What is VPR in a child. Congenital malformations of the fetus. Wrong way of life

The birth of a child with birth defects always stuns the family; this topic is one of the most difficult in obstetrics. Spouses at the first moment experience an incomparable psychological shock, which then turns into a feeling of guilt, it seems to them that they will never have healthy child.

It should be said right away that a child with congenital defects can be born in absolutely any family - young, healthy, without bad habits, with a normal pregnancy. According to long-term statistics, around 5% of children worldwide are born with congenital diseases.

Congenital malformations of the fetus can be divided into two large groups - hereditary (that is, embedded in genes and chromosomes, inherited) and actually congenital (acquired during prenatal development). Such a division is rather arbitrary, since most developmental defects are caused by a combination of hereditary predisposition and unfavorable external influence, representing multifactorial anomalies.

The problem of congenital malformations of the fetus is very diverse, various specialists are studying this issue - genetics, neonatologists, embryologists, specialists in prenatal (prenatal) diagnostics. Understanding the reasons is always difficult.

hereditary diseases

Mutations are the basis of hereditary diseases. Thanks to modern blood-chilling thrillers, the word now causes almost superstitious horror in many. In fact, the Latin word mutatio means "change" - nothing more. Mutation is a change in the hereditary properties of an organism as a result of rearrangements in the structures responsible for the storage and transmission of genetic information. Diseases associated with pathological changes in chromosomes are usually called chromosomal diseases. Under actually hereditary diseases understand disorders caused by gene mutations.

Table 1 below lists, by way of example, only a few of the hereditary anomalies compatible with life.

Congenital multifactorial malformations

Congenital malformations are very diverse, they can affect almost any organ of the fetus. Various adverse effects on the organs of the fetus, especially in the early stages of pregnancy, lead to their occurrence. Factors that cause fetal malformations are called teratogenic. The most studied types of teratogenic effects are the following:

• ionizing radiation (X-rays, exposure to radioactive isotopes). In addition to a direct effect on the genetic apparatus, ionizing radiation has a toxic effect and is the cause of many congenital anomalies.
• Teratogenic infections , i.e. infectious diseases transmitted from mother to fetus.
• Medicines . There are no drugs that can be unequivocally recognized as completely safe, especially in the early stages of pregnancy. During pregnancy, medications should be taken only as prescribed by the attending physician and taking into account their possible effect on the fetus. (See S. Gonchar "Drugs and Pregnancy" in this issue of the journal. - Approx. ed.) You should not go to the other extreme and not treat follicular tonsillitis or a carious tooth just because "pills are bad for a pregnant woman." It is good for the fetus if the mother feels well!
• Alcohol . Pregnant alcohol consumption in large doses can lead to the development of fetal (ie, affecting the fetus) alcohol syndrome - a severe congenital disease, sometimes incompatible with life. But do not exaggerate the risk - a glass of champagne drunk before conception is not at all a reason to terminate a pregnancy! If you are concerned about the risk of "drunk conception", then be sure to consult a geneticist.
• Nicotine . Smoking a large number of cigarettes during pregnancy leads to a lag in the child's physical development.
• Exposure to toxic chemical substances . Women who, by the nature of their work, come into contact with active chemicals should plan pregnancy. 2-3 months before conception and the entire period of pregnancy (especially up to 14-16 weeks), it is desirable to exclude contact with chemicals that can cause a teratogenic effect in the fetus.

Often, however, such a factor as hereditary predisposition plays a role in the development of congenital malformations: it is known that if parents or close relatives had congenital malformations, then the risk of giving birth to a child with similar defects increases, that is, we are talking about “family accumulation” of anomalies development. So, a woman with a congenital heart defect has a chance of giving birth to a child with a developmental defect of cardio-vascular system slightly higher than all other women. Therefore, it is customary to talk not so much about simply congenital, but about congenital multifactorial malformations . However, a large statistical material shows that the repeated risk of having a child with a congenital malformation is small - an average of 2-4%. Here are some examples of congenital multifactorial malformations compatible with life (see. Table 2).

I would like to emphasize once again that when it comes to congenital malformations, the question “who is to blame?” often remains unanswered, it is more productive to look for an answer to the question “what to do?”. Let's talk about this topic.

What to do, if…

1. You are planning a pregnancy

It is known that the "risk group" in terms of the birth of offspring with congenital diseases includes:

• men and women in whose families this or that hereditary disease has already been encountered - even if they themselves are not sick;
• families where there are already children suffering from congenital malformations;
• families in which previous pregnancies ended in miscarriages or stillbirths;
• spouses who are related (for example, cousins ​​and second cousins);
• women over 35 and men over 50;
• men and women who, due to their occupation, state of health, or for some other reason, are exposed to the above teratogenic factors.

In all these cases, we strongly recommend that partners planning a pregnancy visit a medical genetic consultation. Geneticists will compile a pedigree, determine the risk of having a child with a hereditary disease. The current level of development of medical technologies today allows, in the event of an unfavorable prognosis, to resort to artificial insemination with donor sperm or fertilization of a donor egg. In addition, exposure to teratogenic factors should be avoided or minimized whenever possible.

2. You are expecting a baby

and belong to one of the listed “risk groups”. The first step in this case should also be a visit to a medical genetic consultation. It's not fun to talk about it, but there are - although very rarely - situations when, on the basis of genetics alone, they come to the conclusion that the fetus is afflicted with a disease incompatible with life. In this case, of course, it is recommended to terminate the pregnancy. However, we repeat, these cases are very, very rare. As a rule, the specialists of the medical genetic consultation are not engaged in diagnostics, but in assessing the risk of having a child with severe anomalies, and based on this assessment, they recommend one or another method of prenatal diagnosis. Further, the decision is made depending on the results of the study. How high the risk of giving birth to a child with malformations is actually, only a specialist can decide. Do not rush to have an abortion if you read in the annotation that the drug that you took at the very beginning of pregnancy is not recommended for use during this period; if you have taken alcohol, drugs or have had an acute respiratory viral infection, took an x-ray on the background of pregnancy, etc. Be sure to contact a medical genetic consultation, where they will be able to correctly assess real risk and recommend the necessary set of studies.

3. You had a child with a congenital malformation

The best way to cope with psychological shock is to try to get as much information as possible about the nature of the malformations. Make sure the child is consulted by a geneticist. It is highly desirable that a sick child undergo a cytogenetic study (analysis for a karyotype - a set of features of chromosomes). The more information about a sick child is obtained, the more effective the treatment will be and the more accurately it will be possible to establish a prognosis for the future. It is better to apply for a final medical-genetic consultation on the prognosis for the future in 2-3 months, when the psychological tension will subside and the spouses will be able to perceive this kind of information more objectively. For most families, subsequent pregnancies are successful. The possibilities of prenatal diagnostics add confidence in a successful outcome for both doctors and patients.

It is very difficult for parents to hear that their child has developmental disabilities. This information often becomes known during intrauterine diagnosis. As a rule, the family experiences a severe psychological shock, but even worse, parents often begin to blame themselves for what happened, not hoping that they will ever be able to give birth to a healthy child. Why do birth defects occur, and what lies ahead for children with malformations?

First of all, you need to know: a child with congenital defects can be born in any family, even young and healthy parents. The frequency of these cases reaches 5% according to statistics. Identification of the causes of congenital malformations of the fetus (CM) is one of the most important tasks of medicine, but at the same time it must be said that so far not all of them have been studied and classified. Up to 50% of pathologies cannot be associated with any specific cause. However, much work has already been done in this regard.

Malformations (anomalies, defects) are considered to be functional and structural deviations from the norm. The most severe vices include:

• Congenital heart defects;
• Defects neural tube;
• Down Syndrome.

Fetal malformations: causes

All CMs can be conditionally divided into two large groups: hereditary (gene mutations) and acquired during fetal development. Often, both of these factors can affect the occurrence of CM, and such causes are called multifactorial.

By severity, fetal anomalies can be classified as moderately severe (those that require treatment, but do not threaten the life of the child), severe - requiring immediate treatment and fatal, incompatible with life.

Most CMs occur during the first trimester. Gametopathies are the result of mutations in germ cells or abnormalities in sperm and eggs. Blastopathy develops during the first two weeks after fertilization. Embryopathies are the most common pathologies that occur between 2 and 8 weeks of pregnancy. Finally, fetopathy can occur after 9 weeks - for example, cryptorchidism or organ hypoplasia.

Malformations of the fetus can affect one organ, or several at the same time. Anomalies are systemic respiratory system, nervous, cardiovascular, musculoskeletal, reproductive, urinary and digestive systems. In separate groups, defects such as defects of the face, eyes, ears, neck, palate and lips are distinguished.

Is it possible to assume in advance that a child may have congenital malformations? There are risk groups that include the following categories of parents:

• Families in which children with congenital malformations have already been born;
• Families where parents have blood relatives with CDF;
• Age of parents over 35 for women and 50 for men;
• consanguinity between parents;
• Exposure to teratogenic factors (living in an environmentally unfavorable place, radiation, work in hazardous industries).

Teratogenic causes of fetal malformations are extremely extensive - there are at least four hundred of them. All parents without exception know about the dangers of drug addiction, alcoholism and smoking during pregnancy, but causes of congenital malformations these items are not limited.

One of the very dangerous factors of influence are viral diseases carried by a woman in the first trimester of pregnancy. This is especially true for the rubella virus. Unfortunately, in some cases, the fetus may experience irreversible changes that are not correlated with life.

Reception medicines(especially hormonal) in the first trimester can also be extremely dangerous, so doctors do not get tired of warning that any treatment at this time should be carried out only under the supervision of a doctor.

Maternal endocrine disorders, including diabetes are also at risk. Irradiation (radiation, X-ray) in some cases can cause abnormalities in the development of the fetus, and that is why such examinations in the first trimester are carried out only for health reasons and under reliable protection.

Living in an ecologically unfavorable area - near mines, metallurgical enterprises and similar places - carries a great danger for the development of the child. In addition, abnormalities in the development of the fetal cardiovascular system are also found in women living in highlands with rarefied air. Injuries and falls wrong position fetus, the presence of tumors can affect the fetal blood supply and cause congenital malformations.

Maternal nutrition can also have an impact on the occurrence of fetal malformations - for example, it has been proven that folic acid deficiency increases the risk of neural tube abnormalities in a child. Finally, the work of the child's father in hazardous production can lead to spermatozoa abnormalities, which is also one of the causes of CM.

What to do if a child has a developmental defect

We have already spoken about the shock that invariably befalls parents at this news. But you need to try to deal with it quickly - perhaps with the help of specialists. If the pathologies are incompatible with life, and the terms allow you to terminate the pregnancy, the doctors will immediately tell you about it.

The life of children with fetal malformations largely depends on the timeliness of the measures taken. Today, even the most complex defects are successfully operated on, and often operations are performed in the first days of life. A number of defects allows you to postpone the operation or even undergo conservative treatment. Parents should try to collect maximum amount information about this disease in order to know all its symptoms and treatment features. Of course, such babies will be under the constant supervision of doctors and regularly undergo examinations. There are a number of dietary restrictions and physical activity about which the pediatrician will tell.

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

In medical practice, there are a variety of types of fetal pathologies that are established in different trimesters pregnancy and pose a serious question for 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.
• Acquired.

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

Congenital pathologies and their varieties

All fetal CMs 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 a child. These pathologies are:

• Patau syndrome. With this diagnosis, there is a problem with chromosome 13. This syndrome is manifested by a variety of malformations, multi-fingeredness, deafness, idiocy and problems with reproductive system. Unfortunately, children with this diagnosis have little chance of surviving to the age of one.
• Down syndrome is a notorious diagnosis that has been causing a strong resonance in society for many years. Children with this syndrome have a specific appearance, suffer from dementia and growth retardation. Violations occur with 21 chromosomes.
• Edwards syndrome in most cases ends in death, only 10% of newborns live up to a year. Due to the pathology of the 18th chromosome, children are born with noticeable external abnormalities: small palpebral fissures, deformed ear shells, and a miniature mouth.

• Klinefelter's syndrome - is characteristic of boys and is expressed by mental retardation, infertility, and the absence 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.
• Polysomy on 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 fatal outcome to the fetus.

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

If we talk about acquired VPR

It also happens that fetal CM is 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 suffered by the mother during the period of bearing a child, a harmful environmental situation or not healthy lifestyle parents' lives. Such acquired pathologies can “hit” absolutely any system in the fetal body.

The most popular disorders include the following pathologies:

CDF for no specific reason

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

• Multiple pregnancy (the most famous cases are the birth of Siamese twins).
• Deviations of the placenta (hyper- and hypoplasia associated with its weight).
• Too much or too little intrauterine fluid.
• Pathology of the umbilical cord (various cases from variations in length to problems with knots and attachments. There is also a thrombosis or cyst - 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 doctor’s terrible conclusion, 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 CM?

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

The Importance of Prenatal Diagnosis

Many people find out what fetal CM is during pregnancy only after prenatal diagnosis. Such a measure is necessary for bearing a healthy baby. So, why is such an inspection very important and how is it carried out?

When fetal CM is diagnosed, the first step is pathology screening - a set of procedures that every expectant mother undergoes for a period of 12, 20 and 30 weeks. In other words - this ultrasound examination. Sad statistics suggests that many will find out what fetal CM is on ultrasound. An important step in the verification are extensive blood tests.

Who is at risk?

Specialists highlight special group women who have a high percentage of risk of having an unhealthy child. At the first examination, they take blood for tests and prescribe a deep diagnosis for the possible presence of pathologies. Most often, expectant mothers hear the diagnosis of fetal CM who:

• Age over 35.
• Get serious drug treatment during pregnancy.
• Got exposed to radiation.
• Have already experienced pregnancy with a child with abnormalities or if they have a relative with genetic abnormalities.
• History of miscarriages, miscarriages or stillbirths.

About forecasts

With 100% accuracy without the need medical examinations no competent doctor can make a diagnosis. Even after receiving the conclusion, 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, danger to the life of the mother), an abortion is offered. If the case is limited to only subtle external anomalies, then it will be quite possible to do without plastic surgery in future. Diagnoses are not generalizable and 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 the child can live a full life, timely health care and modern achievements of science work wonders. In no case should you lose heart and you should always hope for the best, relying entirely on the professional opinion of a doctor.

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

Malformations 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.

FAULTS OF THE CENTRAL NERVOUS SYSTEM

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

1. Hydrocephalus:

Stenosis of the cerebral aqueduct;

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. Sonographic picture of severe fetal hydrocephalus (arrows indicate sharply dilated 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 is an isolated increase in the size of the ventricles, not accompanied by an increase in the size of the head. Hydrocephalus is observed with a frequency of 0.1-2.5 per 1000 newborns. About 60% of fetuses with hydrocephalus are boys. Hydrocephalus can be the result of many diseases. various etiologies. In most cases, it develops as a result of a violation of the outflow of cerebrospinal fluid. The communicant form of hydrocephalus is caused by extraventricular

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

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

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 process of closing the neural tube (Fig. 29).

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

Rice. 29. Sonographic picture spina bifida in the lumbosacral spine (marked with an arrow)

is called meningomyelocele. Distinguish spina bifida cystica(cystic form of spinal hernia with the formation of a hernial sac containing the membranes of the brain and / or substance of the brain) and spina bifida occulta(hidden 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 areas of the UK, the frequency of this defect is 4 per 1000 newborns. In the United States, this figure is 0.5 per 1000, although it depends on racial and geographical characteristics. spina bifida- a malformation that occurs due to a violation of the closure of the neural tube on the 4th week 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(trisomy on 13 and 18 pairs of chromosomes, triploidy, unbalanced translocation or ring chromosome). Spinal hernia is associated with more

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

Prenatal examination includes determination of the karyotype and a thorough ultrasound examination. Special attention should be given to the anatomy of the head, heart, arms and legs. If a meningomyelocele is detected before the viability of the fetus, the woman should be offered medical termination of the pregnancy. When prolonging pregnancy, dynamic ultrasound is indicated every 2-3 weeks to assess the appearance of other signs (for example, ventriculomegaly). Parents should be given a consultation with a neurosurgeon to discuss the possibilities of surgical intervention after childbirth (closure of the defect or bypass), as well as the prognosis for the life and health of the child. 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%. The use of 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 a defect.

Any open neural tube defect should be closed within the first 24 hours of life. Antibacterial therapy started immediately after birth may reduce the risk of infectious complications. The prognosis for life and health depends on the level of location of meningomyelocele, as well as on the number and nature of associated anomalies. mental development children who are born normal circle head and properly formed brain, does not suffer. Patients with meningomyelocele located at L2 and above are almost always forced 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. Top part 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 mostly preserved. Typical manifestations include bulging eyes, a large tongue, and short neck. This pathology occurs with a frequency of 1 in 1000. More often 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 failure to close 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 elevated carbon dioxide levels has been established. Sonographic diagnosis can be established as early as 12-13 weeks of pregnancy. Anencephaly and acrania are absolutely lethal malformations, therefore, in both cases, the woman should be offered termination of pregnancy. All newborns with anencephaly and acrania die within 2 weeks of birth. The empirical risk of recurrence of anencephaly is 3-5%. The use of 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 a defect.

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 the protrusion only through the defect of 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 syndromes, median splitting of the face) and non-genetic (amniotic constriction) syndromes. Cephalocele develops as a result of non-closure of a neural tube defect and occurs on 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 non-separation of the surface ectoderm and the underlying neuroectoderm. If a cephalocele is detected, the woman should be offered medical termination of pregnancy. 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. It is possible to recommend decompression of the hernial sac to create conditions for delivery through the natural birth canal. A caesarean section may be recommended if there is a small defect and if the hernia sac is small.

Microcephaly (microencephaly) - clinical syndrome, which is 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. The prognosis depends on the presence of associated anomalies. Trisomy on chromosomes 13, 18, Meckel's syndrome are fatal lesions. Prenatal examination should include determination of the fetal karyotype and a thorough 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 THE FACIAL STRUCTURES AND THE NECK

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

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

my tubercles. In those observations when the fusion process is not complete, clefts are formed. As a rule, it is possible to diagnose a cleft face only in the second trimester of pregnancy with a screening ultrasound. Prenatal detection of a defect using echography is difficult, however, thanks to ultrasound scanning and color Doppler mapping, the possibilities of its diagnosis are expanding. Doppler ultrasound can visualize the movement of fluid through the nose, mouth, and pharynx. In the presence of a cleft, the nature of the movement of the fluid changes. Three-dimensional echography can clarify the diagnosis in those observations when a cleft was suspected in a two-dimensional study, but its clear visualization was not obtained. It is possible to diagnose an anomaly with the help of fetoscopy, including embryooscopy. In the absence of associated anomalies, generally accepted obstetric tactics are used, regardless of the time of diagnosis. Taking folic acid before and during the next pregnancy may reduce the risk of clefts.

Splitting of the upper lip (cleft lip) does not interfere with the act of sucking and is only cosmetic defect. With a combination of splitting 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 get into Airways. The prognosis is favorable: modern surgical methods allow to achieve the correction of cosmetic and functional defects.

cystic hygroma(lymphangioma or the consequences of obstruction of the jugular lymphatic trunk) is an encysted 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 (coccyx-parietal size of the fetus over 30 mm). Cystic hygroma is often combined with chromosomal aberrations (Turner's 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 problems and airway obstruction.

Rice. thirty. Sonographic picture of cystic hygroma of the fetal neck during a 16-week pregnancy (a large liquid formation is visualized in the neck of the fetus - indicated by an arrow)

ways. Facial nerve paresis due to surgical treatment occurs in 24% of patients.

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

CONGENITAL HEART DEFECTS

The frequency of congenital heart defects (CHD) ranges from 1-2 to 8-9 per 1000 live births. The most common CHDs are atrial and ventricular septal defects, patent ductus arteriosus, pulmonary stenosis, hypoplastic left heart syndrome, single ventricle, etc. In 90% of cases, CHDs 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% after the birth of two sick children. Monogenic inheritance

aging is observed in 1-2% of children with congenital heart disease. Chromosomal abnormalities are found in 5% of children, of which trisomies are the main ones. In 1-2% of newborns, there is a combined effect of various teratogens. Fetal echocardiography is the most informative method for prenatal diagnosis of congenital heart disease. 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 pregnant drugs 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 disorders;

symmetrical shape intrauterine delay fetal growth. The prognosis depends on the type of defect, the presence of concomitant anomalies and chromosomal abnormalities.

Obstetric tactics is that after a thorough echocardiographic study, cordo or amniocentesis is performed in order to obtain material for chromosomal analysis. If CHD is detected in a non-viable fetus, termination of pregnancy is indicated. With a full-term pregnancy, it is better to carry out delivery in specialized perinatal centers. With combined defects and genetic abnormalities, termination of pregnancy is necessary at any time.

single 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. The single ventricle is easily diagnosed using a standard four-chamber section of the fetal heart. The only one

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

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

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

to begin the determination of the karyotype and a detailed study of the ultrasound anatomy of the fetus. Identification of an 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 fetus should be carried out.

Ventricular septal defect(VMZHP). Represents a deficiency of the septum separating the ventricles. According to localization, defects of 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) are distinguished. By size, VSDs are divided into small (up to 4 mm) and large. VSD can be isolated or combined with other anomalies, chromosomal defects and hereditary syndromes. In the general structure of congenital heart defects, about 20% is isolated VSD, which is the most commonly diagnosed defect. The frequency of small, hemodynamically insignificant, muscle defects reaches 53:1000 live births. About 90% of such defects close spontaneously by the age of 10 months 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 sections and color Doppler imaging. Most often, VSD is isolated, but can be combined with chromosomal abnormalities, gene disorders, syndromes of multiple malformations. Prenatal examination for a VSD should include karyotyping and a detailed examination of the fetal ultrasound anatomy. Identification of an isolated VSD in the prenatal period does not require a change in the management of pregnancy and childbirth. In late pregnancy, a dynamic assessment of the fetus should be carried out. If VSD is suspected, parents should 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 close spontaneously before the age of 5 years, and of the remaining 80% disappear in adolescence. Most patients with uncomplicated VSD have a good prognosis for life and health. With favorable flow

disease significant restrictions on physical activity is not required.

Ebstein anomaly- congenital heart disease, characterized by abnormal development and location of the tricuspid valve leaflets. 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 a displacement of the abnormal valve deep into the right ventricle and division of the ventricle into two sections: distal (subvalvular) - active and proximal (supravalvular or atrialized) - passive. The supravalvular department, connecting with the right atrium, forms a single functional formation. Ebstein's anomaly accounts for 0.5% of all congenital heart defects. Ebstein anomaly can be easily diagnosed by examining a standard four-chamber fetal heart, as 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 the visualization of a displaced tricuspid valve against the background of a dilated right atrium and normal right ventricular myocardium. An important prognostic value in Ebstein's anomaly is the detection of tricuspid regurgitation during Doppler echocardiography of the fetus. The earliest prenatal ultrasound diagnosis of Ebstein's anomaly was carried out 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 combined with chromosomal aberrations and syndromes of multiple congenital malformations. Extracardiac anomalies are observed in 25%. The outcome in the neonatal period depends on the severity of the change 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 involves closing the septal

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

Tetralogy of Fallot- a complex defect, including several anomalies of the structure of the heart: ventricular septal defect, aortic dextroposition, obstruction of the outlet pulmonary artery and right ventricular hypertrophy. In the general structure of congenital heart defects in live births, tetralogy of Fallot is 4-11%. It is very difficult to diagnose Fallot's tetrad when studying a four-chamber fetal heart. When sliced ​​through the outlets of the main arteries, a typical subaortic VSD and aortic dextraposition can be seen. An important additional criterion is the expansion and displacement of the aortic root. Tetralogy of Fallot is a blue-type defect, i.e. in newborns, pronounced cyanosis is determined at the age of 6 weeks to 6 months. Tetralogy of Fallot refers to difficult-to-diagnose heart defects that often remain undetected by screening ultrasound in terms of up to 22 weeks of gestation. Most often, this defect is diagnosed in III trimester pregnancy or after birth. Tetralogy of Fallot does not require specific management tactics. If this pathology is detected, a comprehensive examination and prenatal counseling are necessary. Almost 30% of live births with Fallot's tetrad have combined extracardiac anomalies. Currently, more than 30 syndromes of multiple malformations have been described, the structure of which includes Fallot's tetralogy. Prenatal examination for the detection of Fallot's tetrad should include determination of the karyotype and a detailed study of the ultrasound anatomy of the fetus. The prognosis for life in tetralogy of Fallot largely depends on the degree of right ventricular outflow tract obstruction. More than 90% of patients who underwent 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 disease in which the aorta, or most of it, comes out of the right ventricle, and the pulmonary artery out of the left ventricle. It accounts for 5-7% of all congenital heart defects. Usually not diagnosed in the prenatal period during screening because the study of the fetal heart is limited to the study

only a four-chamber cut. To identify the defect, visualization of the main vessels is necessary with the study of their location relative to each other. Normally, the main arteries cross, 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 not compatible 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 a detailed study of the ultrasound anatomy of the fetus. Most newborns with transposition of the main arteries and an intact interventricular septum have pronounced cyanosis from the first days of life. Surgical correction should be carried out 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%.

CHEST DISEASES

congenital diaphragmatic hernia- a defect resulting from a slowdown in the process of closing the pleuroperitoneal canal. With this defect, there is usually insufficient 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 displacement of the stomach, spleen, intestines and even the liver into the chest cavity, which may be accompanied by mediastinal displacement 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 approximately 1 in 2400 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 defect. Moving 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 left-sided diaphragmatic hernia.

With right-sided hernias, the heart is usually displaced to the left. In the chest, the intestines and liver can also be visualized. With this defect, polyhydramnios is often noted. Combined anomalies are observed in 23% of fetuses. Among them, congenital heart defects prevail, which account 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, however, 12% of cases are combined with other malformations or are part of chromosomal and non-chromosomal syndromes. Prenatal examination should necessarily include the determination of the fetal karyotype and a detailed ultrasound examination. If combined anomalies are detected, differential diagnosis can only be carried out during a consultation with the involvement of geneticists, syndromologists, and 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 hernia 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, dilatation of the stomach, 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 isolated congenital diaphragmatic hernia, only 40% survive. Neonatal death usually results from pulmonary hypertension and/or respiratory failure.

ANOMALIES OF FORMATION OF THE WALLS OF THE ABDOMINAL CAVITY AND DEVELOPMENTAL DEVELOPMENT OF THE GASTROINTESTINAL TRACT

Omphalocele (umbilical hernia)(Fig. 32). Occurs as a result of non-return of the abdominal organs from the amniotic cavity through the umbilical ring. Omphalocele can include any

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

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 frequency of omphalocele is 1 in 3000-6000 newborns. There are isolated and combined forms of omphalocele. This pathology in 35-58% is accompanied by trisomy, 47% - congenital heart defects, 40% - malformations of the genitourinary system, 39% - neural tube defects. Intrauterine growth retardation is detected in 20% of cases.

Prenatal ultrasound diagnosis 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 composition of the hernial contents includes intestinal loops and the liver. The umbilical cord is attached directly to the hernial sac. In some cases, a prenatal diagnosis can be established at the end of the first trimester of pregnancy, although in most cases an 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 single-stage operation, with a large one, multi-stage operations are performed to close the hole in the anterior abdominal wall with a silicone or Teflon membrane. Obstetric tactics is determined by the period of detection of the defect, the presence of combined anomalies and chromosomal disorders. When a defect is found in early dates pregnancy should be terminated. In case of detection of 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 omphalocele, the hernial sac can rupture and infection of the internal organs of the fetus can occur.

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

Since the end of the 70s. 20th century in Europe and the United States, the trend towards an increase in the frequency of births of children with gastroschisis continues. Allocate 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 is most often a combination of gastroschisis with atresia or intestinal stenosis. Among other anomalies, congenital malformations of the heart and urinary system, syndrome prune-belly, hydrocephalus, low and polyhydramnios.

The anomaly occurs sporadically, but there are observations of a family disease with an autosomal dominant type of inheritance.

The earliest prenatal ultrasound diagnosis using transvaginal echography was carried out 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) a 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 intestinal loops in the amniotic fluid near the anterior abdominal wall of the fetus. Sometimes, in addition to intestinal loops, beyond

other organs may be located in the abdominal cavity. The accuracy of ultrasound diagnosis 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 located outside the anterior abdominal wall.

The overall prognosis for newborns with isolated gastroschisis is good, with over 90% of infants surviving. When prolonging pregnancy, the tactics of management in the second trimester have no special features. 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 conduct a dynamic assessment of the functional state of the fetus, since the frequency of distress in gastroschisis is quite high and intrauterine growth retardation is formed in 23-50% of cases.

If gastroschisis is detected before the viability of the fetus, abortion should be performed. In full-term pregnancies, childbirth is carried out in an institution where surgical care can be provided.

duodenal atresia is 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 autosomal recessive inheritance are described. In 30-52% of patients, the anomaly is isolated, and in 37%, malformations of the skeletal system are found: an abnormal number of ribs, agenesis of the sacrum, horse foot, bilateral cervical ribs, bilateral absence of the first fingers, etc. In 2%, combined anomalies of the gastrointestinal tract are diagnosed: incomplete rotation of the stomach, atresia of the esophagus, ileum and anus, transposition of the liver. In 8-20% of patients, congenital heart defects are detected, in approximately 1/3 of cases, duodenal atresia is combined with trisomy for 21 pairs of chromosomes. The main prenatal echographic findings in duodenal atresia are polyhydramnios and classic sign "double bubble" in the fetal abdomen. The image of the "double bubble" 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 vast majority of cases, duodenal atresia is diagnosed in the II and III trimesters of pregnancy. In earlier terms, the diagnosis of this defect presents significant difficulties. The earliest diagnosis of duodenal atresia was made at 14 weeks.

For determining obstetric tactics carry out a detailed ultrasound evaluation anatomy of the internal organs of the fetus and its karyotyping. Before the onset of the period of fetal viability, termination of pregnancy is indicated. If an isolated anomaly is detected in the third trimester, pregnancy prolongation is possible, followed by 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 precisely established. On 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 may be isolated or be one of the signs of dropsy of non-immune origin. In addition to ascites, dropsy of the fetus 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 anomalies, so a thorough examination of all internal organs of the fetus is indicated. 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. With isolated ascites, chromosomal defects are less common, 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 necessary to exclude combined anomalies and intrauterine infections. The course of fetal ascites depends on its etiology. Idiopathic isolated ascites has a favorable prognosis. In more than 50% of observations, its spontaneous disappearance is noted. The most common cause of isolated ascites is intrauterine infection.

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

KIDNEY AND URINARY TRACT malformations

Renal agenesis- complete absence of both kidneys. The occurrence of a defect is due to a violation 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 renal agenesis in the fetus is represented by the absence of their echo and Bladder, as well as severe oligohydramnios. Oligohydramnios refers to late manifestations and can be detected after the 16-18th week of pregnancy. Usually, bilateral renal agenesis is accompanied by a symmetrical form of fetal growth retardation syndrome. Renal agenesis is most often sporadic, but can be combined with various anomalies of the internal organs. The direct consequences of oligohydramnios are pulmonary 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 diagnosed, karyotyping should be done prenatally or after birth to rule out chromosomal abnormalities. In all observations of renal agenesis, a complete pathoanatomical examination is necessary. Ultrasonography is shown

kidney examinations in next of kin. With 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 a bilateral symmetrical increase in the kidneys as a result of the replacement of the parenchyma with a secondarily enlarged collecting duct without proliferation of connective tissue. It ranges from the classic lethal variant to infantile, juvenile, and even adult forms. In the infantile form, there is secondary dilatation and hyperplasia of normally formed collecting ducts of the kidneys. The kidneys are affected symmetrically, while cystic formations are 1-2 mm in size. The frequency is 1.3-5.9:1000 newborns. The main echographic criteria for malformation are enlarged hyperechoic kidneys, absence of bladder echo, 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 fetal abdomen. A typical echographic picture may not appear until the third trimester of pregnancy. The prognosis is unfavorable. Death comes from kidney failure. Obstetric tactics is to terminate the pregnancy at any time.

Adult polycystic kidney disease(autosomal dominant disease, adult type hepatorenal polycystic disease, type III Potter syndrome) is characterized by the replacement of the kidney parenchyma with numerous cysts different sizes, which are formed due to the expansion of the collecting ducts and other tubular segments of the nephron. The kidneys are affected on both sides and enlarged, but a unilateral 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 causes 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 1,000 people. Gene penetration occurs in 100% of cases, however, the course of the disease can vary from severe forms with a fatal outcome in the neonatal period to asymptomatic, detected only at autopsy.

Polycystic kidney disease(multicystic disease, cystic kidney disease, Potter syndrome type II, dysplastic kidney disease) is characterized by cystic degeneration of the renal parenchyma due to the primary expansion of the renal tubules. In multicystic renal dysplasia, the ureter and pelvis are most often atrezated or absent. The process can be bilateral, unilateral and segmental. In multicystic dysplasia, the kidney is usually significantly enlarged; regular form and normal tissue are absent. The kidney is represented by multiple cysts with anechoic contents (Fig. 33).

Rice. 33. Echogram of bilateral polycystic fetal kidneys (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 term, the diameter of the cysts can reach 3.5-4 cm. The bladder is usually visualized with a unilateral process and is not visualized with a bilateral process. With a bilateral process, oligohydramnios is usually noted. The disease occurs mainly sporadically and may be secondary in combination with other syndromes. obstetric

tactics in a bilateral process diagnosed in the early stages, due to an unfavorable prognosis, is to terminate the pregnancy. With a unilateral process and a normal karyotype without associated anomalies, a conventional delivery is indicated, followed by a consultation of the child with a specialist.

Dilatation of the urinary tract. Anomalies of the genitourinary system in the fetus, accompanied by the expansion of the urinary tract, can be caused various reasons, including vesicoureteral reflux, idiopathic pyelectasis, obstructive disorders, etc. From a clinical point of view, in the prenatal period, it is advisable to distinguish pyelectasis and obstructive uropathy.

Pyelectasis. Pyelectasis is characterized by excessive accumulation of fluid and expansion 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 doubling of the ureters, bilateral obstructive megaureter, non-functioning contralateral kidney and its agenesis are detected, in 19% - anomalies in the development of various organs. For prenatal ultrasound diagnosis of pyelectasis, the fetal kidneys should be examined in both transverse and longitudinal scanning. The dilatation of the renal pelvis is judged on the basis of its anterior-posterior size when transversely scanning the kidney. Most researchers consider pyelectasis expansion of the renal pelvis 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 speak of hydronephrosis. The most common classification of hydronephrosis in the fetus is:

Grade I (physiological dilatation):

Renal pelvis: anterior-posterior dimension<1 см;

Cortical layer: not changed.

Grade II:

Renal pelvis: 1.0-1.5 cm;

Cups: not visualized;

Cortical layer: not changed.

Grade III:

Renal pelvis: anteroposterior dimension >1.5 cm;

Calyces: slightly dilated;

Cortical layer: 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;

Calyces: greatly expanded;

Cortical layer: 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 pyeloectasia averages 8%. In most fetuses with chromosomal abnormalities, a combination of pyelectasis and other developmental anomalies is detected. Moderately pronounced pyelectasis has a good prognosis and the need for surgical treatment after childbirth occurs quite rarely. In most observations, spontaneous resolution of moderately severe pyelectasis after the birth of a child is noted.

Obstetric tactics depends on the time of occurrence and duration of the course of the pathological process, as well as the degree of impaired renal function. Early delivery is justified with oligohydramnios. In the postnatal period, dynamic monitoring and consultation with a pediatric urologist are 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 ureteropelvic fistula (PUR), obstruction at the middle level (ureter), obstruction at the level of the vesicoureteral junction (VUT), low obstruction (urethra). URMS 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 sonographic features of OLMS include dilatation of the renal pelvis with or without expansion of the calyces; ureters are not visualized; the bladder may be of normal size or may not be visualized in some cases. Tactics in OLMS should be expectant. Installation of a vesico-amniotic shunt is not indicated. To ultrasonic cry-

OPMS in the fetus include dilatation of the ureter and pyelectasis. The bladder is usually of normal size. Tactics of conducting is similar to that at OLMS. The most common cause of low obstruction is the posterior urethral valves. With severe obstruction, oligohydramnios is observed, leading to lung hypoplasia, deformities 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 site of obstruction, a pronounced expansion of the bladder. Prenatal management for low obstruction depends on the duration of pregnancy, the presence of oligohydramnios and associated anomalies, and the functional state of the kidneys. With moderately severe and non-progressive pyelectasis, conservative tactics should be followed. With the progression of obstructive disorders, delivery with possible surgical correction of the defect is justified to prevent severe kidney disorders in the fetus. In preterm pregnancy in fetuses with severe obstructive uropathy, intrauterine surgical correction of the defect can be performed.

BONE DEFECTS

Among congenital malformations of the skeletal system, amelia (aplasia of all limbs) is most common; phocomelia (underdevelopment of the proximal limbs, 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 (reduction in the number of fingers due to fusion of soft tissues or bone tissue of adjacent fingers); abnormal stop setting; osteochondrodysplasia, characterized by anomalies 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 defects incompatible with life. Many forms of skeletal dysplasia are combined with lung hypoplasia 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 an osteochondroplasia with defects in the long bones and/or axial skeleton. The frequency is 0.24-5:10,000 births. The ratio of male and female fetuses is 1:1. Shortening of the bones in achondroplasia may not appear in the fetus until 24 weeks of gestation. Classical echographic findings include short limbs (less than the 5th percentile), small chest, macrocephaly, and saddle nose. Life expectancy with achondroplasia depends primarily on the time when the small size of the chest does not cause serious respiratory problems. Intellectual development with a defect is normal, but there is high risk neurological disorders, in particular compression of the spinal cord at the level of the foramen magnum, which may limit physical activity. Macrocephaly may be the result of mild hydrocephalus due to the small size of the foramen magnum. Achondroplasia is a well-studied and common type of congenital dwarfism in newborns. Serious problems they may have central and obstructive sleep apnea. At the age of 6-7 years of life, chronic recurrent infections of the middle ear are often noted. In early childhood, a 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.

All parents want their kids to be healthy. But at the stage of pregnancy, few people think that a child may be born with some kind of disorder. However, the probability similar situation necessarily taken into account by doctors. After all, many problems in the development of the baby can be successfully corrected even before he is born, and some violations are so serious that it is better to know about them in advance and make appropriate decisions. The topic of our conversation today will be intrauterine malformations of the fetus. Let's talk about what congenital malformations of the fetus are, what causes of their appearance we will name, we will tell you how they are determined (screening, analysis) and prevention.

Causes of fetal malformations

Doctors say that there are many factors that can cause developmental anomalies in children at the stage of intrauterine development. Most often, such violations are explained by various genetic defects - either hereditary or acquired due to various failures in the process of embryogenesis.

Problems at the genetic level can be caused by the influence of insufficiently favorable factors external environment, for example, ionizing radiation, exposure to aggressive chemicals and even some drugs.

Also, malformations can occur due to maternal illness, due to the fact that there is a serious lack of vitamins and minerals in the body. The influence of bad habits on the fetus is also dangerous.

Sometimes genetic defects are passed on to children from one of the parents or occur after the genetic information of a man and a woman is combined.
It is worth noting that in most cases, the genetic mutation of the fetus causes the cessation of its development even in the early stages of pregnancy.

Congenital malformations of the fetus

All anomalies, as well as fetal malformations, can be divided into two main groups. These are hereditary and congenital pathologies.

Hereditary defects are Shereshevsky Turner syndrome, Down syndrome, color blindness, hemophilia, ptosis, etc.

And congenital - heart defects, hernias, dislocations of the joints, deformities of the maxillofacial region, congenital malformations of the nervous system, etc.

It should be noted that most often developmental anomalies are explained by a combination of the presence of a hereditary predisposition and the influence of aggressive factors.

Definition of fetal malformations

For early detection possible violations in the development of the fetus, the expectant mother has to undergo a lot of research. Actually, prenatal diagnosis fetal malformations is a rather complicated process. And one of the most important stages of such a diagnosis is the screening of fetal malformations. This is a whole complex of examinations, which is carried out at the twelfth, twentieth and thirtieth week of pregnancy. An analysis for fetal malformations helps to detect biochemical serum markers of chromosomal pathologies in the blood.

In the first trimester of pregnancy, at 12 weeks of pregnancy, the expectant mother must undergo the so-called double test. A blood test allows you to find out the amount of free β-hCG subunit in the blood, as well as PAPP-A (plasma protein A associated with pregnancy). The analysis is complemented by data from ultrasound.

In the 2nd trimester of pregnancy, an analysis is carried out for the level total hCG or free β-hCG subunit, on AFP (alpha-fetoprotein), as well as on the amount of free (non-conjugated) estriol. The analysis is necessarily supplemented by the results of ultrasound.
When the 30th week of pregnancy approaches, an ultrasound of the uterus and fetus is performed.

The most informative diagnostics congenital malformations of the fetus - a method of research using ultrasound. Ultrasonography allows you to identify a variety of anomalies - and suspect genetic disorders, and reveal the incorrect formation of organs, etc.

The study of hCG allows you to determine the uterine pregnancy, its abnormal change can be observed in some chromosomal pathologies.
Too high alpha-fetoprotein can be detected with the development of open malformations of the central nervous system, and a decrease in this substance indicates the likelihood of developing Down syndrome.

The amount of estriol should gradually increase as the fetus develops.

It should be noted that blood tests for fetal malformations are far from always informative. Fluctuations in indicators can be explained by the emotional state of the expectant mother, her health problems, non-compliance with the diet, and even an error during blood sampling and direct research.

In the event that the results of ultrasound and blood tests are alarming and show a high probability of fetal malformations, the doctor may advise the expectant mother to undergo invasive methods diagnostics:

Chorionic biopsy - sampling and examination of a part of the cells of the fetal egg, allows you to identify the presence of genetic pathologies;

Amniocentesis - taking a certain amount of amniotic fluid, in the first trimester such a study helps to identify hyperplasia of the adrenal cortex, and in the second - chromosomal pathology and ailments of the nervous system;

Placentocentesis - a study of the share of the placenta, carried out from the twelfth to the twenty-second week of pregnancy and allows you to identify the presence of genetic pathologies;

Cordocentesis - taking a certain amount of blood from the umbilical cord of a developing fetus, such a study allows you to determine the presence of blood diseases and infection of the fetus;

Fetal skin biopsy - performed to identify certain skin ailments.

Prevention of fetal malformations

Competent prevention of possible fetal malformations plays an extremely important role. Conscious preparation for pregnancy of a man and a woman is the main measure to prevent such problems. The right approach to the birth of the baby allows you to quickly achieve the desired conception, ensure a trouble-free course of pregnancy and childbirth, and also affects the health of the baby throughout his life.

Both parents need to be examined in advance for the presence of latent infections, to determine the presence of possible chronic ailments. Visiting a competent geneticist plays an extremely important role. Such a doctor helps to find out whether any diseases will appear in a child, reveal a tendency to genetic diseases, analyzing the health characteristics of representatives of previous generations.

The most important factor for the successful development and birth of a healthy baby is the correct healthy lifestyle, both during the entire period of gestation, and long before the onset of conception. Future mother it is necessary to give up bad habits, eat right and balanced, exclude the influence of aggressive factors: physical, chemical and biological. To prevent complications during the bearing of a baby, it is necessary to treat existing diseases in a timely manner. Directly during pregnancy, it is extremely important to follow all the recommendations of a qualified gynecologist, undergo necessary examinations which allow timely detection of possible deviations in natural development fetus.

Fetal malformations are serious problem, which often requires making unpleasant decisions, such as artificial termination of pregnancy. But some problems of this kind are quite amenable to correction during gestation or shortly after the birth of a child.

Folk recipes

Expectant mothers should not use most drugs and herbal preparations because they can break normal flow pregnancy and even cause fetal malformations. But some herbs for pregnant women can be of great benefit.

So herbal remedies can come in handy if you need to calm down and make it easier to fall asleep. An excellent choice would be ordinary mint. To prepare the medicine, grind the peppermint leaves. Brew a teaspoon of such raw materials with a glass of boiling water and leave it under the lid for ten to fifteen minutes.

Strain the finished drink and add honey and lemon to it if desired. Drink this tea one or two glasses a day, no more.

For successful pregnancy, it is extremely important to consult a doctor at the stage of conception planning, follow the advice of a specialist and undergo all the necessary examinations during all three trimesters.