What is fetal congenital malformation: diagnosis, causes. Polysomy on the Y chromosome. Malformations of the kidneys and urinary tract

Congenital malformations of the fetus are one of the most serious complications of pregnancy, leading to infant mortality and disability. The birth of a child with congenital malformations is often the cause of family breakdown. Not all parents can survive such a shock and begin to blame each other for what happened.

Medical statistics show that in recent decades, the number of children with congenital malformations has been steadily growing all over the world. In Russia, the frequency of this pathology is 5-6 cases for every thousand births, in Western Europe this figure is about half as low.

Causes of congenital malformations

Various reasons can lead to the formation of congenital malformations in the fetus. Most often, this pathology occurs as a result of genetic mutations caused by the use of alcohol, drugs, exposure to ionizing radiation and other harmful factors. Congenital malformations can also be caused by various abnormalities in the chromosome sets of the father or mother, as well as a lack of vitamins, especially folic acid, in the diet of a pregnant woman.

Classification of congenital malformations

There are various criteria on the basis of which doctors build a classification system for congenital malformations. Depending on the cause, congenital malformations of the fetus are divided into environmental (exogenous), hereditary (endogenous) and multifactorial.

The development of hereditary malformations is due to a change in chromosomes or genes in gametes, which is the cause of chromosomal, gene or genomic mutations in the zygote (fertilized egg). These mutations lead to disturbances in the formation of tissues and organs in the fetus.

Exogenous congenital malformations occur under the influence of various teratogenic factors (industrial poisons, smoking, alcohol, viruses, drugs, and much more).

Multifactorial congenital malformations of the fetus are such defects, the development of which is due to the combined influence of genetic and environmental factors.

Depending on at what stage of embryogenesis (fetal formation) exogenous or genetic factors begin to take effect, developmental defects formed under their influence are divided into the following types:

• Gametopathy or blastopathy. Developmental disorders appear already at the zygote or blastula stage. They are very rude. Most often, the embryo dies and is rejected - a spontaneous abortion. In cases where miscarriage does not occur, a non-developing (frozen) pregnancy occurs.
• Embryopathy. Development defects occur between 15 days and 8 weeks of embryo life. Embryopathies are the most common cause of fetal birth defects.
• Fetopathy. It occurs under the influence of adverse factors after 10 weeks of pregnancy. In this case, congenital malformations are usually not of a gross nature and are manifested by the appearance of various functional disorders in the child, delayed mental and physical development, and a decrease in body weight.

In addition, primary and secondary congenital malformations of the fetus are distinguished. Primary ones are always due to the direct impact of any teratogenic factors. Secondary malformations arise as a complication of primary ones, and at the same time are always associated with them pathogenetically.

The World Health Organization has proposed a classification of congenital malformations according to their location, i.e. based on the anatomical and physiological principle. In accordance with this classification, there are:

• Congenital malformations of the nervous system. These include back bifida (open spinal hernia), underdevelopment of the brain (hypoplasia) or its complete absence (anencephaly). Congenital malformations of the nervous system are very serious and most often lead to the death of a child in the first hours of his life or the formation of permanent disability.
• Deformities of the maxillofacial region - cleft palate, cleft lip, underdevelopment of the lower or upper jaw.
• Congenital malformations of the limbs - their complete absence (atresia) or shortening (hypoplasia).
• Congenital malformations of the cardiovascular system. These include malformations of the heart and large blood vessels.
• Other congenital malformations.

How to prevent the birth of a child with congenital malformations?

The approach to planning pregnancy should be very responsible. The high risk group for having a sick child includes:

• Families in which there have already been cases of the birth of children with various congenital malformations;
• Families in which previous pregnancies ended in intrauterine fetal death, spontaneous miscarriage or stillbirth;
• Spouses in a family relationship (cousins, second cousins ​​and brothers);
• If a man is over 50 years old and a woman is 35 years old;
• If a man or woman is exposed to the unfavorable factors listed above due to the state of his health or professional activity.

If you belong to a high-risk group for the birth of a child with developmental defects, then before actively planning a pregnancy, you should definitely visit a geneticist. The specialist will draw up a pedigree and calculate the risk of having a sick child. At a very high risk, a married couple is usually recommended to resort to artificial insemination of the donor egg or insemination with donor sperm.

Are you already expecting a baby and are you in a high-risk group? And in this case, you should definitely consult with a geneticist. Never make an independent decision to terminate a pregnancy in cases where you did not know about it and were taking certain medications, had fluorography or, for example, drank alcohol. How much, in fact, in such situations there is a high risk of congenital malformations in the fetus, only a doctor can decide after conducting the necessary research.

What if your baby has a congenital malformation?

Any married couple who had a sick child, and especially with congenital malformations of the nervous system, experiences a state of psychological shock. In order to cope with it, contact a geneticist and find out the exact cause that led to the development of pathology. A sick child should definitely undergo a cytological examination. This is necessary not only for its treatment, but also for predicting the likelihood of re-birth in these spouses of a sick baby.

The final medical genetic consultation should be carried out no earlier than three months after childbirth. During this time, the psychological tension in the family usually decreases, and the spouses will be able to adequately perceive all the information they need.

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Congenital malformations of the fetus occupy 2-3 place in the structure of the causes of perinatal death of the fetus and newborn. Early diagnosis of malformations is of great importance, which is necessary for the timely solution of the issue of the possibility of prolonging pregnancy, which is determined by the type of defect, compatibility with life and the prognosis for postnatal development. Depending on the etiology, hereditary (genetic), exogenous and multifactorial congenital malformations of the fetus are distinguished. Hereditary defects include developmental defects arising from mutations, i.e. persistent changes in hereditary structures in gametes or zygotes. Depending on the level at which the mutation has occurred (genes or chromosomes), monogenic syndromes and chromosomal diseases are distinguished. Vices caused by the damaging effect of exogenous factors are referred to as exogenous. These factors, acting during gametogenesis or pregnancy, lead to the occurrence of congenital defects without disturbing the structure of the hereditary apparatus.

Vices of multifactorial origin are called defects that have arisen under the combined influence of genetic and exogenous factors. There are also isolated (localized in one organ), systemic (within one organ system) and multiple (in organs of two or more systems) defects.

DISEASES OF THE CENTRAL NERVOUS SYSTEM

Classification of the most common malformations of the central nervous system:

1. Hydrocephalus:

Stenosis of the aqueduct of the brain;

Open hydrocephalus;

Dandy-Walker Syndrome.

2. Papilloma of the choroid plexus.

3. Neural tube defects:

- spina bifida;

Anencephaly;

Cephalocele.

4. Microcephaly. Hydrocephalus

Hydrocephalus- an increase in the size of the ventricles of the brain with a simultaneous increase in intracranial pressure, accompanied in most cases by an increase in the size of the head (Fig. 28).

Rice. 28. Echographic picture of severe fetal hydrocephalus (arrows indicate sharply expanded ventricles of the brain, the cortex of which is significantly thinned, the size of the fetal head exceeds normal values ​​for a given gestational age)

Ventriculomegaly means an isolated increase in the size of the ventricles, not accompanied by an increase in the size of the head. Hydrocephalus occurs with a frequency of 0.1-2.5 per 1000 newborns. About 60% of fetuses with hydrocephalus are boys. Hydrocephalus can result from many diseases of various etiologies. In most cases, it develops as a result of a violation of the outflow of cerebrospinal fluid. The communicative form of hydrocephalus is caused by extraventri-

obstructive obstruction, while the obstructive form is an intraventricular obstruction. Occasionally, increased production of cerebrospinal fluid (for example, against the background of vascular plexus papilloma) or a violation of its reabsorption in the subarachnoid space leads to hydrocephalus.

Extracranial anomalies in hydrocephalus occur in 63%: agenesis and renal dysplasia, ventricular septal defect, tetrad of Fallot, meningomyelocele, cleft upper lip, soft and hard palate, atresia of the anus and rectum, gonadal dysgenesis. Hydrocephalus is represented mainly by stenosis of the aqueduct of the brain (narrowing of the sylvian aqueduct); open hydrocephalus (expansion of the ventricles of the brain and the subarachnoid system of the brain as a result of obstruction of the extraventricular system of the outflow tract of cerebrospinal fluid); Dandy-Walker syndrome (a combination of hydrocephalus, cysts of the posterior cranial fossa, defects of the cerebellar worm, through which the cyst communicates with the cavity of the IV ventricle). If hydrocephalus is detected, the anatomy of the brain structures, as well as the spine, should be carefully evaluated to exclude spina bifida. A comprehensive examination of the fetus should include an echocardiographic examination, since hydrocephalus is often combined with congenital heart defects. In case of hydrocephalus, before the period of fetal viability, it is advisable to discuss the issue of termination of pregnancy with the parents. With prolongation of pregnancy, dynamic ultrasound observation is indicated every 2 weeks. With an increase in hydrocephalus upon reaching the maturity of the fetal lungs, the question of early delivery and shunting should be raised. The effectiveness of prenatal ventricular bypass surgery has not yet been proven and this operation is not widely used. Caesarean section is indicated only with severe macrocephaly and the absence of other malformations. In the presence of gross combined anomalies that worsen the prognosis for life, cephalocentesis is the operation of choice.

Neural tube defects. This term includes anencephaly, cephalocele and spina bifida.

Spina bifida- an anomaly in the development of the spinal column, resulting from a violation of the closure of the neural tube (Fig. 29).

Exiting through a defect in the lining of the spinal cord is called a meningocele. If the hernial sac contains nerve tissue, the formation

Rice. 29. Echographic picture spina bifida in the lumbosacral spine (highlighted by an arrow)

is called meningomyelocele. Distinguish spina bifida cystica(a cystic form of a spinal hernia with the formation of a hernial sac containing the meninges and / or brain matter) and spina bifida occulta(latent form, which is not accompanied by the formation of a hernial protrusion). Most often, this defect is localized in the lumbar and sacral spine. Frequency of occurrence spina bifida depends on the geographic region. In some parts of the UK, the incidence of this defect is 4 per 1000 births. In the United States, this figure is 0.5 per 1000, although it depends on racial and geographic characteristics. Spina bifida- a developmental defect arising in connection with a violation of the closure of the neural tube at the 4th week of embryonic development. This anomaly is inherited in a multifactorial manner. Spina bifid a can be formed as a result of maternal hyperthermia, if she has diabetes mellitus, exposure to teratogenic factors, and also be part of genetic syndromes (with an isolated mutant gene) or chromosomal abnormalities (trisomies of 13 and 18 chromosome pairs, triploidy, unbalanced translocation or ring chromosome ). Spinal hernia is combined more

than with 40 syndromes of multiple malformations (hydrocephalus, congenital heart disease and genitourinary system).

Prenatal examination includes karyotype determination and a thorough ultrasound examination. Particular attention should be paid to the anatomy of the head, heart, arms and legs. If meningomyelocele is found before the period of fetal viability, the woman should be offered medical termination of the pregnancy. When pregnancy is prolonged, dynamic ultrasound is indicated every 2-3 weeks in order to assess the appearance of other signs (for example, ventriculomegaly). Parents should be consulted by a neurosurgeon to discuss the possibilities of postpartum surgery (defect closure or bypass surgery), as well as the prognosis for the child's life and health. Delivery should be carried out in large perinatal centers as soon as the lungs of the fetus reach sufficient maturity. Empirical risk of recurrence spina bibida is 3-5%. Taking large doses of folic acid (4 mg), started 3 months before the planned pregnancy and continued during the first half of it, can significantly reduce the risk of malformation.

Any open neural tube defect should be closed within the first 24 h of life. Antibiotic therapy started immediately after birth can reduce the risk of infectious complications. The prognosis for life and health depends on the level of meningomyelocele location, as well as on the number and nature of associated anomalies. The mental development of children who have a normal head circumference and a well-formed brain at birth does not suffer. Patients with a meningomyelocele located at L2 and above almost always have to use a wheelchair.

Anencephaly(pseudocephaly, extracranial dysencephaly) - the absence of the cerebral hemispheres and most of the cranial vault, while there is a defect in the frontal bone above the supraorbital region, the temporal and part of the occipital bone are absent. The top of the head is covered with a vascular membrane. The structures of the midbrain and diencephalon are partially or completely destroyed. The pituitary gland and the rhomboid fossa are largely preserved. Typical manifestations include bulging eyes, a large tongue, and a short neck. This pathology occurs with a frequency of 1 in 1000. More often than it

found in newborn girls. Acrania(exencephaly) - the absence of the cranial vault in the presence of a fragment of brain tissue. It is a rarer pathology than anencephaly. Anencephaly is the result of a violation of the closure of the rostral neuropore within 28 days of fertilization. Multifactorial and autosomal recessive inheritance, chromosomal abnormalities are noted. Risk factors include maternal diabetes. In experiments on animals, the teratogenicity of radiation, salicylates, sulfonamides, and an increased content of carbon dioxide was established. Echographic diagnosis can be established as early as 12-13 weeks of pregnancy. Anencephaly and acrania are absolutely fatal malformations, therefore, in both cases, a woman should be offered abortion. All newborns with anencephaly and acrania die within 2 weeks of birth. The empirical risk of recurrence of anencephaly is 3-5%. Taking large doses of folic acid (4 mg), started 3 months before the planned pregnancy and continued during the first half of it, can significantly reduce the risk of malformation.

Cephalocele(encephalocele, cranial or occipital meningocele, splitting of the skull) - bulging of the contents of the skull through a bone defect. The term "cranial meningocele" refers to a bulge only through a defect in the meningeal membranes. When the brain tissue is in the hernial sac, the term "encephalocele" is used. Cephalocele is rare (1: 2000 live births) and is a component of many genetic (Meckele, median facial cleft syndromes) and nongenetic (amniotic constrictions) syndromes. Cephalocele develops as a result of the failure of the neural tube defect to close and occurs at the 4th week of development. A defect in the skull, through which the membranes of the brain and brain tissue can prolapse, is formed as a result of the non-separation of the superficial ectoderm and the underlying neuroectoderm. If a cephalocele is detected, the woman should be offered to terminate the pregnancy for medical reasons. When prolonging pregnancy, the tactics of delivery depends on the size and contents of the hernial sac. With a large defect, prolapse of a significant amount of brain tissue, as well as in the presence of microcephaly and hydrocephalus, the prognosis for life and health is extremely unfavorable.

Delivery by caesarean section is not indicated in such cases. Decompression of the hernial sac may be recommended to create conditions for vaginal delivery. Caesarean section may be recommended if there is a small defect and if the hernial sac is small.

Microcephaly (microencephaly) is a clinical syndrome characterized by a decrease in head circumference and mental retardation. It occurs with a frequency of 1 in 1360 newborns, with combined anomalies of 1.6: 1000 live births. Microcephaly is a polyetiological disease, in the development of which genetic (chromosomal aberrations, monogenic defects) and environmental factors play an important role. The prognosis depends on the presence of associated anomalies. Trisomies on chromosome 13, 18, Meckel's syndrome are fatal lesions. Prenatal examination should include fetal karyotype determination and careful ultrasound examination. In the absence of concomitant anomalies, the prognosis depends on the size of the head: the smaller it is, the lower the index of intellectual development. Microcephaly is an incurable disease. Obstetric tactics - termination of pregnancy before the fetus reaches viability.

ANOMALIES OF FACIAL STRUCTURES AND NECK

Cleft face(cleft lip and palate) is a linear defect extending from the lip edge to the nasal opening.

A cleft palate, combined with a cleft lip, can spread through the alveolar processes and the hard palate to the nasal cavity or even to the bottom of the orbit. Bilateral cleft lip occurs in 20%, cleft lip and palate 25%. With a unilateral lesion, the cleft is often located on the left. Cleft face accounts for about 13% of all malformations and is recorded with a frequency of 1: 800 live births. Boys are more likely to have clefts than girls. Combined anomalies are found in 50% of cases with an isolated cleft palate and only in 13% - with a cleft lip and palate. Facial structures form between the 4th and 10th weeks of gestation. Unpaired frontonasal structures merge with paired maxillary and mandibular structures.

mi tubercles. In those observations, when the fusion process does not occur completely, crevices are formed. To diagnose a cleft face, as a rule, it is possible only in the second trimester of pregnancy with screening ultrasound. Prenatal detection of a defect using echography is difficult, however, due to ultrasound scanning and color Doppler mapping, the possibilities of its diagnosis are expanded. Doppler imaging can visualize the movement of fluid through the nose, mouth, and pharynx. In the presence of a crevice, the nature of the movement of the fluid changes. Three-dimensional echography can clarify the diagnosis in those observations when, on a two-dimensional examination, a cleft was suspected, but its clear visualization was not obtained. It is possible to diagnose the anomaly using fetoscopy, including embryoscopy. In the absence of associated anomalies, generally accepted obstetric tactics are used, regardless of the period of diagnosis. Taking folic acid before your next pregnancy and throughout the first half of your pregnancy can reduce the risk of clefts.

A cleft lip (cleft lip) does not interfere with the act of sucking and is only a cosmetic defect. With a combination of cleavage of the upper lip, jaw and hard palate (cleft palate), functional disorders are noted: when sucking, milk flows out through the nose due to its communication with the oral cavity; milk can enter the respiratory tract. The prognosis is favorable: modern surgical methods make it possible to achieve the correction of cosmetic and functional defects.

Cystic hygroma(lymphangioma or consequences of obstruction of the jugular lymphatic trunk) is an enclosed accumulation of fluid (Fig. 30). It is characterized by the presence of single or multiple soft tissue cysts in the neck, resulting from disorders in the lymphatic system. Cystic hygromas occur with a frequency of 1: 200 spontaneous miscarriages (the coccygeal-parietal size of the fetus is more than 30 mm). Cystic hygroma is often combined with chromosomal aberrations (Turner syndrome, trisomies of 13, 18, 21 pairs of chromosomes, mosaicism). As an isolated anomaly, it is inherited in an autosomal recessive manner. Prognosis: in most cases, the fetus dies in the first two trimesters of pregnancy. About 90% require surgical treatment, 31% develop swallowing disorders and respiratory obstruction

Rice. thirty. Echographic picture of cystic hygroma of the fetal neck at 16 weeks of pregnancy (large fluid formation is visualized in the fetal neck area - indicated by an arrow)

ways. Paresis of the facial nerve due to surgical treatment occurs in 24% of patients.

Obstetric tactics consists in terminating pregnancy with early diagnosis of cystic hygroma of the fetal neck; in full-term pregnancy, childbirth is carried out through the natural birth canal.

Congenital heart defects

The incidence of congenital heart defects (CHD) ranges from 1-2 to 8-9 per 1000 live births. The most common CHDs are atrial and interventricular septal defects, patent ductus arteriosus, pulmonary stenosis, hypoplastic left heart syndrome, single ventricle, etc. In 90% of cases, CHD are the result of multifactorial damage (genetic predisposition and environmental factors). The risk of recurrence of the defect is 2-5% after the birth of one and 10-15% - for two sick children. Monogenic inheritance

dation is observed in 1-2% of children with congenital heart disease. In 5% of children, chromosomal abnormalities are found, of which trisomies are the main ones. In 1-2% of newborns, there is a combined effect of various teratogens. Echocardiographic examination of the fetus is the most informative method for prenatal diagnosis of CHD. Indications for prenatal diagnosis are determined by the condition of the mother and fetus.

1. Indications due to the condition of the mother:

The presence of CHD in family members;

Diabetes;

Taking medications by a pregnant woman during organogenesis;

Alcoholism;

Systemic lupus erythematosus;

Phenylketonuria.

2. Indications due to the condition of the fetus:

Polyhydramnios;

Non-immune dropsy;

Heart rhythm disturbances;

Extracardiac defects;

Chromosomal abnormalities;

Symmetrical form of intrauterine growth retardation of the fetus. The prognosis depends on the type of defect, the presence of concomitant abnormalities and chromosomal abnormalities.

Obstetric tactics is that after a thorough echocardiographic examination, cordo or amniocentesis is performed in order to obtain material for chromosomal analysis. If CHD is detected in an unviable fetus, termination of pregnancy is indicated. For full-term pregnancies, it is best to deliver in specialized perinatal centers. With combined defects and genetic abnormalities, it is necessary to terminate pregnancy at any time.

The only ventricle of the heart. This is a severe congenital malformation in which the ventricles of the heart are represented by a single chamber or a large dominant ventricle in combination with a common atrioventricular junction containing two atrioventricular valves. The frequency of occurrence of the defect has not been precisely determined. A single ventricle is easily diagnosed using a standard four-chamber section of the fetal heart. The only one

the ventricle can be morphologically both right and left. The overall survival rate for all types of a single heart ventricle in patients without surgical treatment is 30%. A single ventricle is often combined with chromosomal abnormalities, gene disorders (Holt-Oram syndrome), asplenia / polysplenia syndrome, often formed in certain diseases of the mother, as well as against the background of teratogenic effects of retinoic acid. Prenatal examination if a single ventricle is found should include the determination of the karyotype and detailed examination of the ultrasound anatomy of the fetus. The clinical course of the disease and management tactics in the neonatal period are determined by the state of the pulmonary and systemic blood flow.

Atrial septal defect(DMPP) (Fig. 31). Represents a deficiency of the septum dividing the atria. It is observed in 17% of all congenital heart defects and is its most common structural anomaly. Often combined with other intracardiac abnormalities, as well as non-immune dropsy of the fetus. A combination with chromosomal abnormalities is possible. Most small ASDs are not detected during prenatal fetal ultrasound. Diagnosis can only be made using multiple cross-sections and color Doppler mapping. Prenatal examination if ASD is detected should include

Rice. 31. Echographic picture of an extensive atrial septal defect (indicated by an arrow)

start the determination of the karyotype and a detailed study of the ultrasound anatomy of the fetus. Detection of isolated ASD in the prenatal period does not require a change in the tactics of pregnancy and childbirth. In late pregnancy, a dynamic assessment of the condition of the fetus should be carried out.

Ventricular septal defect(DMZHP). Represents a deficiency of the septum dividing the ventricles. By localization, defects are distinguished in the upper part of the septum (at the level of the mitral and tricuspid valves), the muscular part and the outlet part of the septum (subaortic, subpulmonary). In terms of size, VSDs are divided into small (up to 4 mm) and large. VSD can be isolated or combined with other abnormalities, chromosomal defects, and hereditary syndromes. In the general structure of congenital heart defects, about 20% is accounted for by isolated VSD, which is the most frequently diagnosed defect. The frequency of small, hemodynamically insignificant, muscle defects reaches 53: 1000 live births. About 90% of these defects spontaneously close by 10 months of age and do not affect the prognosis for life and health.

Most small VSDs are not detected during prenatal fetal ultrasound. Diagnosis can only be made using multiple cross-sections and color Doppler mapping. Most often, VSD is isolated, but it can be combined with chromosomal abnormalities, gene disorders, multiple malformations syndromes. Prenatal examination upon detection of VSD should include the determination of the karyotype and a detailed study of the ultrasound anatomy of the fetus. Identification of isolated VSD in the prenatal period does not require a change in the tactics of pregnancy and childbirth. In late pregnancy, a dynamic assessment of the condition of the fetus should be carried out. If VSD is suspected, parents need to provide full information about the prognosis for the life and health of the unborn child and notify the pediatrician to ensure adequate monitoring of the newborn. Even with large VSDs, the disease can sometimes be asymptomatic for up to 2-8 weeks. In 50% of cases, small defects spontaneously close before the age of 5 years, and of the remaining 80% they disappear in adolescence. Most patients with uncomplicated VSD have a good prognosis for life and health. With a favorable course

disease, significant restrictions on physical activity are not required.

Ebstein's anomaly- congenital heart disease, characterized by abnormal development and location of the tricuspid valve cusps. With Ebstein's anomaly, the septal and posterior sails of the tricuspid valve develop directly from the endocardium of the right ventricle of the heart, which leads to the displacement of the abnormal valve deep into the right ventricle and the division of the ventricle into two sections: distal (subvalvular) - active and proximal (supravalvular or atrialized) - passive. The supravalvular section, connecting with the right atrium, forms a single functional formation. Ebstein's anomaly accounts for 0.5% of all congenital heart defects. Ebstein's anomaly can be easily diagnosed by examining the standard four-chambered heart of the fetus, since it is almost always accompanied by cardiomegaly. Prenatal diagnosis of the defect is based on the detection of a significantly enlarged right heart due to the right atrium. The key point in the diagnosis of Ebstein's anomaly is visualization of the displaced tricuspid valve against the background of the dilated right atrium and normal right ventricular myocardium. An important prognostic value in Ebstein's anomaly is the detection of tricuspid regurgitation during Doppler echocardiographic examination of the fetus. The earliest prenatal ultrasound diagnosis of Ebstein's anomaly was performed at 18-19 weeks of gestation. The prognosis for life with Ebstein's anomaly is usually favorable in cases where children survive during the first year of life without surgical treatment. Ebstein's anomaly is not often associated with chromosomal aberrations and multiple congenital malformations. Extracardiac anomalies are observed in 25%. Outcome in the neonatal period depends on the severity of changes in the tricuspid valve. Children with severe tricuspid valve insufficiency have a high percentage of deaths. Clinically, tricuspid valve insufficiency is manifested by increased cyanosis, acidosis, and signs of heart failure. Surgical treatment is indicated in patients with severe symptoms of the disease that interfere with the normal life of the child. The operation includes the closure of the septal

defect, plastic of the tricuspid valve and its movement to a typical place. Hospital mortality is 6.3%.

Fallot's tetrad- a complex defect, including several anomalies of the structure of the heart: a defect of the interventricular septum, dextraposition of the aorta, obstruction of the outlet of the pulmonary artery and hypertrophy of the right ventricle. In the general structure of congenital heart defects in live births, Fallot's tetrad is 4-11%. It is very difficult to diagnose Fallot's tetrad when examining the four-chambered heart of the fetus. Using sections through the outlet of the main arteries, typical subaortic VSD and aortic dextraposition can be detected. An important additional criterion is the expansion and displacement of the aortic root. Fallot's tetrad is a blue defect, i.e. in newborns, pronounced cyanosis is determined at the age of 6 weeks to 6 months. Fallot's tetralogy refers to difficult-to-diagnose heart defects that often remain undetected by screening ultrasound in the period up to 22 weeks of gestation. Most often, this defect is diagnosed in the third trimester of pregnancy or after birth. Fallot's tetrad does not require specific management tactics. When this pathology is detected, a comprehensive examination and prenatal counseling is necessary. Almost 30% of live births with tetralogy of Fallot have combined extracardiac anomalies. Currently, more than 30 syndromes of multiple malformations have been described, the structure of which includes Fallot's tetrad. Prenatal examination upon detection of Fallot's tetrad should include the determination of the karyotype and a detailed study of the ultrasound anatomy of the fetus. The prognosis for life with Fallot's tetrad largely depends on the degree of obstruction of the right ventricular outflow tract. More than 90% of patients who have undergone a complete correction of Fallot's tetrad survive to adulthood. In the long-term period, 80% of patients feel satisfactory and have normal functional parameters.

Transposition of the great arteries- a heart defect in which the aorta or most of it leaves the right ventricle, and the pulmonary artery - from the left ventricle. It accounts for 5-7% of all congenital heart defects. Usually not diagnosed in the prenatal period during screening examination, since the study of the fetal heart is limited to the study

only a four-chamber cut. To identify the defect, it is necessary to visualize the great vessels with the study of their location relative to each other. Normally, the main arteries intersect, and during transposition they leave the ventricles in parallel: the aorta from the right ventricle, the pulmonary artery from the left. Transposition of the main arteries with intact interventricular and interatrial septa is incompatible with life. About 8% of live births with transposition of the main arteries have associated extracardiac anomalies. Prenatal examination should include determination of the karyotype and detailed examination of the fetal ultrasound anatomy. In most newborns with transposition of the main arteries and an intact interventricular septum, pronounced cyanosis is noted from the first days of life. Surgical correction should be performed as soon as inadequate mixing of blood flows is detected. The mortality rate of newborns with this type of surgical treatment is less than 5-10%.

DISEASES OF THE ORGANS OF THE BREAST

Congenital diaphragmatic hernia- a defect resulting from a slowdown in the closure of the pleuroperitoneal canal. With this defect, there is usually a lack of development of the posterolateral portion of the left half of the diaphragm. The lack of separation between the abdominal cavity and the chest leads to the movement of the stomach, spleen, intestines and even the liver into the chest cavity, which can be accompanied by a displacement of the mediastinum and cause compression of the lungs. As a result, bilateral pulmonary hypoplasia of varying severity often develops. Underdevelopment of the lungs leads to abnormal formation of their vascular system and secondary pulmonary hypertension. Congenital diaphragmatic hernia occurs in about 1 in 2,400 newborns.

There are four main types of defect: posterolateral (Bochdalek's hernia), anterolateral, sternal and Morgagni's hernia. Bilateral diaphragmatic hernias account for 1% of all types of defects. The movement of the heart to the right half of the chest in combination with an echo-negative structure (stomach) in its left half is most often diagnosed with a left-sided diaphragmatic hernia.

With right-sided hernias, the heart is usually displaced to the left. The intestines and liver can also be visualized in the chest. With this defect, polyhydramnios is often noted. Concomitant abnormalities are observed in 23% of fetuses. Among them, congenital heart defects prevail, accounting for 16%. Diagnosis of the defect can be carried out as early as 14 weeks of pregnancy. Mortality in congenital diaphragmatic hernia correlates with the time of detection of the defect: only 33% of newborns with a defect survive in cases where the diagnosis was made before 25 weeks, and 67% if the hernia was detected at a later date. Diaphragmatic defects usually have a multifactorial origin, but 12% of cases are associated with other malformations or are part of chromosomal and nonchromosomal syndromes. Prenatal examination must necessarily include the determination of the karyotype of the fetus and a detailed ultrasound examination. If combined anomalies are found, differential diagnosis can be carried out only during a consultation with the involvement of geneticists, syndromologists, pediatricians. Parents should be advised to consult a pediatric surgeon to discuss the features of treatment tactics in the neonatal period, the prognosis for life and health. The course of the neonatal period depends on the severity of pulmonary hypoplasia and the severity of hypertension. The size of the hernial mass and the volume of functioning lung tissue also have a significant impact on the outcome in the neonatal period. Abnormal development of the lungs can be predicted in the presence of polyhydramnios, gastric dilatation, as well as the movement of the fetal liver into the chest cavity. According to the literature, only 22% of children diagnosed prenatally survived. Even with an isolated congenital diaphragmatic hernia, only 40% survive. Newborn death usually results from pulmonary hypertension and / or respiratory failure.

Abdominal wall abnormalities and malformations of the gastrointestinal tract

Omphalocele (umbilical hernia)(fig. 32). It occurs as a result of the non-return of the abdominal organs from the amniotic cavity through the umbilical ring. The omphalocele may contain any

Rice. 32. Echographic picture of omphalocele (a hernial sac containing intestinal loops and liver is visualized)

visceral organs. The size of the hernial formation is determined by its contents.

It is covered with an amnioperitoneal membrane, along the lateral surface of which the vessels of the umbilical cord pass. The incidence of omphalocele is 1 in 3000-6000 newborns. Distinguish between isolated and combined forms of omphalocele. This pathology is accompanied by trisomies in 35-58%, congenital heart defects in 47%, malformations of the genitourinary system in 40%, and neural tube defects in 39%. Intrauterine growth retardation is detected in 20% of cases.

Prenatal ultrasound diagnostics is based on the detection of a round or oval formation, filled with abdominal organs and adjacent directly to the anterior abdominal wall. Most often, the hernial contents include intestinal loops and the liver. The umbilical cord is attached directly to the hernial sac. In some cases, prenatal diagnosis can be made at the end of the first trimester of pregnancy, although in most cases omphalocele is detected in the second trimester. The prognosis depends on the accompanying anomalies. Perinatal losses are more often associated with CHD, chromosomal

aberrations and prematurity. The largest defect is eliminated by a one-stage operation, with a large one, multi-stage operations are performed in order to close the opening in the anterior abdominal wall with a silicone or Teflon membrane. Obstetric tactics are determined by the time of detection of the defect, the presence of combined anomalies and chromosomal abnormalities. If a defect is found in the early stages of pregnancy, it should be terminated. In the case of identifying concomitant anomalies incompatible with life, it is necessary to terminate the pregnancy at any time. The method of delivery depends on the viability of the fetus, since during childbirth with large omphaloceles, rupture of the hernial sac and infection of the internal organs of the fetus can occur.

Gastroschisis- defect of the anterior abdominal wall in the peri-umbilical region with the occurrence of intestinal loops covered with inflammatory exudate. The defect is usually located to the right of the navel; the hernial organs do not have a membrane. The incidence of gastroschisis is 0.94: 10,000 newborns. The incidence of defect in pregnant women under 20 years of age is higher and is 7 per 10,000 newborns.

Since the late 70s. XX century in Europe and the USA, the trend towards an increase in the frequency of birth of children with gastroschisis persists. There are isolated and combined forms. Isolated gastroschisis is more common and accounts for an average of 79%. The combined form is detected in 10-30% of cases and most often is a combination of gastroschisis with atresia or intestinal stenosis. Among other anomalies, congenital heart and urinary system defects, syndrome prune-belly, hydrocephalus, low and polyhydramnios.

The anomaly occurs sporadically, but there have been observations of a familial disease with an autosomal dominant mode of inheritance.

The earliest prenatal ultrasound diagnosis using transvaginal echography was performed at 12 weeks of gestation. In most cases, the diagnosis is established in the second trimester of pregnancy, since in the early stages (10-13 weeks) false positive diagnosis is possible due to the presence of a physiological intestinal hernia in the fetus. Prenatal ultrasound diagnosis of gastroschisis is usually based on visualization of bowel loops in the amniotic fluid near the anterior abdominal wall of the fetus. Sometimes, in addition to the intestinal loops, outside

Other organs can be located in the abdominal cavity. The accuracy of ultrasound diagnostics of gastroschisis in the II and III trimesters of pregnancy varies from 70 to 95% and depends on the gestational age, the position of the fetus, the size of the defect and the number of organs outside the anterior abdominal wall.

The general prognosis for newborns with isolated gastroschisis is favorable: more than 90% of children survive. With prolongation of pregnancy, the tactics of management in the II trimester has no peculiarities. Due to the low frequency of the combination of isolated gastroschisis with chromosomal abnormalities, prenatal karyotyping can be refrained from. In the third trimester of pregnancy, it is necessary to carry out a dynamic assessment of the functional state of the fetus, since the frequency of distress in gastroschisis is quite high and in 23-50% of cases, intrauterine growth retardation of the fetus is formed.

If gastroschisis is detected before the onset of the period of fetal viability, an abortion should be performed. For full-term pregnancies, childbirth is performed in an institution where surgical assistance can be provided.

Duodenal atresia- the most common cause of small bowel obstruction. The frequency of the anomaly is 1: 10,000 live births. The etiology is unknown. The occurrence of a defect under the influence of teratogenic factors is possible. Family observations of pyloroduodenal atresia with an autosomal recessive mode of inheritance are described. In 30-52% of patients, the anomaly is isolated, and in 37%, malformations of the skeletal system are found: abnormal number of ribs, agenesis of the sacrum, equine foot, bilateral cervical ribs, bilateral absence of the first fingers of the hands, etc. In 2%, combined gastrointestinal anomalies are diagnosed: incomplete rotation of the stomach, atresia of the esophagus, ileum and anus, liver transposition. In 8-20% of patients, congenital heart defects are detected, in approximately 1/3 of observations, duodenal atresia is combined with trisomy on 21 pairs of chromosomes. The main prenatal echographic findings in duodenal atresia are polyhydramnios and a classic sign "Double bubble" in the abdominal cavity of the fetus. The image of the "double bladder" appears as a result of the expansion of part of the duodenum and stomach. The constriction between these formations is formed by the pyloric part of the stomach

ka and is of great importance for accurate prenatal diagnosis of this defect. In the overwhelming majority of cases, duodenal atresia is diagnosed in the II and III trimesters of pregnancy. At an earlier date, the diagnosis of this defect presents significant difficulties. The earliest diagnosis of duodenal atresia was made at 14 weeks.

To determine obstetric tactics, a detailed ultrasound assessment of the anatomy of the internal organs of the fetus and its karyotyping are performed. Before the onset of the period of fetal viability, termination of pregnancy is indicated. If an isolated anomaly is found in the third trimester, it is possible to prolong the pregnancy with subsequent delivery in the regional perinatal center and surgical correction of the malformation.

Isolated ascites. Ascites is the accumulation of fluid in the peritoneal cavity. The frequency has not been set exactly. With ultrasound examination of the fetus, ascites is manifested by the presence of an echo-negative space with a thickness of 5 mm or more in the abdominal cavity. In the prenatal period, ascites can be isolated or be one of the signs of dropsy of non-immune genesis. In addition to ascites, fetal dropsy is characterized by the presence of subcutaneous edema, pleural and pericardial effusions, as well as an increase in the thickness of the placenta more than 6 cm, polyhydramnios and hydrocele.

Ascites can be combined with various structural abnormalities, therefore, a careful study of all internal organs of the fetus is shown. Among the causes of isolated ascites, meconium peritonitis and congenital hepatitis should be distinguished.

Until now, there have been no publications in the literature on the detection of isolated ascites in the first trimester of pregnancy. Most observations of early diagnosis of ascites occur at the beginning of the second trimester of pregnancy. One of the most common causes of non-immune dropsy is chromosomal abnormalities. In isolated ascites, chromosomal defects are detected less often, but they must be taken into account as a possible background for the development of this pathology. When ascites is detected in the fetus, it is first of all necessary to exclude combined anomalies and intrauterine infections. The course of fetal ascites depends on its etiology. Idiopathic isolated ascites has a favorable prognosis. More than 50% of observations show its spontaneous disappearance. The most common cause of isolated ascites is intrauterine infection.

parvovirus B19. With prolongation of pregnancy, it is necessary to carry out dynamic echographic observation, including Doppler assessment of blood flow in the venous duct. At normal values ​​of blood flow in the ductus venosus in fetuses with ascites, in most cases, there is a favorable perinatal outcome. With an increase in ascites, some authors recommend a therapeutic puncture, especially in cases where the process progresses in the late stages of pregnancy. The main purpose of puncture is to prevent discoordinated labor and respiratory distress in the neonatal period. If isolated ascites is detected in the prenatal period and the exclusion of concomitant pathology that is incompatible with life, after childbirth, the child needs careful dynamic observation and symptomatic therapy.

FAULTS OF KIDNEY AND URINARY TRACT

Renal agenesis- complete absence of both kidneys. The appearance of a defect is due to a disruption in the sequential chain of processes of normal embryogenesis from pronephros to metanephros. The frequency averages 1: 4500 newborns. It is noted that it is found twice as often in boys. The pathognomonic triad of echographic signs of kidney agenesis in the fetus is represented by the absence of their echo and urinary bladder, as well as severe oligohydramnios. Low water refers to late manifestations and can be detected after 16-18 weeks of pregnancy. Usually, bilateral renal agenesis is accompanied by a symmetrical form of fetal growth retardation syndrome. Renal agenesis is most often sporadic, but it can be combined with various anomalies of internal organs. The direct consequences of oligohydramnios are lung hypoplasia, skeletal and facial deformities, fetal growth retardation syndrome. Renal agenesis has been described in more than 140 syndromes of multiple congenital malformations, chromosomal abnormalities and teratogenic effects. Once the diagnosis has been established, karyotyping should be performed in the prenatal period or after birth to exclude chromosomal abnormalities. In all cases of renal agenesis, it is necessary to carry out a complete postmortem examination. Shown carrying out echographic

kidney examinations of the next of kin. In case of prenatal detection of a defect, termination of pregnancy at any time should be recommended. If the family decides to prolong the pregnancy, conservative obstetric tactics are indicated.

Autosomal recessive polycystic kidney disease (infantile form). It is manifested by bilateral symmetric enlargement of the kidneys as a result of the replacement of the parenchyma with secondary dilated collecting tubules without proliferation of connective tissue. Varies from the classic lethal variant to the infantile, juvenile and even adult form. In the infantile form, there is a secondary dilation and hyperplasia of the normally formed collecting tubules of the kidneys. The kidneys are affected symmetrically, while the cystic formations are 1-2 mm in size. The frequency is 1.3-5.9: 1000 newborns. The main echographic criteria of the defect are enlarged hyperechoic kidneys, absence of echogenicity of the bladder and oligohydramnios. The increase in the size of the kidneys is sometimes so significant that they occupy a large part of the cross-section of the abdomen of the fetus. The typical echographic picture may not appear until the third trimester of pregnancy. The prognosis is unfavorable. Death occurs from kidney failure. Obstetric tactics are to terminate pregnancy at any time.

Adult polycystic kidney disease(autosomal dominant disease, adult hepatorenal polycystic disease, type III Potter syndrome) is characterized by replacement of the renal parenchyma with numerous cysts of different sizes, which are formed as a result of the expansion of the collecting tubules and other tubular segments of the nephron. The kidneys are affected on both sides and are enlarged, but a one-sided process may be the first manifestation of the disease. The liver is also involved in the pathological process - periportal fibrosis develops, which has a focal character. The etiology of the disease is unknown, but the type of inheritance determines a 50% risk of developing the disease, and its genetic focus is located on the 16th pair of chromosomes. The mutant gene is carried by one in 1000 people. Gene penetration occurs in 100% of cases, but the course of the disease can vary from severe forms with fatal outcome in the neonatal period to asymptomatic, detected only at autopsy.

Polycystic kidney disease(multicystic disease, cystic kidney disease, type II Potter syndrome, dysplastic kidney disease) is characterized by cystic degeneration of the renal parenchyma due to primary dilatation of the renal tubules. In multicystic renal dysplasia, the ureter and pelvis are most often atresized or absent. The process can be two-way, one-way and segmental. In multicystic dysplasia, the kidney is usually significantly enlarged; normal shape and normal tissue are missing. The kidney is represented by multiple cysts with anechoic contents (Fig. 33).

Rice. 33. Echogram of bilateral polycystic kidney disease of the fetus (sharply enlarged kidneys containing multiple cysts of different diameters - indicated by an arrow)

The sizes of cysts vary in a fairly wide range and depend on the duration of pregnancy. Closer to full-term term, the diameter of the cysts can reach 3.5-4 cm. The bladder is usually visualized in a unilateral process and not visualized in a bilateral process. With a bilateral process, oligohydramnios is usually noted. The disease occurs mainly sporadically and can be secondary in combination with other syndromes. Obstetric

the tactics for a bilateral process diagnosed at an early stage, due to a poor prognosis, is to terminate the pregnancy. With a unilateral process and a normal karyotype without associated anomalies, a normal delivery is indicated, followed by the child's consultation with a specialist.

Dilation of the urinary tract. Anomalies of the genitourinary system in the fetus, accompanied by an expansion of the urinary tract, can be caused by various causes, including vesicoureteral reflux, idiopathic pyeloectasia, obstructive disorders, etc. From a clinical point of view, in the prenatal period, it is advisable to isolate pyelectasia and obstructive uropathy.

Pyelectasis. Pyelectasis is characterized by excess fluid accumulation and enlargement of the fetal renal pelvis.

Pyelectasis is the most common finding on fetal ultrasound. The frequency of its development has not been established, since this pathology is a sporadic phenomenon. After birth, boys are diagnosed with it 5 times more often. In 27% of children with hydronephrosis, vesicoureteral reflux, bilateral ureteral doubling, bilateral obstructive megaureter, non-functioning contralateral kidney and its agenesis are revealed, in 19% - developmental anomalies of various organs. For prenatal ultrasound diagnosis of pyeloectasia, the kidneys of the fetus should be examined both in transverse and longitudinal scanning. Dilatation of the renal pelvis is judged on the basis of its anteroposterior size during transverse scanning of the kidney. Most researchers consider the expansion of the renal pelvis to be pyelectasis in the II trimester of pregnancy more than 5 mm, and in the III trimester - more than 8 mm. With the expansion of the renal pelvis of the fetus over 10 mm, it is customary to talk about hydronephrosis. The most common classification of hydronephrosis in the fetus is as follows:

Grade I (physiological dilatation):

Renal pelvis: anteroposterior size<1 см;

Cortex: not changed.

Grade II:

Renal pelvis: 1.0-1.5 cm;

Cups: not visualized;

Cortex: not changed.

Grade III:

Renal pelvis: anteroposterior dimension> 1.5 cm;

Cups: slightly dilated;

Cortex: not changed.

Grade IV:

Renal pelvis: anteroposterior dimension> 1.5 cm;

Calyx: Moderately dilated;

Cortical layer: slightly changed.

Grade V:

Renal pelvis: anteroposterior dimension> 1.5 cm;

Cups: greatly expanded;

Cortex: atrophy.

The expansion of the renal pelvis of the fetus can be observed with various chromosomal abnormalities. The frequency of chromosomal defects in fetuses with pyelectasis is on average 8%. In most fetuses with chromosomal abnormalities, a combination of pyelectasia and other developmental abnormalities is revealed. Moderate pyelectasis has a good prognosis and the need for surgical treatment after childbirth is rare. In most cases, spontaneous resolution of moderately severe pyelectasis after childbirth is noted.

Obstetric tactics depend on the time of occurrence and duration of the course of the pathological process, as well as the degree of impaired renal function. Premature delivery is justified with oligohydramnios. In the postnatal period, dynamic observation and consultation of a pediatric urologist is shown.

Obstructive uropathy. Obstruction of the urinary tract in the fetus can be observed at any level: high obstruction, obstruction at the level of the pelvic-ureteric junction (PLL), obstruction at the middle level (ureter), obstruction at the level of the vesicoureteral junction (PBJ), low obstruction (urethra). ALMS is the most common cause of obstructive uropathy in the fetus and accounts for an average of 50% of all congenital urological anomalies. The main echographic signs of ALMS include dilatation of the renal pelvis with or without dilatation of the calyces; the ureters are not visualized; the bladder may be of normal size or may not be visualized in some observations. The tactics in OLMS should be wait-and-see. Placement of a vesico-amniotic shunt is not indicated. To ultrasonic cry-

Ureter dilatation and pyeloectasia are referred to as OPMS in the fetus. The bladder is usually of normal size. The management tactics are similar to those for OLMS. The most common cause of low obstruction is posterior urethral valves. With severe obstruction, oligohydramnios is observed, leading to hypoplasia of the lungs, deformations of the facial structures and limbs, fibrosis and dysplasia of the renal parenchyma. The echographic picture is characterized by the presence of a dilated urethra proximal to the obstruction site, pronounced expansion of the bladder. Prenatal management for low obstruction depends on the duration of pregnancy, the presence of oligohydramnios and associated abnormalities, as well as the functional state of the kidneys. With moderate and non-progressive pyelectasis, conservative tactics should be followed. With the progression of obstructive disorders, delivery is justified with possible surgical correction of the defect to prevent severe renal disorders in the fetus. In case of premature pregnancy in fetuses with severe obstructive uropathy, intrauterine surgical correction of the defect can be performed.

DISEASES OF DEVELOPMENT OF THE BONE SYSTEM

Among the congenital malformations of the skeletal system, the most common are amelia (aplasia of all limbs); phocomelia (underdevelopment of the proximal extremities, while the hands and feet are connected directly to the body); aplasia of one of the bones of the lower leg or forearm; polydactyly (an increase in the number of fingers on a limb); syndactyly (a decrease in the number of fingers due to the fusion of soft tissues or bone tissue of adjacent fingers); abnormal stop position; osteochondrodysplasias, characterized by abnormalities in the growth and development of cartilage and / or bones (achondrogenesis, achondroplasia, thanatoform dysplasia, osteogenesis imperfecta, hypophosphatasia, etc.).

The most important is the diagnosis of vices incompatible with life. Many forms of skeletal dysplasia are combined with hypoplasia of the lungs due to the small size of the chest due to underdevelopment of the ribs. The development of pulmonary insufficiency in this case can be the cause of death of children in the first hours of extrauterine life.

Achondroplasia is one of the most common non-lethal skeletal dysplasias and is caused by a new mutation in 90% of cases. Achondroplasia is osteochondroplasia with defects in the tubular bones and / or axial skeleton. The frequency is 0.24-5: 10,000 deliveries. The ratio of male to female fetuses is 1: 1. The shortening of bones with achondroplasia may not appear in the fetus until 24 weeks of gestation. The classic echographic picture includes short limbs (less than the 5th percentile), small chest sizes, macrocephaly, and saddle nose. Life expectancy with achondroplasia depends primarily on the time when small chest sizes do not cause serious respiratory problems. Intellectual development with the defect is normal, but there is a high risk of neurological disorders, in particular, compression of the spinal cord at the level of the foramen magnum, which can limit physical activity. Macrocephalus may result from moderate hydrocephalus due to the small size of the foramen magnum. Achondroplasia is a well-studied and common type of congenital dwarfism in newborns. Central and obstructive sleep apnea can be serious problems. At the age of 6-7 years of life, chronic recurrent infections of the middle ear are often noted. In early childhood, curvature of the lower extremities is also often observed, which, in severe conditions, requires surgical correction. Usually, the height of adults with achondroplasia varies from 106 to 142 cm.

AFP is the main component of the liquid part of the blood (serum) of the developing fetus. This protein is produced by the yolk sac and the liver of the fetus, enters the amniotic fluid with its urine, enters the mother's blood through the placenta and is absorbed by the membranes. By examining the blood from the mother's vein, one can judge the amount of alpha-fetoprotein produced and excreted by the fetus. AFP is found in the mother's blood from the 5-6th week of pregnancy. The amount of AFP in the mother's blood changes with a more massive release of this component. So, if any sections of the neural tube are not clogged, a larger amount of the baby's serum is poured into the amniotic cavity and enters the mother's blood.

The increased content of AFP is determined in maternal blood:

• with defects in the neural tube overgrowth - hernia of the spinal cord or brain;
• with defects in the overgrowth of the anterior abdominal wall, when its muscles and skin do not cover the internal organs, and the intestines and other organs are closed with a thin film of the stretched umbilical cord (gastroschisis);
• with kidney anomalies;
• when the duodenum is infected.

It must be said that an increase in the amount of AFP by a factor of 2.5 or more compared to the average for a given gestational age is significant for diagnostics. For example, with anencephaly (no brain), the AFP level rises approximately 7 times.

But a change in the AFP level does not necessarily indicate any fetal pathology. It can also be observed in conditions such as the threat of termination of pregnancy in fetoplacental insufficiency, when the blood flow between the placenta and the fetus is disturbed, as well as in multiple pregnancies, during which this protein is produced by several fetuses.

In 30% of cases of chromosomal abnormalities, when the fetus has additional chromosomes in one pair or another, which leads to the formation of multiple malformations (Down, Edwards, Shereshevsky-Turner syndromes), the AFP level is reduced.

HCG is a protein produced by chorionic cells (chorion is a part of the embryo from which the placenta is later formed). This protein is detected in a woman's body from the 10-12th day after fertilization. It is his presence that allows you to confirm the onset of pregnancy using a test at home. The reaction that occurs on the test strip is qualitative, that is, it indicates the presence or absence of hCG. The quantitative determination of hCG makes it possible to judge the course of pregnancy: for example, with an ectopic or undeveloped pregnancy, the rate of increase in hCG does not correspond to the norm. At the beginning of the second trimester, the level of chorionic gonadotropin is used as one of the diagnostic signs of malformations and chromosomal abnormalities of the fetus.
The level of hCG in the blood of a pregnant woman with Down syndrome usually rises, and with Edwards syndrome (a disease characterized by multiple malformations of internal organs and mental retardation), it decreases.

E3. Estriol production begins in the fetal liver and ends in the placenta. Thus, both the fetus and the placenta are involved in the "production" of this substance. By the concentration of E3 in the serum of a pregnant woman, one can judge the condition of the fetus. Normally, estriol levels rise during pregnancy.

WHEN, TO WHOM AND HOW TO DO THE TRIPLE TEST

The triple test is performed between 15 and 20 weeks of gestation. At this time, the indicators of markers of genetic pathology are the most standardized, that is, they are the same for all women whose pregnancy is proceeding normally. In many medical institutions, AFP and hCG (double test) or only AFP are tested. I would like to emphasize that in the study of any one component of the triple test, the diagnostic significance of the study decreases, since a deviation from the norm of only one of the indicators cannot reliably indicate fetal pathology. In general, the diagnostic value of the triple test is up to 90% for detecting malformations of the nervous system, 60-70% for detecting chromosomal diseases.

Currently, examination for markers of genetic pathology is mandatory for all pregnant women, but, unfortunately, the equipment of ordinary state medical institutions (antenatal clinics) in most cases allows only one or two components of the triple test to be examined. If abnormalities are found, the patient is referred to a geneticist for further examination.

There is a group of pregnant women who are prescribed a geneticist consultation regardless of the test results: this is the so-called risk group, in which the likelihood of having children with congenital malformations and chromosomal abnormalities is higher than in the general population.
Risk factors include:

• the woman's age is over 35 years old,
• cases of family carriage of chromosomal diseases,
• the birth of previous children with developmental disabilities,
• radiation exposure of one of the spouses,
• taking cytostatics or antiepileptic drugs,
• habitual miscarriage,
• determination of signs of fetal pathology by ultrasound.

If deviations are found, it is advisable to repeat the analysis; if, at the same time, the indicators maintain a tendency to decrease or increase, additional research is carried out. It is better to pass the test at the beginning of the specified period, i.e. at 15-16 weeks in order to be able to repeat the examination if necessary and confirm or refute certain assumptions.

A particular concern is caused by a decrease in AFP in combination with a persistent increase in the level of hCG. This combination makes it possible to suspect that the child has Down syndrome. But only in 60% of cases, women carrying a fetus with Down syndrome have pathological indicators of the triple test; in 40% of cases, there are no deviations of laboratory parameters.

It should be emphasized that the study of markers of genetic pathology is screening, that is, it is carried out for all pregnant women to identify a risk group (in other words, you may not even suspect that this analysis was taken from you as part of a general pregnancy examination).

Patients from the risk group undergo more detailed diagnostics of fetal malformations, chromosomal pathology: as part of medical and genetic counseling, they are prescribed an additional ultrasound examination, and methods of invasive (with penetration into the amniotic cavity) diagnostics are offered. The most reliable way to make a diagnosis is to study the chromosomal set of fetal cells. To obtain fetal cells, the anterior abdominal wall is pierced with a thin needle, amniotic fluid is taken, which contains fetal cells (amniocentesis) or fetal umbilical cord blood (cordocentesis). When conducting invasive diagnostic methods, the risk of fetal loss is significantly increased; in addition, as with any surgical intervention, there is a risk of infection. Therefore, invasive techniques are contraindicated in the event of a threat of termination of pregnancy and in acute infectious diseases.

Given the time frame in which it is customary to perform a triple test, sometimes the question arises about the advisability of this analysis, because the terms of a medical abortion are limited to the 12th week. In this regard, it should be remembered that every woman who carries a baby under her heart, at one stage or another of pregnancy, doubts about the usefulness of the unborn child. The triple test will help you dispel unpleasant thoughts, and if changes in markers of the genetic pathology of the fetus are detected, additional examinations will take place in time. If unpleasant assumptions are confirmed, it will be possible to terminate the pregnancy or, at least, prepare for the fact that immediately after birth, the child may need surgery to correct the detected malformations. At the same time, remember that the doctor has the right to offer one or another option for pregnancy management, and the family makes the final decision in any case.

Pregnancy is a wonderful period in the life of every woman - anxious expectation of the birth of a new person. Every minute the mother listens attentively to her child, rejoices at his every movement, responsibly passes all the tests and patiently waits for the results. And any woman dreams of hearing that her child is absolutely healthy. But, unfortunately, not every parent hears this phrase.

In medical practice, there are various types of fetal pathologies that are established in different trimesters of pregnancy and pose a serious question to parents whether to leave the child or not. Developmental problems can be of two types: acquired and congenital.

About the types of pathologies

As mentioned earlier, pathologies are:

• Congenital.
• Purchased.

The cause of the deviations can be both genetic and external factors. Congenital ones appear even at the stage of conception, and with proper medical qualifications of a doctor, they are detected at the earliest possible date. But acquired ones can appear at any time of fetal development, they are diagnosed at any stage of pregnancy.

Congenital pathologies and their varieties

All fetal congenital malformations associated with genetics are called trisomies by doctors. They appear at the first stages of intrauterine development and mean deviations from the number of chromosomes in the child. Such pathologies are:

• Patau Syndrome. With this diagnosis, there is a problem with chromosome 13. This syndrome manifests itself with a variety of malformations, multiple fingers, deafness, idiocy and problems with the reproductive system. Unfortunately, children with this diagnosis have little chance of surviving until the age of one.
• Down syndrome is a notorious diagnosis that has resonated strongly in society for many years. Children with this syndrome have a specific appearance, suffer from dementia and growth retardation. Disorders occur with 21 chromosomes.
• Edwards syndrome is fatal in most cases, only 10% of newborns survive to one year. Due to the pathology of the 18th chromosome, children are born with noticeable external abnormalities: small eye slits, deformed ear shells, a miniature mouth.

• Klinefelter's syndrome is characteristic of boys and is expressed by mental retardation, infertility, and lack of body hair.
• Girls suffer from Shereshevsky-Turner syndrome. Short stature, disorders of the somatic system, as well as infertility and other disorders of the reproductive system are observed.
• Polysomies on the X- and Y-chromosomes are expressed by a slight decrease in intelligence, the development of psychosis and schizophrenia.

Sometimes doctors diagnose a disorder such as polyploidy. Such violations promise a lethal outcome for the fetus.

If the cause of fetal pathology is in gene mutations, then it can no longer be cured or corrected. When children are born, they are simply obliged to live with them, and parents, as a rule, sacrifice a lot in order to provide them with a dignified existence. Of course, there are great examples of people who, even with a diagnosis of Down syndrome, became famous throughout the world for their talent. However, you need to understand that these are rather happy exceptions than common cases.

If we talk about the acquired VLOOKUP

It also happens that fetal congenital malformations are diagnosed in a genetically healthy child. The reason is that deviations can develop under the influence of a wide variety of external factors. Most often these are diseases transferred by the mother during the period of gestation, a harmful environmental situation, or an unhealthy lifestyle of the parents. Such acquired pathologies can "hit" absolutely any system in the body of the fetus.

The most popular disorders include the following pathologies:

VLOOKUP for no specific reason

The acquired deviations can also include those pathologies, the causes of which remain a mystery to doctors:

• Multiplicity (the most famous cases are the birth of Siamese twins).
• Deviation of the placenta (hyper- and hypoplasia associated with its weight).
• High or low water content of intrauterine fluid.
• Umbilical cord pathology (motley cases from variations in length to problems with nodes and attachments. Thrombosis or cyst also occurs - all this can lead to the death of the child).

Any of these pathologies requires a responsible approach to monitoring the fetus. So that parents never hear the terrible conclusion of a doctor, during the period of the alleged conception and bearing of a future family member, all negative factors that can cause pathology should be excluded from their lives to the maximum.

What are the causes of fetal congenital malformations?

To protect your unborn child from deviations, you must first figure out what can be the reason for the developmental disorders of the baby. Prevention of fetal congenital malformations includes the mandatory exclusion of all possible factors provoking genetic or acquired changes.

The importance of prenatal diagnosis

Many people learn what a fetal congenital malformation is during pregnancy only after prenatal diagnosis. Such a measure is necessary for bearing a healthy baby. So why is this examination so important and how is it done?

When the diagnosis of congenital malformations of the fetus is carried out, the first step is screening of pathology - a set of procedures that every expectant mother undergoes at a period of 12, 20 and 30 weeks. In other words, it is an ultrasound examination. Sad statistics suggests that many will find out what a fetal congenital malformation is on an ultrasound scan. An important step in the check is extensive blood tests.

Who are at risk?

Experts identify a special group of women who have a high percentage of risk of having an unhealthy child. At the first examination, blood is taken from them for tests and a deep diagnosis is prescribed for the possible presence of pathologies. Most often, expectant mothers who:

• Over the age of 35.
• Receive serious medication during pregnancy.
• We got under radiation exposure.
• Have already experienced pregnancy with a child with disabilities or if they have a relative with genetic abnormalities.
• A history of miscarriages, missed pregnancies or stillbirths.

About forecasts

No competent doctor will be able to make a diagnosis with 100% accuracy without the necessary medical examinations. Even after receiving the opinion, the specialist gives only recommendations, and the decision remains with the parents. In case of anomalies that will inevitably lead to the death of the child (and in some cases, the danger to the life of the mother), they offer to have an abortion. If the matter is limited to only subtle external anomalies, then it will be quite possible to do with plastic surgery in the future. Diagnoses defy generalization and are entirely individual.

You can do the right thing only after rational deliberation, weighing all the pros and cons on the scales.

Conclusion

With minor anomalies and mutations with which a child can live a full life, timely medical assistance and modern scientific advances work wonders. In no case should you lose heart and you should always hope for the best, fully relying on the professional opinion of the doctor.