organ, there is a certain period of time during which, when exposed to a teratogenic agent, a malformation of this organ occurs. This period of time was named teratogenic termination period (from lat. teratos- ugliness and terminus- limit, border), i.e. the maximum period during which a teratogenic factor can cause a congenital malformation (Fig. 292). Using the data of embryology, one can judge the timing of the onset of a particular malformation and draw up the so-called teratological descriptions.

Rice. 292. Schematic representation of the teratogenic termination period of individual organs and body parts (according to Gertler)

lendarii for malformations of various organs. As the data of experimental teratology show, the higher the mitotic activity of developing tissues, the more sensitive they are to the effects of a teratogenic agent.

However, it should be borne in mind that a damaging agent may have a greater or lesser affinity for certain tissue rudiments, which sometimes determines some specific features characteristic of a certain pathogenic agent.

So, from 1957 to 1964, the so-called thalidomide catastrophe took place in Germany and other countries of the world. Thalidomide has been used as a sedative (sleeping pill). It turned out that small doses of this agent are dangerous for the human embryo; they have no effect on animals. Many women who took thalidomide in the second month of pregnancy gave birth to children with severe malformations of the limbs - amelia, phocomelia. In 40% of cases, the upper limbs were affected, in 10% - the lower ones, in 20% - the upper and lower limbs, in 20% - the limbs (upper and lower), the organs of hearing and vision (data from 1961 and 1962). According to 1964 data, in 45% of cases thalidomide embryopathies proceeded with malformations of internal organs. From the above observation, it can be seen that thalidomide has a special tropism for the developing anlages of the extremities.

In addition to disturbances in morphogenesis, it was possible to show that the embryo can exhibit resorption of its necrotic tissues, tissue edema, hemorrhage, and at the end of embryogenesis even incomplete regeneration with the formation of scars. It should be borne in mind that the death of tissue primordia is also observed during the normal course of morphogenesis, for example, with the fusion of individual primordia, the formation of cavities in them, rupture of membranes (pharyngeal, cloacal), etc. However, in terms of volume and nature, the process of physiological cell death differs from necrosis in pathological conditions , it is not accompanied by scarring, and most importantly does not lead to a violation of the formation processes. Extensive necrosis of embryonic tissue with scarring appears, probably in embryopathies caused by the action of exogenous agents. With genotypic malformations, there is no significant alteration of organ rudiments, but there is only a delay in the processes of differentiation of the rudiments.

In the overwhelming majority of cases, the morphology of the existing malformation is nonspecific. Therefore, it is impossible to distinguish genotypic defect from phenocopy 1 in appearance. The main manifestation of the pathology of the embryonic period is dysontogenesis in the form of congenital malformations of organs or parts of the body of the embryo.

To fetal period, the main organogenesis ends and further height and differentiation of fetal tissues.

In the early fetal period, organogenesis of the cerebral hemispheres and the central organ of immunogenesis - the thymus

1 Phenocopy - a developmental defect arising under the influence of exogenous agents, morphologically identical to the genotypic defect.

glands, therefore, in this period, malformations of the brain and a delay in the maturation of thymic tissues may occur.

In addition to dysontogenesis, other pathological processes sometimes occur in the fetus, since its reactive capabilities increase in comparison with the embryo. The fetus has alterative changes, reduced inflammation (see. Inflammation), immunomorphological changes (see. Immunopathological processes), disorders of blood and lymph circulation, hyperplasia and regeneration. Therefore, in the fetal period, there are diseases similar to those of the extrauterine period. For fetal diseases - fetopathies - the following features are characteristic.

1. Any painful form in the fetal period is combined with a violation of ontogenesis, but at the tissue level. In this case, there may be either incorrect proportions of organ tissues, or a delay in their maturation. For example, for megaduodenum, megacolon there is an excessive development of muscle tissue in the intestinal wall in the absence of sufficiently developed neural devices in it; there is a delay in the maturation of the kidneys with an abundance of embryonic type of glomeruli (Fig. 293), etc.

2. With infectious fetopathies, generalized damage to the tissues and organs of the fetus is always noted. Typically, the presence of multiple foci of predominantly alterative inflammation in the parenchymal organs or generalized granulomatosis (for example, with congenital syphilis, listeriosis).

3. As a rule, a pronounced hemorrhagic syndrome develops with petechial rashes on the skin, mucous membranes, and hemorrhages in internal organs.

Rice. 293. Germ-type glomeruli in the kidney cortex in a 7-day-old boy

4. There is a delay in involution and excessive proliferation of cells in the foci of extramedullary hematopoiesis with their appearance outside the optional hematopoietic organs. In a mature healthy fetus, by the time of delivery, the foci of extramedullary hematopoiesis are reduced.

5. The processes of hypertrophy and regeneration proceed with a predominance of hyperplasia of mesenchymal tissues, which leads to excessive development of connective tissue (for example, in the urinary tract with megaureter with a simultaneous loss of muscle fibers; with cystic fibrosis - in the pancreas; with fibroelastosis of the heart - with excessive development of elastic and fibrous tissues in the endocardium, etc.).

The pathogenesis of the listed features of fetal diseases is closely related to the structure and functional immaturity of its tissues and organs that regulate their functions.

Therefore, the listed features of diseases of the fetal period force them to be distinguished in comparison with diseases of the extrauterine period into a special group of fetopathies.

Diseases of progenesis and kimatogenesis

Gametopathies

Gametopathies is a gamete pathology. These include any damage to the egg and sperm during ovo- and spermatogenesis before fertilization. The concept of "gametopathy" covers all types of damage to the male and female gametes: gene mutations and the occurrence of hereditary diseases and hereditary malformations, chromosomal aberrations with the occurrence of more often not inherited chromosomal diseases, genomic mutations - changes in the number of gamete chromosomes, usually leading to spontaneous abortion or chromosomal disease ... In addition, it should be borne in mind that severe damage not only to the nucleus, but also to the cytoplasm of the gametes becomes the source of their death with the development of sterility and infertility or spontaneous abortions and miscarriages. It follows from this that gametopathies are one of the factors of intrauterine mortality, which is not yet amenable to accurate registration.

If the nucleus of the gamete is damaged, changes in the genetic apparatus can occur. Changes in genes, their mutations lead to the consolidation of these changes in subsequent cell generations. It should be borne in mind that gametes are carriers of genes inherited by them from all distant ancestors. Therefore, the concept of gametopathy includes the defeat of not only the gametes of the parents, but also the more distant ancestors of the proband. A gamete with a defect in a gene or genes can become a source of hereditary malformations or diseases that manifest themselves at different stages of intrauterine and extrauterine development.

Gene defects and diseases can be inherited by autosomal recessive, autosomal dominant types or the mutant gene may be linked to the sex X chromosome. With an autosomal recessive type of inheritance in a proband

the defect is eliminated only if the mutant gene was obtained from both the father and the mother. The parents of the proband themselves can be healthy, being only heterozygous carriers of the mutant gene. In the autosomal dominant mode of inheritance, the mutant gene is transmitted from the father or from the mother, who themselves suffer from a similar defect.

Defects whose genes are localized on the X chromosome, in turn, can be inherited in a recessive or dominant manner. Defects linked to the X chromosome, transmitted in a recessive manner, are usually observed in boys, since their only X chromosome is affected. The mutant gene is passed on by a non-sick mother. It is very rare for a girl to be a bearer of a vice. This happens if the father was sick, and the mother was the carrier of the mutant gene.

In addition to local damage to the genetic apparatus of the gamete nucleus due to gene mutations, mutations of chromosomes may appear during gametogenesis in the form of changes in their number and structure. Chromosome mutations are named chromosomal aberrations. Chromosomal aberrations occur most often at the time of the reduction division of gametes. Their consequence is chromosomal diseases, which, however, in most cases are not inherited, since their carriers more often die in childhood or are infertile.

Typical examples of chromosomal disorders are Down's disease(trisomy for the 21st pair of autosomes), Patau syndrome(trisomy for the 13-15th pair of autosomes), Shereshevsky-Turner syndrome(sex chromosome monosomy - 45 HO), etc.

Down's disease observed in newborns in a ratio of 1: 600, 1: 700, occurs most often. Clinically, children have a marked retardation of mental and physical development from birth. Patients have a typical appearance: an oblique section of the eyes, a sinking nasal bridge, a high palate, a low location of small auricles, pronounced muscle hypotonia. Children die more often from intercurrent diseases. Most of them have malformations of the heart and great vessels (tetrad of Fallot, etc.), less often malformations of the digestive and genitourinary systems. These children have underdevelopment of the cerebral hemispheres, especially its frontal lobes with delayed differentiation of neurons, impaired myelination processes, and the architectonics of the blood vessels of the brain.

Patau syndrome in newborns and stillborns, it occurs with a frequency of 1 in 5149 births. Characterized by pronounced general hypoplasia, anomalies of the skull and face: a low sloping forehead, narrow eye slits, sunken nose, wide base of the nose, hypotelorism, "scalp defects", low deformed auricles, typical clefts of the upper lip and palate. Polydactyly and flexor position of the hands, microphthalmia, coloboma and corneal opacity are noted. On the part of the brain, microcephaly, arineencephaly (absence of the olfactory brain), aplasia or hypoplasia of the cerebellar worm, etc. are noted. Congenital defects of the heart, digestive system, urinary system, etc. are also noted. Children are not viable.

Blastopathies

Blastopathy- blastocyst pathology that occurs during the period of nidation and cleavage in the first 15 days from the moment of fertilization to the isolation of embryo and trophoblast.

Etiology and pathogenesis. The cause of blastopathy is most often chromosomal aberrations in combination with environmental influences (endocrine diseases of the mother, hypoxia, etc.). Pathogenesis depends on the type of blastocyst lesion. So, for example, the pathogenesis of twin deformities is associated with the appearance during crushing of two or more independently growing centers. It is believed that if these centers are disconnected from each other, then two independently growing identical twins develop, the normal development of which should not be attributed to blastopathies. If the growth centers are located close and have an intermediate zone common for two twins, then two accrete twin. In both cases, development is possible symmetrical and asymmetric twins.

The morphology of blastopathy is diverse. These include disorders of blastocyst implantation, namely ectopic pregnancy, superficial or very deep implantation of a blastocyst into the endometrium, disorientation of the developing embryoblast in the blastocyst in relation to the endometrium, aplasia or death of the developing embryoblast with the formation of an empty embryo sac, malformations of the entire embryo, some solitary defects, twin deformities and, finally, aplasia or hypoplasia of the forming trophoblast - amnion, amniotic leg, yolk sac. Superficial or overly deep implantation of blastocyst leads to malformations of shape, localization, as well as placental accreta (see below), which are fraught with fetal death during the act of childbirth. Embryoblast orientation disorders with complete topographic inversion, they end in the death of the embryoblast. With incomplete inversion, umbilical cord malformations are observed (see below), which can lead to fetal death during childbirth. Empty embryo sacs are blastocysts that do not contain an embryoblast or contain its remnants. Sometimes they can find amniotic membranes, umbilical cord, yolk sac.

Developmental pathology Total embryo is a general, severe disorder that is incompatible with life.

Single and multiple malformations that occur during the blastula period (in the first 8-12 weeks) are found in 14.3-22.9% of all spontaneously aborted embryos. Moreover, in 46.2% of cases, they are accompanied by anomalies of the placenta. This combination often leads to the death of the embryo.

Twin deformities are found in the form of accrete twins. If the fused twins consist of equal symmetrically developed components, it is called diplopagus (diplopagus from the Greek. diplos- double, agus- connect); if it consists of asymmetrically developed com-

Twin deformities are combined with non-vitality. In rare cases, a significant life span of such twins has been described until adulthood. In mild cases of only soft tissue adhesions, surgical correction is possible.

Embryopathies

Embryopathy- pathology of the embryonic period from the 16th day of pregnancy to the 75th day inclusive, during which the main organogenesis ends and the formation of the amnion and chorion. The main types of embryopathies include congenital malformations.

Congenital malformation is called a persistent morphological change in an organ, part of the body or the whole organism, which goes beyond the variations in the normal structure of a certain biological species, arising in utero as a result of disturbances in morphogenesis. Since organogenesis ends mainly in the embryonic period, most malformations appear precisely at this stage of intrauterine existence. However, in addition to congenital malformations with disorders of the basic morphogenesis of organs or body parts, there are congenital malformations in which developmental disorders are observed at the level of tissue differentiation. They are often systemic, for example, malformations of striated muscles (congenital Oppenheim's myatonia), connective tissue (Marfan's disease), skin (congenital ichthyosis), cartilaginous bones (congenital chondrodysplasia), etc. Malformations can also affect tissues of one organ, for example, hypoplasia smooth muscle tissue with megaureter, nervous intramural apparatus - with megacolon, lung tissue - with cystic lung, etc. According to the timing of occurrence, these defects are early fetopathies. Early fetopathies are often associated with embryopathies; for example, congenital ichthyosis and chondrodysplasia - with malformations of the face, Marfan's disease - with malformations of the face and aorta, etc. The frequency of congenital malformations, according to WHO, is 1.3% of the total number of births.

Any congenital defect can manifest itself in the form of: 1) the absence of any organ or part of the body (agenesis, aplasia); 2) underdevelopment of the organ (hypoplasia); 3) excessive development (hyperplasia) or the presence of an excessive number of organs (doubling, etc.); 4) changes in shape (fusion of organs, atresia, stenosis of holes, canals, dysraphia - non-closure of embryonic fissures, exstrophy - eversion, etc.); 5) changes

in the location of organs (ectopia); 6) persistence of embryonic provisional (preexisting) organs.

Classification. Congenital malformations are divided according to the degree of prevalence in the body, according to localization in a particular organ, according to etiology. By prevalence congenital defects can be: 1) isolated - with damage to one organ; 2) systemic - with damage to several organs of one of the systems; 3) multiple - with damage to organs of different systems. By localization distinguish between malformations of the central nervous, cardiovascular, digestive, genitourinary and other systems. Congenital malformations of the named localization are of the greatest importance in pathology. Most often, malformations of the central nervous and cardiovascular systems are encountered, since it is these systems that have the greatest teratogenic termination period (see Fig. 292). Isolated malformations are more common than multiple, despite the fact that the teratogenic termination period for many organs coincides in time.

The most perfect is the classification of malformations according to etiology, however, the level of modern knowledge does not yet allow adhering to it. However, certain types of systemic and multiple congenital malformations associated with a specific etiology are known, for example, rubeolar embryopathy, alcoholic, thalidomide embryopathy, etc., as well as hereditary genotypic congenital defects and congenital defects due to chromosomal aberrations; the latter, as a rule, are plural.

Differentiation of genotypic congenital defects with their phenocopies is possible using the genealogical method of studying the pedigree, the cytogenetic method, which makes it possible to study the karyotype of the tissues of the defect carrier during their cultivation, using the twin method based on the frequency of detecting congenital defects in identical twins and the dermatoglyphics method - studying a complex of skin patterns located on the palms, soles and flexor surface of the fingers, which is used for the urgent diagnosis of chromosomal diseases.

Congenital malformations of the central nervous system

Congenital malformations of the central nervous system in frequency they rank first among other defects, occur in 30% of cases among developmental defects found in children.

Etiology and pathogenesis. Of the exogenous factors, the value of rubella virus, human immunodeficiency, herpes simplex is precisely established, the influence of cytomegalovirus, Coxsackie viruses, drugs (quinine, hydantoin, etc.), alcohol, radiation energy, hypoxia is assumed. Gene mutations are of undoubted importance; in chromosomal diseases, they are found almost as a rule among multiple defects. The development of the defect is associated with the effect of a damaging agent throughout the entire embryonic period, including the early fetal period.

The most severe defects occur when damage occurs at the beginning of the laying of the neural tube (3-4 weeks of intrauterine life).

Pathological anatomy. The main most severe types of congenital malformations of the central nervous system include the following. Anencephaly- agenesis of the brain, in which the anterior, middle, and sometimes posterior parts of it are absent. The medulla oblongata and spinal cord are preserved. In place of the brain, connective tissue is found, rich in vessels, in which individual neurons and neuroglia cells meet. Anencephaly is combined with acrania - the absence of the bones of the cranial vault covering their soft tissues and skin.

Microcephaly- hypoplasia of the brain, a decrease in its mass and volume; combined with a simultaneous decrease in the volume of the cranium and thickening of the bones of the skull; different degrees of severity of this defect are possible. Microgyria- an increase in the number of cerebral convolutions along with a decrease in their size.

Porencephaly- the appearance of cysts of various sizes in the brain, communicating with the lateral ventricles of the brain, lined with ependyma. A false porencephaly should be distinguished from true porencephaly, in which cysts do not communicate with the outflow pathways of the cerebrospinal fluid and are formed at the site of the former softening of the brain tissue.

Congenital hydrocephalus- excessive accumulation of cerebrospinal fluid in the ventricles of the brain (internal hydrocephalus) or in the subarachnoid spaces (external hydrocephalus) (Fig. 294) is accompanied by an increase in the cerebral skull and its sharp discrepancy with the facial one - the face seems small, the forehead - overhanging. There is a discrepancy and

Rice. 294. Hydrocephalus (according to A.V. Zinserling)

thinning of the bones of the skull, bulging fontanelles. Atrophy of the substance of the brain increases, in most cases associated with impaired outflow of cerebrospinal fluid due to stenosis, bifurcation or atresia of the cerebral aqueduct (Sylvian aqueduct), atresia of the median and lateral openings of the IV ventricle and interventricular opening.

Cyclopia- a rare defect characterized by the presence of one or two eyeballs located in one orbit, with a simultaneous malformation of the nose and the olfactory lobe of the brain. Named because of the similarity of the face of the fetus with the face of the mythical monster - the Cyclops.

Head hernia and spinal cord are protrusions of the substance of the brain and its membranes through defects in the bones of the skull, their seams and the spinal canal. Hernias of the brain: if there are only the membranes of the brain and cerebrospinal fluid in the hernial sac, they are called meningocele, membranes and substances of the brain - meningoencephalocele, substances of the brain and cerebral ventricles - encephalocystocele. More common are hernias of the spinal cord, associated with the splitting of the dorsal vertebrae, which are called spina bifida. Hernias of the spinal cord, like the brain, depending on the contents of the hernial sac, can be divided into meningocele, myelocele, meningomyelocele. Very rare rachioschiz- complete defect of the posterior wall of the spinal canal, soft tissues, skin and meninges; while the spinal cord is spread open on the front wall of the canal, there is no protrusion.

Forecast with congenital malformations of the central nervous system, it is unfavorable, most of them are incompatible with life. Surgical correction is effective only in some cases of cerebral and spinal hernias. Children often die from the addition of intercurrent infectious diseases. Cerebral and spinal hernias are complicated by a purulent infection with the development of purulent meningitis and meningoencephalitis.

Congenital heart disease

Congenital heart disease in frequency they rank second after malformations of the central nervous system. According to different authors, they are found in 16-40% of other defects and in 3-8% of cases according to the autopsy data of children who died in the perinatal period.

Etiology and pathogenesis. The causes of these defects are varied and are not associated with the influence of any specific exogenous factors. Gene mutations and chromosomal aberrations are of undoubted importance. Among the multiple defects observed in chromosomal diseases, heart defects are less common than defects of the central nervous system. The development of the defect is associated with the effect of a damaging agent on the embryo from the 3rd to the 11th week of intrauterine development. Various types of defects depend on the distortion of the stages of morphogenesis of the heart, of which the main ones are defects of the originally paired anlages of the heart, irregular bends of the primary heart tube, developmental delay or improper location of the heart septa dividing it and the arterial trunk into

right and left halves, persistence of atrioventricular connections existing during intrauterine life.

Pathological anatomy. With congenital heart defects, in the process of myocardial hypertrophy in children at the age of the first 3 months of life, not only an increase in the volume of muscle fibers with hyperplasia of their ultrastructures is involved, but also true hyperplasia of cardiomyocytes. At the same time, hyperplasia of reticulin argyrophilic fibers of the heart stroma develops. Subsequent dystrophic changes in the myocardium and stroma, up to the development of micronecrosis, lead to a gradual proliferation of connective tissue and the emergence of diffuse and focal cardiosclerosis.

Compensatory restructuring of the vascular bed of the hypertrophied heart is accompanied by an increase in intramural vessels, arterio-venous anastomoses, and the smallest veins (the so-called Viessen-Tebezia vessels) of the heart. In connection with sclerotic changes in the myocardium, as well as increased blood flow in its cavities, a thickening of the endocardium appears due to the growth of elastic and collagen fibers in it. Reconstruction of the vascular bed also develops in the lungs. In children with congenital heart defects, general physical development is retarded.

Death occurs in the first days of life from hypoxia in especially severe forms of defects or later from the development of heart failure. With the progress of thoracic surgery, it became possible to treat many congenital defects using surgical correction and prosthetics, which markedly changed the course and outcomes of congenital heart defects in children. Due to the complexity of the processes of embryogenesis of the heart, its congenital defects are diverse. However, most of them are associated with abnormal communications between the pulmonary and large circulatory systems, constrictions in these systems or with the absence of normal communications between them, up to a complete separation of the pulmonary and large circulatory systems incompatible with life. Depending on the degree of hypoxia caused by a decrease in blood flow in the pulmonary circulation and the direction of blood flow through abnormal pathways between the pulmonary and large circulation, heart defects can be divided into two main types - blue and White. With vices blue type there is a decrease in blood flow in the pulmonary circulation, hypoxia and the direction of blood flow along an abnormal path - from right to left. With vices white type hypoxia is absent, the direction of blood flow is from left to right. However, this division is schematic and not always applicable to all types of congenital heart defects.

Congenital defects with violation of the division of the cavities of the heart.Ventricular septal defect occurs often, its occurrence depends on the growth retardation of one of the structures that form the septum, as a result of which an abnormal communication develops between the ventricles. More often there is a defect in the upper connective tissue (membranous) part of the septum (Fig. 295). Blood flow through the defect

Rice. 295. Defect in the interventricular septum of the heart (according to A.V. Tsinserling)

is carried out from left to right, therefore cyanosis and hypoxia are not observed (white type of defect). The degree of the defect can vary, up to the complete absence of the septum. With a significant defect, hypertrophy of the right ventricle of the heart develops, with an insignificant one, no significant changes in hemodynamics occur.

Atrial septal defect in the form of an isolated defect is rare. It occurs either with violations of the development of the primary atrial septum at the 5th week of embryogenesis, or later, with the formation of the secondary septum and foramen ovale. Primary septal defect has the form of an opening located directly above the valves of the ventricles; in case of a defect secondary septum there is a wide open oval hole, devoid of a flap. In either case, the blood flow occurs from left to right, there is no hypoxia and cyanosis (white type of defect). Overflow of blood to the right half of the heart is accompanied by hypertrophy of the right ventricle and expansion of the trunk and branches of the pulmonary artery. The complete absence of interventricular or interatrial septa leads to the development of a three-chambered heart - a severe defect, in which, however, during the compensation period, complete mixing of arterial and venous blood is not observed, since the main flow of one or another blood retains its direction and therefore the degree of hypoxia increases as decompensation progression.

Congenital heart defects with disorders of the division of the arterial trunk. The common arterial trunk in the complete absence of division of the arterial trunk is rare. With this defect, one common arterial

the trunk originates from both ventricles, at the exit there are 4 semilunar valves or less; the defect is often combined with a defect of the interventricular septum. The pulmonary arteries branch off from the common trunk near the valves, to the branches of the large vessels of the head and neck, they may be completely absent, and then the lungs receive blood from the dilated bronchial arteries. With this defect, severe hypoxia and cyanosis (blue type of defect) are observed, children are not viable.

Complete transposition of the pulmonary artery and aorta occurs with the wrong direction of growth of the septum of the arterial trunk, when it does not grow in a spiral, but in the direction opposite to the rest, normally developing parts of the heart. In this defect, the aorta is placed in front and to the right of the right ventricle of the heart, the pulmonary artery lies behind the aorta and departs from the left ventricle. Arterial blood can enter the systemic circulation only with defects in the septa of the heart or with non-closure of the arterial (botallov's) duct and foramen ovale. The defect is accompanied by severe hypoxia and cyanosis (blue type of defect).

The myocardium suffers significantly, since the coronary arteries do not receive arterial blood. Children are not viable.

Stenosis and pulmonary atresia observed when the septum of the arterial trunk is displaced to the right, often combined with a defect of the interventricular septum and other defects. With a significant narrowing of the pulmonary artery, blood enters the lungs through the arterial (botall) duct and expanding bronchial arteries. The defect is accompanied by hypoxia and severe cyanosis (blue type of defect).

Aortic stenosis and atresia are a consequence of the displacement of the septum of the arterial trunk to the left. They are less common than displacement of the septum to the right, often accompanied by hypoplasia of the left ventricle of the heart. In this case, there is a sharp degree of hypertrophy of the right ventricle of the heart, expansion of the right atrium and a sharp general cyanosis. Children are not viable.

Narrowing of the aortic isthmus (coarctation) up to its atresia, it is compensated by the development of collateral circulation through the intercostal arteries, arteries of the chest and sharp hypertrophy of the left ventricle of the heart.

Non-clogging of the arterial (botallov) duct can be considered a defect if it is present with a simultaneous expansion in children over 3 months of age. In this case, the blood flow is carried out from left to right (white type of defect). An isolated defect lends itself well to surgical correction.

Combined congenital heart defects. Among the combined vices, the triad, tetrad and pentad of Fallot are more common. Fallot Triad has 3 signs: a defect of the interventricular septum, stenosis of the pulmonary artery and, as a consequence, hypertrophy of the right ventricle. Fallot's tetrad has 4 signs: defect of the interventricular septum,

constriction of the pulmonary artery, dextraposition of the aorta (displacement of the orifice of the aorta to the right) and hypertrophy of the right ventricle of the heart. Pentad of Fallot, in addition to these four, includes the 5th sign - atrial septal defect. The most common tetrad of Fallot (40-50% of all congenital heart defects). For all defects of the Fallot type, blood flow from right to left, a decrease in blood flow in the pulmonary circulation, hypoxia and cyanosis (blue type of defects) are noted. Rarer combined congenital defects include ventricular septal defect with left atrioventricular stenosis (Lyutambashe disease), ventricular septal defect and aortic dextraposition (Eisenmenger's disease) and a branching of the left coronary artery from the pulmonary trunk (Bland-Garland-White syndrome) pulmonary hypertension (Aerz's disease), depending on the hypertrophy of the muscular layer of the vessels of the lung (small arteries, veins and venules), etc.

Congenital malformations of the digestive system occur in 3-4% of autopsies in the perinatal period and account for 21% of all congenital malformations of this period. They most often represent atresia and stenosis of the digestive tract.

Etiology and pathogenesis. Anal atresia, like other defects of the caudal end of the embryo, is more common in diabetic embryopathy. In general, the origin of these defects is different.

Pathogenesis is associated with a violation of the formation of holes in the digestive tube in the period from the 4th to the 8th week of intrauterine development, since at first this tube ends blindly at both ends. The delay in recanalization is also important, since at the 8th week of intrauterine life, the growing epithelium completely closes the lumen of the intestinal tube, which is subsequently restored during the formation of the mucous membrane.

Atresia and stenoses more often observed in the esophagus, duodenum, proximal skinny and distal segment the ileum, in the area of rectum and anal opening. They are rare in the colon. In addition, in the esophagus, tracheoesophageal fistula(Fig. 296), the formation of which depends on the violation of the division of the primary intestine into the esophagus and trachea. These fistulas lead to the development of severe aspiration pneumonia. Intestinal atresia can be single or multiple, and with the latter, the intestine resembles a "bunch of sausages." In the area of ​​atresia, the intestine looks like a dense connective tissue cord, which, under the influence of peristalsis, can stretch and rupture, which leads to perforated peritonitis in the first days of a newborn's life.

Atresia and stenosis of the rectum and anus can be observed in different ways: 1) anal atresia only- with normal development, the rectum is separated from it by a membrane; 2) rectal atresia only- the anus leads to a short blind canal,

Rice. 296. Tracheoesophageal fistula. The upper segment ends blindly, sharply widened; the lower segment opens into the trachea in the area of ​​its bifurcation (according to A.V. Zinserling)

above it lies the cord of the underdeveloped rectum; 3) anal atresia and rectum- the anus is absent, the blind end of the rectum is located high; 4) fistulous atresia- The rectum opens into the bladder, urethra, vagina, scrotum, perineum and other organs of the genitourinary system.

Doubling of individual sections of the intestine most often concerns only the mucous membrane, the muscular membrane is common. The duplicated area can be in the form of a cyst, diverticulum, or tube. The defect is complicated by bleeding, inflammation, necrosis with perforation.

Hirschsprung's disease(refers to early fetopathies) - segmental agangliosis, megacolon- the absence of neurons in the intermuscular (so-called Auerbach) plexus of the lower segment of the sigmoid and rectum. Due to the preservation of the submucosa (so

called Meissner), the plexus of the aganglionic section of the intestine is spasmodically reduced, above it there is a stretching of the intestine with meconium or feces with the development of subsequent compensatory hypertrophy of the muscular membrane; ulceration is sometimes observed in a stretched segment. Patients suffer from constipation, obstruction develops.

Hypertrophic pyloric stenosis(refers to early fetopathies) - congenital hypertrophy of the muscles of the pyloric stomach with a narrowing of its lumen; the most common congenital malformation of the stomach, the etiology and pathogenesis of which have not been clarified. It occurs in 0.3% of newborns, in boys - 5-7 times more often. The family character of the disease is noted. Instead of a normal pyloric ring, there is a tube with a narrow lumen and thick, dense walls that protrudes into the duodenum. Persistent vomiting is observed, starting from the 3-4th week of life, up to the development of a coma from the loss of chlorides. Surgical treatment leads to a complete cure.

Digestive tract defects associated with the preservation of some embryonic structures. These include a hernia of the navel, cysts and fistulas of the umbilical ring and Meckel's diverticulum.

Hernia of the navel- defect of the anterior abdominal wall in the umbilicus with protrusion of a translucent hernial sac formed by the umbilical cord and amnion, containing loops of the small intestine. The defect occurs due to the fact that the intestinal loops do not pass into the abdominal cavity at the 8-10th week of intrauterine development. Amenable to surgical treatment. It should be distinguished from eventration of the abdominal organs with its hypoplasia, in which the abdominal wall is wide open, the hernial sac is absent, surgical treatment is ineffective. Cysts and fistulas areas of the umbilical ring are formed due to the persistence of the yolk duct, which connects the intestinal tube to the yolk sac in the early stages of intrauterine development. If the duct is completely saved, a umbilical fistula, from which the feces are allocated to the outside. If it is partially preserved, an intestinal cyst forms in the navel - enterocystoma, partial preservation of the duct in the intestinal region leads to the formation Meckel diverticulum- a finger-like protrusion of the wall of the ileum, usually located 25 cm above the ileal cecum (the so-called bauhinia) valve. Between them and the umbilical ring, the remainder of the vitelline duct is sometimes preserved in the form of a connective tissue cord. All these defects can lead to bleeding, inflammation, including peritonitis, obstruction, intussusception; are subject to surgical treatment.

Congenital malformations of the liver and biliary tract.Polycystic liver disease- multiple cysts of different sizes, lined with epithelium and filled with a clear liquid, - is rare, often combined with polycystic kidney and pancreas.

Atresia and extrahepatic bile duct stenosis can occur in one or all three ducts. Agenesis and hypoplasia of intrahepatic bile ducts(refers to early fetopathies) - a decrease in the number or complete absence of bile ducts in the portal tract in the area of ​​the triads. The etiology is associated with the hepatitis virus. Family cases have been reported. It is considered as a consequence of violations of the formation of ducts from the hepatic diverticulum (5-8th week) or delayed recanalization (8th week of intrauterine development). Jaundice is very intense, develops on the 3-5th day of life, the defect leads to biliary cirrhosis of the liver. With agenesis and hypoplasia of the intrahepatic ducts, the development of congenital, biliary cirrhosis is possible. Children live up to 6-7 months. With congenital cirrhosis, they die in the first days of life from liver failure.

Congenital hyperplasia of the intrahepatic bile ducts(refers to early fetopathies) - a bizarre proliferation of bile ducts in the area of ​​the portal tract with excessive development of connective tissue - combined with small cystic kidneys. Jaundice is uncharacteristic, it appears in the case of the addition of secondary purulent cholangitis. This defect occurs in adults as well. When combined with small renal cystic disease, death occurs from renal failure in the first days of life.

Congenital malformations of the kidneys, urinary tract and genitals

Etiology. The development of defects is not associated with the action of certain exogenous agents. Many of them are hereditary or familial. They are found in chromosomal syndromes. These defects are diverse and occur during the 4-8th week of cymatogenesis.

Congenital malformations of the kidneys.Renal agenesis- congenital absence of one or both kidneys (arenia) - is rare, while the newborn has a wrinkled skin, a puffy, senile face, the ears are low, the nose is wide and flat, the frontal tubercles protrude; congenital defects of other organs are observed. Children are not viable.

Renal hypoplasia- congenital decrease in their mass and volume, can be one- and two-sided; with unilateral hypoplasia, vicarious hypertrophy of the second normal kidney is observed.

Kidney dysplasia- hypoplasia with the simultaneous presence of embryonic tissues in the kidneys. Microscopically, nephroblastoma foci, primitive tubules and glomeruli, cysts, islets of cartilage and smooth muscle tissue are found in the kidney tissue. Combined with aplasia, hypoplasia or atresia and ureteral stenosis. With bilateral pronounced hypoplasia and renal dysplasia, children are not viable.

Large cystic kidneys(adult polycystic kidney disease) - a bilateral significant enlargement of the kidneys with the formation in their cortical layer of a large number of large cysts with transparent contents, between the cysts - areas of normal renal tissue (Fig. 297). The defect is combined with cysts of the liver and pancreas, and is inherited in a dominant manner. Its pathogenesis is associated with a violation of the connection of the rudiments of metanephrogenic tissue and the urethral tube, retention cysts are formed.

Rice. 297. Polycystic kidney (macrocystosis)

Small cystic kidneys(polycystic "infantile" type) - bilateral significant enlargement of the kidneys with the formation of numerous small cysts in the cortical and medullary layers, closely adjacent to each other. The kidneys look like a large-porous sponge. On microscopic examination, the entire renal tissue looks completely replaced by cysts lined with cubic epithelium. The defect is combined with liver cysts and hyperplasia of the bile ducts. Children are not viable.

Fusion of the kidneys(horseshoe kidney) and dystopia are not clinically apparent.

Congenital malformations of the urinary tract. The main ones are: 1) doubling of the pelvis and ureters; 2) agenesis, atresia, stenosis of the ureters, ectopia of their mouths; 3) megaloureter refers to early fetopathies - a sharp expansion of the ureter (one or two) due to hypoplasia of muscle tissue or nervous apparatus; 4) exstrophy of the bladder as a result of aplasia of its anterior wall, peritoneum and skin in the pubic region; 5) agenesis of the bladder; 6) atresia, stenosis of the urethra (more often in girls) and hypospadias - a defect of the lower wall, epispadias - a defect in the upper wall of the urethra in boys.

All defects of the urinary tract lead to impaired outflow of urine and, without timely surgical treatment, which is currently successfully performed, lead to renal failure. The most severe of them (for example, agenesis, atresia of the urinary tract) lead to death from uremia soon after birth, others may not manifest clinically for a long time, but gradually lead to hydronephrosis, sometimes to the formation of stones, the onset of ascending chronic pyelonephritis, which threatens the development of renal failure , ending with the death of the patient (usually at 20-30 years old) from uremia.

Congenital malformations of the genital organs. They are often associated with diseases of the endocrine glands (adrenal glands, pituitary gland) of the mother and the fetus, with the intake of hormonal drugs during pregnancy; established hereditary transmission in a recessive manner. These include: cryptorchidism- retention of the testicles in the abdominal cavity or in the inguinal canal (in newborns it should not be considered a defect, since they have cryptorchidism in 30% of cases, by the age of 12-16 it is observed only in 2-3% of cases and then it is regarded as a defect); cervical atresia and vagina, doubling of the uterus; hermaphroditism- the presence of signs of both sexes in one person. Distinguish true hermaphroditism - the simultaneous presence of female and male sex glands and false - the external genital organs of the sex opposite to the sex glands. Genital malformations are not life threatening, in some cases surgical treatment is possible.

Congenital malformations of the respiratory system are often combined with other defects and are found in 4.2% of those who died in the perinatal period, in 3% of children who died before 1 year.

Aplasia and bronchial hypoplasia and lungs, one lung or its lobes are more common. Lung hypoplasia is predominantly secondary when chest dysplasia occurs.

Lung cysts(refer to early and late fetopathies) can be multiple (polycystic lung disease), located in one lung, in one lobe, or be single. Cysts have different origins - they are formed during agenesis of one of the bronchial branching orders. In the first case, gas exchange is not carried out, since the blindly ending branches of the bronchi are surrounded by connective tissue. In the second case, large and medium bronchi pass directly into the lung tissue or bronchioles. In the postnatal period, the established act of breathing leads to ectasia of bronchial cysts with the development of the so-called congenital bronchiectasis(fig. 298).

Congenital emphysema(refers to early and late fetopathies) - a sharp swelling more often of the upper lobe of the left lung due to hypoplasia of cartilage, elastic and muscle tissues of the bronchi. It causes the displacement of the mediastinal organs in the opposite direction. The defect is detected only in the postnatal period.

Congenital lung defects if they are compatible with life, lead to complications in the form of a secondary infection with the development of chronic bronchitis and pneumonia, which result in pneumosclerosis, obliteration of the pleural cavities, cor pulmonale, followed by its failure. Death from these complications is more common in adults.

Rice. 298. Congenital bronchiectasis (according to A.V. Tsinserling)

Congenital malformations of the osteoarticular and muscular systems

Congenital malformations of the skeleton and muscular system are found, according to autopsies, in 0.5-0.8 and 13.5% of cases, respectively, among all defects in those who died in the perinatal period. In their etiology, thalidomide is of particular importance among exogenous factors. Distinguish between systemic and isolated skeletal defects.

Systemic defects of the osteoarticular system.Chondrodysplasia(refers to early fetopathies) - a group of congenital defects characterized by significant shortening and thickening of the limbs. Fetal chondrodysplasia, or lethal micromelia (Fig. 299), - shortening and thickening of the limbs, their skin forms large folds, the newborn's head is enlarged, the nose is saddle-shaped, the mouth is open, the tongue is thick, the neck is short, the vertebral bodies are also thickened, the chest is hypoplastic; the defect is combined with hypoplasia of the lungs. Another type of chondrodysplasia is achondroplasia, characterized only by shortening and thickening of the limbs and impaired development of the bones of the facial skeleton. The defect manifests itself later, when the child's growth retardation becomes noticeable; inherited in a dominant manner, spontaneous gene mutations are possible. The essence of the defect is a violation of the development of bones of cartilaginous origin, bones of a connective origin develop normally.

Microscopic examination reveals a change in enchondral bone formation while maintaining the periosteal bone, which leads to a violation of the growth of tubular bones in length. The prognosis for life is favorable, there is no mental retardation.

Osteogenesis imperfecta(early fetopathy) - congenital fragility of bones, inherited in a dominant manner. The defect is characterized by multiple, often congenital fractures with curvature of the limbs and ribs. The cranial vault is built only of connective tissue; otosclerosis, blue sclera, hydrocephalus are observed.

Rice. 299. Chondrodysplasia (according to A.V. Zinserling)

Congenital marble disease(early fetopathy) - severe osteosclerosis with a simultaneous violation of the development of hematopoietic tissue of a hereditary nature. Children die in the first months, less often in the first years of life.

Isolated defects of the osteoarticular system. These include congenital dislocation and hip dysplasia one or two-sided (early fetopathy), congenital amputation and aplasia (amelia) of the extremities, phocomelia- underdevelopment of the proximal extremities, when the feet and hands start directly from the trunk, polydactyly- an increase in the number of fingers, syndactyly- fusion of fingers, etc.

Systemic hypoplasia of muscle tissue. An example of it would be Oppenheim's congenital myatonia (refers to early fetopathies), in which there is hypoplasia of striated muscles. In the first months of life, children die of pneumonia, the development of which is associated with hypoplasia of the respiratory muscles, with the exception of the diaphragm.

Isolated malformations of the muscular system. The most important of them are: congenital true and false diaphragmatic hernia. When false hernial sac is absent, there is a defect in the diaphragm, the volume of which varies, through it the abdominal organs, more often the intestinal loops, can penetrate into the chest cavity. Congenital torticollis characterized by shortening of the sternocleidomastoid muscle due to its focal fibrosis, which causes the child's head to tilt to the affected side.

Congenital malformations of the face. The main birth defects are: heiloschis- cleft upper lip, palatoskhiz- splitting of the hard palate, micrognathia- hypoplasia of the lower jaw, hypertelorism- wide distance between the eyes. These defects are often combined with other multiple malformations.

Fetopathies

Fetopathies- pathology of the fetal period from the 76th to the 280th day of pregnancy, during which the main tissue differentiation of organs and the formation of the placenta ends. A characteristic feature of fetopathy is a combination of two types of lesions - disorders of tissue morphogenesis with reactive changes in the form of circulatory disorders, dystrophy, necrosis, inflammation, immune reactions, compensatory and adaptive processes, regeneration. At early fetopathies are dominated by disorders of tissue morphogenesis, with late- reactive processes. A distinction should be made between infectious and non-infectious fetopathies.

Infectious fetopathies

Etiology and pathogenesis. Infectious fetopathies can be associated with exposure to viruses, many bacteria and other pathogens. In this case, inflammation often occurs in the placenta.

Fetal infection occurs most often hematogenous way. The pathogen through the placenta through the umbilical vein enters the fetus. When the inflammatory process passes from the placenta to the membranes, it is possible infection of the amniotic fluid followed by swallowing or aspiration the fetus of the pathogen. Less commonly, infection is carried out upward path through the vagina into the cervical canal or downward path through the tubes, if the mother has an inflammation in the abdominal cavity. The source of infection is often sluggish chronic or latent infections of the mother, since in such forms of the course of infectious diseases, the content of immunoglobulins and the titer of the corresponding immune antibodies are insufficient both to complete the process in the mother herself and to prevent fetal disease. Such ratios are observed, for example, with toxoplasmosis, serum hepatitis.

Pathological anatomy. With all infectious fetopathies, there is a generalized, and with bacterial and fungal septic type of changes with the formation of multiple foci areactive necrosis in parenchymal organs and the brain (with congenital chickenpox, herpes simplex, cytomegaly, infection with the Coxsackie virus) or productive diffuse inflammatory infiltrates in combination with areactive necrotic foci (congenital serum hepatitis, cytomegaly, rubella, toxoplasmosis) granulomas in many organs (congenital syphilis, listeriosis, tuberculosis, fungal infection). At the same time, against the background of generalized lesions, changes in certain organs may prevail, for example, with toxoplasmosis - in the brain, with serum hepatitis - in the liver, with infection with the Coxsackie virus - in the myocardium and brain, etc. As a rule, a pronounced hemorrhagic syndrome in the form of petechiae on the skin, mucous and serous membranes, hemorrhages in internal organs, the tendency to which increases during the infectious process due to the development of generalized vasculitis. Immune reactions of the fetus are expressed in a delay in the maturation of the thymus gland, in its atrophy with a decrease in its volume and weight, in the presence of foci in full-term fetuses extramedullary hematopoiesis, and in premature babies - in an increase in their volume, which is accompanied by hepato- and splenomegaly. Conjugational jaundice, tissue immaturity of organs in full-term or prematurity and general fetal malnutrition are often observed.

Forecast in most cases, unfavorable, death occurs in the first days or in the first 3 months of life. With recovery, persistent changes in organs remain, leading to disability or death from failure of vital organs in other periods of life.

Non-infectious fetopathies

To basic forms non-infectious fetopathy include hemolytic disease of the newborn, fetal cystic fibrosis, fibroelastosis

endocardium, diabetic fetopathy and many, mainly early, fetopathies. Early fetopathies are manifested in the form of isolated congenital malformations (hypertrophic pyloric stenosis, megacolon, megaloureter, agenesis, hypoplasia and hyperplasia of the bile ducts, pulmonary cystosis, etc.), as well as systemic congenital malformations of osteoarticular and muscle tissues, skin, etc.

Fetal cystic fibrosis- a perinatally emerging form of cystic fibrosis (cystic fibrosis of the pancreas). The disease is accompanied by a change in the nature of mucus and other secrets secreted by the epithelium of the excretory glands, which occurs, according to the autopsy data of children, in 0.1-0.2%. The most common is the pulmonary-intestinal form, which children of the first months of life suffer from, less often there is an isolated pulmonary or intestinal form, which is observed in children at any age. It is very rare to find forms with the development of biliary cirrhosis of the liver (occurs in older children and adults). Fetal cystic fibrosis develops in utero or in the first days of life.

Etiology and pathogenesis. The disease is inherited in an autosomal recessive manner. The pathogenesis is probably based on fermentopathy, the nature of which has not been disclosed, leading to a violation of the structure of glycoproteins (mucoids). The secret of many glands becomes thick, viscous, which leads to a delay in its evacuation, the development of retention cysts and to a violation of patency through natural channels. First of all, the excretory apparatus of the pancreas, the mucous glands of the respiratory and digestive tracts, the biliary tract, the salivary, sweat and lacrimal glands are affected.

Pathological anatomy. On macroscopic examination pancreas the gland can be unchanged, in rare cases, there is a seal, an emphasized pattern of lobules, the appearance of small cysts. Microscopically, a thickening of the secretion is observed in the cystic ducts and in the acini. The glandular parenchyma is atrophic, the islet apparatus is preserved, diffuse fibrosis and lymphohistiocytic infiltrates are noted in the interstitium (Fig. 300). Changes can range from cystic enlargement of single ducts and acini to cystic transformation of the entire excretory glandular parenchyma. As a result of thickening of mucus in bronchus obstructive atelectasis occurs with inevitable secondary infection and development chronic bronchitis, pneumonia with bronchiectasis and abscess formation. V intestines there is a thickening of feces with the development of coprostasis, perforation and fecal peritonitis. Changes in the properties of feces are facilitated not only by thickening of mucus, but also by insufficiency of the pancreas (lack of lipase, lipocaine and trypsin). V liver there is fatty infiltration. Thickening of bile leads to cholestasis and biliary cirrhosis. Fetal cystic fibrosis manifests itself as meconium intestinal obstruction(meconium ileus). In the pancreas

Rice. 300. Cystic fibrosis of the pancreas with cystic fibrosis

pronounced cystic changes may be absent. The entire small intestine up to the ileal cecum (bauginia) valve is filled with greenish-olive thick, viscous meconium; the colon is collapsed, it looks like a so-called microcolon. After perforation between the loops of the intestine, masses of meconium and fibrinous-purulent overlays on the peritoneum are visible. At intrauterine meconium peritonitis adhesions are formed between the intestinal loops with greenish lumps of meconium embedded in them. Such plaque-like dense overlays are found on the parietal peritoneum, on the capsule of the spleen and liver.

Complications. In addition to complications directly related to the underlying disease (chronic pneumonia, fecal and meconium peritonitis, cirrhosis of the liver), patients experience progressive general depletion, which depends on disorders of lipid, protein, vitamin metabolism (vitamins A, D, E and K, soluble in lipids) as a result of increasing pancreatic insufficiency.

Death comes from pulmonary heart failure, peritonitis, hepatic coma. With meconium ileus, children die in the first days of life.

Endocardial fibroelastosis- a congenital disease in which sclerosis with an abundance of elastic fibers is observed in the endocardium and in the subendocardial layer of the myocardium. Rare.

Etiology and pathogenesis. The family character of the disease is noted, suggesting the influence of the cytomegalovirus, protein starvation of the mother, vitamin deficiencies, fetal hypoxia. The pathogenesis is not clear. It is possible that the leading role belongs to myocardial damage, in response to which the elastic and collagen tissues of the endocardium grow compensatory.

Pathological anatomy. The heart is enlarged 2.5-4 times compared with the norm due to significant hypertrophy, predominantly of the left ventricle, its endocardium is sharply thickened, whitish-yellow. WHO-

it is possible to simultaneously damage the endocardium of the rest of the heart. In half of the cases, there is a thickening and deformation of the mitral and aortic valves, in 1/3 of cases - a combination with congenital defects, more often with narrowing of the aorta.

Significant endocardial sclerosis and cardiosclerosis lead to a decrease in myocardial contractility.

Death comes from acute heart failure (fulminant form) in the first days of life or from growing heart failure with intercurrent diseases (pneumonia) in the first months of life.

Diabetic fetopathy- fetal disease caused by maternal prediabetes and diabetes.

Etiology and pathogenesis. Of major importance are fetal carbohydrate metabolism disorders under the influence of constant changes in the level of glucose in the mother's blood, especially significant in poorly treated pregnancy diabetes. In connection with an attempt to compensate for the level of glucose in the blood, the fetus develops hypertrophy of the insular apparatus, followed by its depletion and β-cell dystrophy, as well as Itsenko-Cushing's syndrome. After birth, when the influence of maternal diabetes decreases, restoration of the function of the fetal pancreas and normalization of metabolism can occur. If this does not happen, severe suffering develops - diabetes of the newborn. However, newborn diabetes is not always associated with maternal diabetes, as it may depend on damage to the insular apparatus of a fetus of a different origin. In contrast to this diabetic fetopathy is associated only with diabetes and maternal prediabetes.

Pathological anatomy. With this fetopathy, there is a tendency to give birth to large fetuses - with a body weight of 4-6 kg, although this is not necessary. The body of the fetus is covered with abundant cheese-like lubricant, the skin is purplish blue with petechiae, the neck is short, the face is puffy, edematous, the soft tissues of the trunk and extremities are pasty (Fig. 301), there are signs of immaturity - the absence of a core of ossification of the thigh or a decrease in its size, etc. and cardiomegaly. Microscopic examination in the pancreas shows hypertrophy of the islets of the pancreas with an increase in the number of β-cells. Along with this, degranulation, vacuolization and pycnosis of the nuclei of these cells are noted, indicating the depletion of their secretion. The liver has diffuse fatty infiltration, extensive foci of extramedullary hematopoiesis, and sometimes necrosis. In the myocardium, vacuolar dystrophy, micronecrosis are noted, in the kidneys - the deposition of glycogen in the convoluted tubules, in the spleen - extramedullary hematopoiesis. In the vessels of the microvasculature of the kidneys, skin, and retina of the eye, thickening of the walls is observed due to the deposits of SHIK-positive material, proliferation of the endothelium, along with significant tortuosity and ectasia of the vascular bed.

Rice. 301. Diabetic fetopathy

From complications fetuses and newborns with diabetic fetopathy often develop hypoxia during childbirth, education hyaline membranes in the lungs, which depends on the deficiency of the antiatelectatic factor - surfactant, a phospholipid substance - as a result of disorders in diabetic fetopathy not only of carbohydrate, but also of lipid metabolism.

Death comes from asphyxia of the fetus or newborn, as well as from hypoglycemia that occurs after birth stress.

Anomalies of development and congenital diseases of the fetus can occur as a result of exposure to a damaging factor at different periods of ontogenesis.

Gametopathies and blastopathies are caused by changes in the genetic apparatus, and can also occur during the maturation of germ cells, during fertilization or in the initial stages of cleavage of a fertilized cell (first 15 days) under the influence of damaging factors (alcohol, chemicals, radiation, pregnancy pathology, extragenital and infectious diseases of the mother, etc.). Hereditary diseases and disorders of intrauterine development are usually caused by mutations in the germ cells of the child's parents (sporadic mutations) or their ancestors (inherited mutations).

The end result of blastopathy is an empty embryo sac and fused twins. Most pregnancies with gametopathies and blastopathies are interrupted 3-4 weeks after damage or death of the embryo.

Embryopathies occur between the 16th day and the 10th week after fertilization. During this period of the formation of the rudiments of all important organs (organogenesis), an intensified process of differentiation of cells and tissues occurs; the embryo is highly sensitive to the action of damaging factors. Under their influence, malformations (true deformities), developmental delay or death of the embryo arise. Pregnancy often ends in miscarriage, childbirth with deformities or stillbirth.

Fetopathies are diseases and functional disorders that arise in the fetus under the influence of exogenous influences from the 11th week of pregnancy to birth. Depending on the pathogenesis and etiological factor, infectious and non-infectious fetopathies are distinguished.

The manifestations of early fetopathy are due to the fact that during this period of gestation there is an active development of the fetal organs and, basically, tissue differentiation is completed. Malformations (pseudoteratogenic effect) occur in cases where the formation of a particular system or organ has not ended by the end of the first trimester of pregnancy (microcephaly, hydrocephalus, etc.), or arise under the influence of mechanical internal factors (compression, constriction of the limbs with amniotic strands) ... The most typical characteristics are delayed development (fetal growth retardation syndrome, organ hypoplasia), functional disorders (carbohydrate metabolism, enzyme deficiency). From the 20-24th week of gestation, the fetus acquires the ability to respond with an inflammatory response of the body to possible effects. In the late fetal period, as the fetus matures, its reaction to the action of harmful factors is close to that in the postnatal period.

Infectious fetopathies arise under the influence of any infectious agent (from viruses to protozoa and fungi) and tend to generalize the process, leading to specific changes in the fetus (congenital syphilis, tuberculosis, herpes infections).

Non-infectious fetopathies (hypotrophy and hypoxia) develop as a result of placental insufficiency and metabolic disorders in the fetus with pathology of pregnancy and extragenital diseases (especially with their exacerbations during pregnancy). Non-infectious fetopathies include fetal hemolytic disease; congenital generalized calcification of the arteries, myocardial fibroblastosis, diabetic, thyrotoxic, alcoholic fetopathy.

Fetopathies of any etiology have a number of common clinical and morphological

Features:

Changes in body length and weight parameters (increase or, more often,

Decrease);

Lagging behind the morphological and functional maturation of organs (central nervous system, lungs, kidneys, hematopoietic organs, thymus,

The predominance of hypertrophy and hyperplasia of the mesenchymal elements in the regeneration processes, which leads to the excessive development of connective tissue;

Infectious and toxic fetopathies are accompanied by severe hemorrhagic diathesis and hepatosplenomegaly.

In addition to the general features characteristic of fetopathy, some specific features of fetal damage in common diseases should be highlighted.

Diabetic fetopathy (see section 12.8).

For thyrotoxic fetopathy, which develops with a severe form of diffuse toxic goiter, the large size of the fetus (macrosomia) is characteristic. Organic and functional disorders are observed in 60% of fetuses: malformations (19%), persistent disorders of the nervous system and thyroid gland. The development of congenital goiter is due to both the mother's illness and the intake of thyro-static drugs such as thiouracil during gestation.

Treatment. In case of deviations from the normal development of the embryo and fetus, treatment should be aimed at eliminating the cause that caused the embryo or fetopathy.

Prevention. It is associated with pre- and antenatal care of the fetus and newborn and should be aimed at identifying and treating diseases in the mother before and during pregnancy (pre-gravid preparation, prevention of exacerbations of the disease during pregnancy, qualified use of medications), prevention of pathology of pregnancy and childbirth.

How due to gametopathy?

Gametopathies include a wide range of pathological conditions resulting from mutations in the germ cells of the child's parents (sporadic mutations) or in distant ancestors (inherited mutations), as well as due to damage to gametes during the establishment, formation and maturation of germ cells.

How due to blastopathy?

Blastopathies- a broader concept that includes violations of gametogenesis, as well as all pathological processes in a free or fixed blastocyst and during its implantation through the uterine epithelium into the endometrium, that is, during the first 1 2-1 5 days after fertilization. They develop under the influence of damaging factors (alcohol, chemicals, radiation, complications of pregnancy, extragenital and infectious diseases of the mother).

Blastopathy classification:

1) Blastopathies leading to early elimination of the embryo (in the first weeks of pregnancy).

1. Anomalies in the development of the blastocyst, amniotic cavity and yolk sac.

2. Empty embryonic sac due to aplasia or resorption of the embryoblast (without amnion, amniotic pedicle and yolk sac).

3. Hypoplasia of the amniotic cavity with partial or complete extraamnial embryo in the coelom.

4. Aplasia, hypoplasia or calcification of the yolk sac.

5. Twin defects: thoracopagi, ischiopagi, etc.

6. Unspecified early blastopathies: abnormal blastocyst, complete topographic inversion of the embryoblast.

2) Blastopathies, resulting in severe disorders in the embryo and fetus in the first months of pregnancy.

1. Pathology of blastocyst implantation - ectopic development of pregnancy (ovarian, tubal and intraperitoneal).

2. Intrauterine ectopia: implantation of a blastocyst in the uterine horn, in the internal os of the cervical canal - low attachment and placenta previa, in the cervical canal - cervical pregnancy.

3) Blastopathy with delayed clinical effect.

1. Violations of the depth of implantation - superficial implantation - hypoplasia and abnormalities in the shape of the placenta.

2. Deep implantation: placenta circumvallata, fenestrata, marginata, membranacea, accreta, placenta accreta (Fig. 13.3).

3. Lateral and marginal orientation - shell or marginal attachment of the umbilical cord.

4. Blastopathy during artificial insemination. What such embryopathy?

Embryopathies include pathological changes in the differentiation of cells and tissues of the embryo, developing in the period from the 20th day to 1–2 weeks after fertilization, leading to the occurrence of fetal malformations, delay or death of the embryo.

Embryopathy classification:

1) Defects of the initial histogenesis of the embryo (from the 13th to the 19th day of gestation).

1. Anomalies of the axial complex in the embryo at 6-8 presomite stages.

2. Hypo- and aplasia of the notochord and neural plate.

2) Defects of the initial organogenesis of the embryo (from the 20th to the 34th day).

1. Panorganodysplasias with anomalies of the external shape of the embryo 9-1 2 and 1 3-1 5 post-somitic stages.

2. Unaccounted for anomalies in early miscarriages.

3) Pathology of late organogenesis of the embryo (from the 35th to the 70th day).

1. Congenital cystic cervical lymphangiomas.

2. Single and multiple malformations of organs and systems.

3. Non-developing pregnancy.

What such fetopathy?*,

Fetopathies- these are diseases and functional disorders that arise in the fetus under the influence of exogenous influences from the 13th week of pregnancy to birth.

What kind exists views fetopathies?

Depending on the pathogenesis and etiological factor, infectious and non-infectious fetopathies are distinguished.

What include To infectious fetopathies?

Infectious fetopathies are those that arise under the influence of an infectious agent and tend to generalize, accompanied by specific changes in the fetus (congenital syphilis, tuberculosis, infections attributed to the TORCH complex).

"Obstetrics in questions and answers"

What include To non-infectious fetopathies?

Non-infectious fetopathies include fetal diseases that develop as a result of placental insufficiency and metabolic disorders in the fetus with complications of pregnancy and extragenital diseases (hypoxia, fetal malnutrition; hemolytic disease of the fetus; congenital generalized calcification of the arteries; fibroelastosis of the myocardium; diabetic, thyrotoxic.)

What such critical period?

Critical period- This is a period of development, characterized by increased sensitivity of the embryo and embryo to the damaging effects of various factors.

What kind exists critical periods?

The first critical period occurs at the end of the first and the entire second week of gestation. The effect of the damaging factor is realized, as a rule, in the form of the death of the embryo.

The second critical period occurs at 3-6 weeks of gestation. For antenatal damage, the most dangerous in general is the first trimester, when the mother-placenta-fetus system is just emerging and the connections between its individual components are still fragile.

The third critical period is the last month of pregnancy, which is characterized by a significant dissociation between the cessation of the increase in the mass of the placenta and the rapid increase in the weight of the fetus.

The cause of embryopathy can be hereditary genetic disorders, infectious diseases, intoxication with poisons, lack of oxygen, radiation and other disease-causing influences transmitted from the mother to the fetus. Embryopathies lead to a violation of the formation of the organs of the embryo and are the cause of malformations of organs and parts of the body, spontaneous abortions.

To prevent embryopathy, it is important to protect the health of a woman in the first months of pregnancy (see Antenatal fetal protection).

Embryopathies (from the Greek embryon - fetus, embryo and pathos - suffering, disease) are diseases of the embryo that arise during embryogenesis - the main primitive laying of the most important organs.

Embryogenesis begins in the middle of the first month and ends in the third month of intrauterine life (Fig.).

Pathology of the prenatal period according to Gertler (scheme): I - pathology of progenesis; II-V - pathology of the embryo (1-280th day): II - pathology of the period of blastogenesis (1-15th day); III - pathology of the period of embryogenesis (16-75th day); IV-pathology of the fetal period (76-280th day); V - pathology of the placenta development (15-280th day). 1-ovary; 2 - testicle; 3 - embryoblast; 4 - trophoblast; 5- amnion; 6 - embryo; 7 - chorion; 8 - fruit; 9 - placenta.

Any influence that damages the embryo causes either its death, or a violation of the processes of morphogenesis, called a developmental defect. Consequently, embryopathies manifest themselves in the form of malformations of organs or body parts of the embryo. In addition to morphologically pronounced malformations, functional disorders of organs and systems (of an enzymatic and metabolic nature) are also observed. Such functional embryopathies can be detected during the later life of the individual.

Using the data of embryology, one can judge, to a certain extent accurately, the time of the onset of embryopathy, since the organ is most sensitive at the moment of the highest mitotic activity of the tissue primordia that form it. The main defining moment in the occurrence of this or that malformation is the time when the harmful agent exerted its effect on the embryo; for example, different agents (radiation energy, diabetes in the mother) can lead to the occurrence of the same malformation (anencephaly) if their influence took place in the 3rd week of the embryo's life. However, it is impossible to exclude the role of the characteristics of the harmful agent itself, since the tropism of this agent to certain tissues of the embryo is of undoubted importance (for example, the rubella virus mainly affects the tissue anlage of the lens, milk teeth, inner ear, heart; the epidemic hepatitis virus - the anlage of the liver and bile moves).

The causes of embryopathy can be endogenous (genotypic) and exogenous (various influences on the part of the mother's body). The teratogenic effect of various exogenous influences depends on the genetic characteristics of a particular subject. So, in an experiment on animals of genetically different strains, the number of malformations obtained under the influence of exogenous influences is not the same.

Very little is still known about the particular forms of human embryopathies. Among embryopathies of viral origin, the most fully studied is rubeolar embryopathy, which, depending on the duration of the mother's disease with rubella, is expressed in malformations of the eye, inner ear, heart, and dental germs. It is assumed that the viruses of influenza, epidemic hepatitis, poliomyelitis, Coxsackie, cytomegaly also have a teratogenic effect.

Diabetic embryopathy occurs in 3–12% of cases in children whose mothers have diabetes; in this case, intestinal atresia, heart defects, malformations of the limbs, skull and anencephaly occur.

Human radiation embryopathies have been little studied. The residents of Hiroshima and Nagasaki who suffered from the atomic bomb had miscarriages, the birth of premature fetuses or fetuses with functional impairments; a noticeable increase in malformations was not observed.

Medicinal embryopathies have been extensively studied experimentally. The teratogenic effect of sulfonamides, some antibiotics (tetracycline, terramycin, auromycin), hormones (corticosteroids, insulin), cytostatics (aminopterin), vitamins has been established. Thalidomide embryopathy has become famous, which took place in West Germany after the use of thalidomide in pregnant women. Moreover, children were born with malformations of the limbs. Some researchers point to the teratogenic effect of quinine (malformations of the neural tube, limbs). There is little reliable information about other medicinal human embryopathies.

The prognosis of embryopathy of the most important organs is unfavorable for life. In some cases, surgery is possible. Prevention is crucial - protecting a pregnant woman (especially in the first weeks of pregnancy) from all kinds of harmful influences, including the use of active drug therapy. It must be borne in mind that embryopathy can be combined with fetopathy (see). In these cases, active therapy of the newborn is required, if possible, of a specific nature. See also Defects, development.

embryogenesis, are antibodies that are produced by the cells of the developing embryo. G.I. Kolyaskina et al. (1997) obtained data concerning the role of autoimmune shifts in impaired phospholipid metabolism, which are currently assigned an important role in the pathogenesis of congenital and pyrorebate mental and neurological disorders, which will be discussed in more detail below. Important pathogenic

Physiology and pathology of reproduction
fetopathy of newborns. 6. Hemolytic disease

Diabetic fetopathy of newborns
fetopathy (FF) is an abnormality in the development of the fetus that occurs after the first trimester of pregnancy with poorly compensated or latent diabetes in the mother (a disease in which the blood sugar level in the blood is high). Clinic: - Macrosomia (large fetus - weight over 4 kg). Through the placenta from mother to child, glucose (sugar) penetrates in unlimited quantities, as it is required

Congenital malformations
embryogenesis are designated as teratogenesis (from the Greek teras (teratos) - freak, monster). Teratogens, or teratogenic factors, include only those environmental factors that disrupt embryonic development, acting during pregnancy. The causes of malformations are varied. CMD can occur as a result of mutation, either as a result of exposure to teratogenic factors, or as a result of

Research methods for infection during pregnancy
embryo infection at 4-12 weeks of gestation is associated with viral infection, penetration of microorganisms through the chorion. The fetus does not yet have defense mechanisms. Violation of the laying of organs and systems causes a teratogenic and embryotoxic effect. In the first trimester, there are no specific clinical signs of the presence of IUI, some echographic signs indirectly indicate it:

Congenital malformations
embryo to teratogens. The "trigger" mechanism in the development of congenital malformations of multifactorial origin is: unbalanced nutrition of a pregnant woman, first of all, a deficiency of essential amino acids and vitamins, especially folic acid; deficiency of iodine and selenium; oxygen starvation of the embryo due to diseases of the fetus or pregnant woman, damage to the placenta, active

MAIN PROBLEMS OF PERINATOLOGY
embryogenesis - the study of congenital malformations - the study of damaging environmental factors - the determination of the critical periods of the fetus and newborns - the study of the mother-placenta-fetus system - the study of immune-conflict pregnancy. 2) Clinical direction - study of the clinic of pathological conditions of the fetus and newborns

General Provisions
embryo and fetopathies, generalized inflammatory changes. Secondary infection (reactivation of a latent viral infection or reinfection with a new virus strain) during pregnancy is much less likely to lead to IUI. This is due to the fact that the replication of the virus during a secondary infection occurs under conditions of "immunological pressure". Since in the body of a seropositive woman at the time of infection

PREGNANCY AND DIABETES
fetopathy. Complications arising in childbirth: Reasons: 1) Late gestosis 2) Polyhydramnios - complications develop as often as possible 3) Large fetus. Complications arising in the first stage of labor: 1) premature rupture of amniotic fluid 2) loss of umbilical cord loops, small parts of the fetus 3) accession of infection - development of chorionamnionitis

DETERMINATION OF THE TIME OF PREGNANCY
fetopathy, etc.), therefore, dynamic ultrasound observation of the fetus is of certain value. - On prenatal leave. According to the legislation, from 30 weeks of pregnancy, a woman has the right to prenatal leave. For a quick calculation of the gestational age and childbirth, special obstetric calendars are issued. Objective determination of the gestational age in the first trimester is possible with

Urogenital chlamydia
embryo and fetotoxic action. Most often, macrolides are used to treat pregnant women: erythromycin is called the drug of first choice, it is prescribed according to the scheme of 500 mg orally 4 times a day for 10-14 days. Also offered courses of therapy with rovamycin, clindamycin and clarithromycin. For patients with chronic chlamydial infection, an alternative amoxicillin therapy regimen is used:

Rubella virus
fetopathy (congenital rubella syndrome - CRS), often resulting in miscarriage or childbirth with various severe malformations such as blindness, deafness, congenital heart defects. When infected in the first 3 months of pregnancy, fetal infection occurs in 90% of cases. The source of infection is a person who is sick with a pronounced or erased form of rubella, which proceeds without a rash.

Dysontogeny
embryopathy and fetopathy. A large number of hereditary diseases associated with incorrect division of chromosomes are described in the special literature. Most of them are accompanied by gross damage to the central nervous system. These include Down's disease, Shereshevsky-Turner's disease, Klinefelter's disease, etc. In recent years, the attention of researchers has been attracted by diseases

... Diabetes mellitus and pregnancy
embryonic stages of development of the pancreas, and are also involved in the processes of insulin secretion and glucose metabolism in the β-cell, liver and other tissues. The main mechanism for the development of type II diabetes mellitus is the development of insulin resistance and deficiency of β-cell function. The main cause of secondary insulin resistance is glucose toxicity as a result of prolonged

Some diseases of pregnant women and fetal pathology
embryonic type. With hypotonic disease, according to the same authors, 5% of pregnant women develop intrauterine growth retardation, premature birth is recorded in 13.7% of cases, and the frequency of placental insufficiency reaches 45%. The frequency of pyelonephritis, according to G.M. Savelyeva et al. (1991), is 10.8%, while in 6.6% the disease was diagnosed before pregnancy.

Intrauterine infectious lesions of the nervous system
there are no embryopathies (G.I. Kravtsova, 1996). In 17% of children with congenital CMV or toxoplasmosis, there is congenital or acquired in the early antenatal period sensorineural hearing loss, and 75% have visual impairment (S. Stagno et al., 1977 - cited from: Pediatrician Yearly, 1981). There have been cases of congenital hydrocephalus (V.R. Purin, T.P. Zhukova, 1976). In the sample of G.K. Yudina, N.N. Solovykh (1994)

VETERINARY SANITARY EXPERTISE FOR CONTAMINATION WITH MAN-GENERIC POLLUTANTS
embryotoxic, gonadotoxic effects. According to the recommendation of the FAO-WHO expert committee on food additives, the daily intake of cadmium in humans with food should not exceed 1 μg / kg of body weight. Due to the high content of cadmium, the kidneys, especially of old animals and birds, pose a food hazard. It is more expedient to send them for disposal. Lead compound. In the surrounding

fetopathy, 1 degree prematurity. After primary measures - mask ventilation with 100% oxygen - indirect heart massage - intubate the trachea of ​​ET 3.5 mm in diameter, to a depth of 9 cm, continue mechanical ventilation and indirect heart massage, inject endotracheal epinephrine 0.01% - 1 ml - continue mechanical ventilation and indirect massage heart - catheterize or puncture the umbilical vein, repeated with an interval of 5 minutes