How to find out about fetal malformations in time? Chromosomal pathology of the fetus. Causes of congenital malformations of the fetus

Quite a serious test for the expectant mother are tests to identify pathology. Usually they are carried out from 10 to 16 weeks, that is, in the first trimester. In some cases, doctors are forced to ascertain congenital or genetic abnormalities, due to which termination of pregnancy is recommended. What is the most dangerous pathology of pregnancy early dates, how can it affect any child and are there any chances to avoid it?

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Reasons for early screening

Unfortunately, many couples have to do tests at the stage of intrauterine development of the fetus. The thing is that under the influence of certain factors, irreversible genetic abnormalities begin to develop in a child. The reasons for the development of defects can be:

bad ecology;
exposure to toxic, chemicals, radiation, drugs;
the transmission of deviations from the parent to the fetus (hereditary family diseases) or the acquisition after the connection of the qualitative genetic information of the couple;
consanguineous marriages;
women who have a sad experience of previous pregnancies, including repeated miscarriages, stillbirths, infertility of unknown etiology;
women under 18 and "old-timers" over the age of 35;
infectious diseases mothers, disorders in the endocrine and immunological systems.

In the presence of these factors, the chances of developing gene mutations in the fetus are much greater. Identification of pathologies in early pregnancy allows detection of non-viable embryos. Basically, this leads to a missed pregnancy or the birth of children with abnormalities.

Types of genetic abnormalities in children

Genetic defects are divided into acquired and congenital ( trisomy ). The latter are more common, the most famous of them is Down syndrome. They can also simply be passed down from generation to generation. For example, if a grandmother a long period time was under the influence of toxic substances, it is not a fact that this will affect her child. The result of the action of toxins may already appear in her grandchildren. Pathology of pregnancy can both completely change the structure of the future person, his physiological abilities, and only slightly damage certain organs.

Down syndrome

It manifests itself in the presence of a third chromosome, despite the fact that there are usually two of them. In addition to external differences, the most main danger children with such deviations are considered heart defects, occurring in 40% of cases. Also, scientists have long deduced a pattern between the age of the mother and the birth of a child with Down syndrome: after 45 years, every couple out of 14 who conceive appears Sunny child, that is, a baby with a trisomy of the 21st chromosome. As for the age of the father, it affects the fetus to a lesser extent.

How does Down's syndrome manifest itself externally?

Edward Syndrome and Patau Syndrome

If a geneticist establishes such types of abnormalities in the fetus, there will be nothing to encourage parents: in 90% of cases, babies die in the first year of life, while heart defects occur in 80% of them.

Treacher Collins Syndrome

Occurs on early stages development of the fetus as a result of gene mutation. A rather rare deviation, which manifests itself in gross deformities of the facial part of the skull, the absence or curvature of auricles, hearing impairment, problems with eating and swallowing in general, respiratory tract. However, the child develops on a par with peers.

Angelman syndrome

Deviation is extremely rare, however, it cannot be ruled out either. Manifested in developmental delays, epileptic seizures. Most famous kid with such a genetic disorder was born to actor Colin Farrell.

Since the birth of Solar children has become quite common, we recommend that you read the article. From it you will learn how the pathology manifests itself, what tests will help identify the deviation, and you will also learn advice for parents who are faced with such a diagnosis and do not know what to do.

The results of the influence of an unfavorable environment on the fetus

Fetal pathology in early pregnancy may also arise under the influence of the external environment. That is, a perfectly healthy embryo acquires pathological abnormalities under the influence of certain factors. Mostly at risk are women living near industrial areas with factories, chemical industries, working with chemicals and heavy metals, in the laboratory.

Under the influence of all these factors, the fetus may begin to slow down development, deformities, and disturbances in the functioning of vital organs. But, what is most terrible, with prolonged exposure to harmful substances, the fetus can die even in the womb. That is why a woman should be extremely careful in these already difficult nine months of waiting. Particular attention should be paid to the first trimester, since during this period the embryo is most vulnerable.

Fetal pathologies that develop due to an unhealthy lifestyle

Smoking, drugs, alcohol are far from the best companions of a future mother. Even at the stage of pregnancy planning, they must be abandoned so that the body has time to cleanse itself and gain strength to carry a healthy child.

The effect of nicotine on the fetus

Under the influence of nicotine, the fetus begins to develop hypoxia ( oxygen starvation), resulting in damage to important vital organs, meninges and lungs. As statistics show, a child is born and grows weaker than his peers, gets sick more often and lags behind in physical development. In addition, nicotine significantly increases the risk of stillbirth, miscarriage, bleeding, etc.

The effect of alcohol on the fetus

But it poses the greatest danger to the fetus. For such parents, the likelihood of having a child with disabilities and genetic pathologies substantially higher. The main thing that alcohol affects is the brain. In this regard, the baby may be further diagnosed with mental retardation, and in some cases also severe mental disorders.

Statistics are stubborn things. According to the latest data, 29% of mothers who regularly drink alcohol had spontaneous abortions, 22% had miscarriages and premature birth, in 34% of cases, children were born prematurely, and 26% of pregnant women suffered from toxicosis. In general, pathology during childbearing was established in 46.5% of cases, and problems during childbirth in 56% of cases.

It is worth noting that children from an alcoholic mother are often born with alcohol syndrome. That is, in fact, the child is already dependent on alcohol, and his body is affected by toxins.

The effect of drugs on the fetus

Children of drug addicts are among the largest risk group. The birth of a child with genetic abnormalities in a mother who used barbiturates and other drugs that poison the body is very high. But it is worth noting that if the parents regularly "sat on the needle", that is, they mainly took heroin and cocaine, then with a high probability they will not see their child alive at all, since with a high degree of probability he will die in the womb. If the fetus falls into that small percentage of survivors, in this case, he may develop mental disorders, serious illnesses, due to which he will remain disabled for life. With a high degree of probability, the children of drug addicts will never catch up with their peers in development.

Moms! Think! Can an imaginary pleasure forever deprive you of the joy of motherhood, and your baby - a happy and healthy future?

Pathologies developing under the influence of intoxication

Quite often, a child becomes a “spontaneous gift”, in front of which parents do not pass necessary examinations for infections. However, the fetus is affectedgenital and extragenital (viral and bacterial, not related to the genitals) infections. Each of them carries serious threat for the embryo.

But, as paradoxical as it may sound, signs of pathology of pregnancy can also be delivered to absolutely healthy mothers who have had the flu. Depending on the severity of the course of the disease in the early stages (up to 12 weeks), the embryo either survives and develops normally, or dies in the womb. In the second and third trimester, the consequences of the transferred influenza can be all sorts of pathologies with the placenta, which will ultimately lead to hypoxia andfetal hypotrophy.

The following diseases are also considered dangerous:

listeriosis;
syphilis;
tuberculosis;
gonorrhea;
cytomegaly and;
hepatitis (A, B, C, D);
HIV infection.

Each of the diseases carries a serious threat. For example, with such a minor problem for the mother as rubella, in the first 90 days after conception, doctors will suggest an artificial termination of pregnancy. When saving a child, there is a high risk of developing deafness, glaucoma, and bone tissue damage.

One of the most dangerous diseases- toxoplasmosis. It develops in pregnant women who have regular contact with cats. The result will be dropsy of the brain, meningoencephalitis, microcephaly, damage to the eyes and central nervous system. That is why it is better to give your pet for a while to another family. It is worth noting that it is also undesirable for small children to have regular contact with a cat.

If parents have hepatitis, then the chances are almost 50 * 50: in 40% of cases, the child can be cured, and in 40%, babies die before the age of two. Even seemingly harmless herpes, which is more than about 30% of people on the planet, when the fetus is infected, it can lead to the development of cirrhosis, shortened arms and legs, blindness and other adverse deviations.

That is why it is worth taking when planning a pregnancy , to minimize the risk congenital anomalies and the loss of a child.

Diagnosis of the development of fetal pathology

The definition of congenital and acquired pathologies of the fetus is a complex process. P first blood screening a pregnant woman will be prescribed at 12 weeks, then they will be re-examined at 20 and 30 weeks. Mom will be tested for malformations. In this case, the examination will be carried out for absolutely everyone, regardless of whether the woman is at risk or not. The most popular screening test is alpha-fetoprotein.. It is recommended to carry it out until the 12th week of pregnancy, the optimal period is 10-11 weeks. The reliability of the results reaches 95%. The required addition is Ultrasound for the pathology of the fetus and uterus.

Chorionic biopsy

This blood test for pathology with high accuracy allows you to determine any genetic abnormalities. And it is he who scares the future mother most of all. After all, I will have to takea tiny amount of tissue (chorionic villi) from the placenta of the fetus, and for this it is necessary either to pierce the abdominal cavity with a thin needle, or to get the material through the cervix.

It is worth noting that for a pregnant woman the procedure is unpleasant, but almost painless. The probability of harming the fetus or provoking a miscarriage is extremely minimal, no more than 1%! After the procedure, slight pain and light bleeding are possible. The alarm should be sounded only if heavy bleeding has begun, contractions are felt, or serious ailments are felt.

Amniocentesis

An analogue of a charyon biopsy, only in this case a fence is taken amniotic fluid. It is believed that it is safer, although in fact the risks are approximately the same: with the probability of adverse reactions after the procedure is 0.5% -1%. But among the shortcomings, it can be noted that it is carried out only from the 15th week after conception.

The results of both the first and second analyzes will be available in two to three weeks. To refuse them is to potentially be ready to give birth to a child with genetic abnormalities.

fetal ultrasound

If previous analysis for fetal pathology allows you to identify gene abnormalities, then ultrasound allows you to exclude congenital pathologies. However, it can be carried out only on the condition that the specialist is experienced specifically in matters prenatal diagnosis VLOOKUP, as well as from 20 weeks after conception. It is not recommended to save money by contacting cheaper diagnostic centers. It is likely that they use outdated equipment, with which it is impossible to detect pathology.

Unfortunately, medical indications for abortion (congenital and acquired in the developmental pathology) can usually be challenged. If the mother decides to give birth, even despite the warnings of doctors about possible anomalies and threats to the life of the child, then her pregnancy will be under vigilant control throughout the entire period. Upon re-conception, a woman will automatically be put at risk and in mandatory order forced to pass all the tests and the definition of pathologies.

And congenital non-hereditary.

Congenital hereditary developmental anomalies

As a result of many years of research in Russia and abroad, it has been established that about 20% of all congenital developmental anomalies (malformations) are hereditary and appear during the embryonic development of the fetus from parents with abnormalities in chromosomes and genes. About 10% of anomalies are caused by bad habits and the use of certain substances (alcohol, drugs and certain drugs), poor ecology, and for the remaining 70% of deformities, the causes have not been established.

Every woman wants to give birth to a healthy and beautiful child. In order to avoid congenital malformations, it is necessary to know the causes of their occurrence.

Currently, hundreds of chemical reagents have been identified that can cause damage to chromosomes or genes in parents and provoke intrauterine malformations of the fetus.

Anomalies of development can be different: the complete absence of any organ (for example, the kidney), underdevelopment of the organ (its small size and mass), too much development of the organ (for example, too large size and mass of the brain - macrocephaly). In all cases, these deviations adversely affect the physical and mental development of the child, and often lead to his death.

In addition, the structure (narrowing of the intestines, esophagus, underdevelopment of heart valves, etc.), the shape and number of organs (for example, a decrease or increase in the number of fingers and toes, the appearance of extra internal organs, such as an extra kidney and etc.) or an insufficient number of paired organs (for example, one eye or one kidney).

The result of these deviations is early infant mortality (up to 20% of all infant deaths). It is noted that in recent years the percentage of intrauterine fetal anomalies has been steadily increasing.

Not all childhood developmental anomalies appear at an early age. Some of them appear only at the time of puberty or later.

In addition, anomalies can manifest themselves in a metabolic disorder of the child - in the absence of any enzyme, etc.

All violations of intrauterine development of a child are conditionally divided into 5 groups: anatomical, physiological, functional, biochemical and mental.

Of all the violations of intrauterine development of the fetus, the most dangerous are diseases associated with a violation of the structure of chromosomes or their number in cells. Most of these anomalies lead to fetal death or the birth of a non-viable child.

Down syndrome

This is the most common hereditary disease (about 1 in 800 newborns). It is a consequence of a violation of the number of chromosomes in cells (instead of 46 chromosomes, a child has 47 chromosomes in the genotype). This disease affects both girls and boys.

Most often, a child with Down syndrome is born from an elderly mother or father (over 40 years old). This syndrome is detected in the early stages of pregnancy using ultrasound and other methods, but the accuracy of the examination is 95% (the remaining 5% is an erroneous diagnosis). To date, the most accurate diagnosis of this disease (up to 99.8%) is given by a study amniotic fluid. If this pathology is detected in the fetus, the parents themselves have the right to decide whether to leave this child to them or not.

characteristic external signs Down syndrome: crease at the inner corner of the eye, flat face and back of the head, small nose, big tongue, open mouth, short neck and a skin fold on the neck, shortened limbs and fingers, muscle weakness, there may be strabismus. Such children also have heart and duodenal defects, mental retardation.

Expectant mothers need to know that before having an abortion when a child has Down syndrome, you need to think carefully. Such children are very affectionate, kind, and the degree of their dementia varies greatly. At present, such children, although more slowly than healthy children, can be taught according to special techniques. They begin to walk, talk, read and write. People with this disease marry and live to old age, but such people need to keep in mind that the likelihood of developing this syndrome in their children increases to 50%.

Edwards syndrome

This is the second most common hereditary disease after Down's disease associated with the presence of an extra chromosome in the cells. With this disease, the fetus develops multiple defects. Most often, this syndrome occurs in children born to elderly mothers, mainly in girls. Such a child has a violation of the size of the bones of the skull, sternum, foot, body proportions. In addition, there may be no external auditory canal, there are heart defects and blood vessels, anomalies in the development of the brain, cerebellum and mental retardation. These children, as a rule, are not viable and die before the age of 3 months, rarely - before 1 year. Very rarely, such children live longer, but they are all oligophrenics (mentally retarded).

Klinefelter syndrome

This is a fairly common hereditary disease caused by a change in the number of chromosomes. This syndrome develops only in boys born to elderly mothers. This disease manifests itself only during the period of puberty of the child; he has an underdevelopment of the testicles, there are no or a reduced number of spermatozoa in the semen, infertility develops. The external development of the boy according to female type: narrow shoulders, wide pelvis, long legs, enlarged mammary glands. Mental and intellectual deviations can be noted. If the first signs of this disease are found, you should immediately consult a doctor to start treatment (most often hormonal).

Hemophilia

This hereditary disease is transmitted to the child from the mother. This disease appears only in boys. With hemophilia, blood clotting is impaired. With appropriate treatment, this disease is not a sentence.

cystic fibrosis

This is the most common hereditary systemic disease.

Cystic fibrosis affects the respiratory and digestive systems, as well as the liver, pancreas, and sex glands. Mucus accumulates in large quantities in the body, a painful cough occurs, wheezing in the lungs, the heart is affected, the pancreatic ducts are clogged, diarrhea is replaced by constipation, the stomach is swollen, children grow poorly and gain weight, limbs are thin, with a characteristic shape of fingers, the chest is deformed, skin tastes salty (when licked). The mental development of such patients is normal, and sometimes even above average. This severe congenital disease is currently not cured completely, but with proper supportive therapy, such patients can live a long and full life. They must receive certain medications for life.

Phenylketonuria

This disease is a consequence of a violation in the child of the exchange of the amino acid phenylalanine, as a result of which there is a delay in his physical and mental development. This disease is detected in the first days of a child's life. It is not a judgment. With the appointment of a special diet, the development of this disease can be prevented.

color blindness

This hereditary disease is transmitted from mother to son and manifests itself in the fact that the child does not distinguish between some colors (that is, color vision is partially impaired), most often red and green. This disease has no cure.

"Hare Lip"

This developmental anomaly lies in the failure of upper lip that interferes with the baby's suckling. Treatment - surgical, in the first months of a child's life. This deformity can be provoked by a lack of food in a pregnant woman.

"Cleft palate"

This is a non-fusion of the upper jaw and hard palate, as a result of which the oral cavity is not separated from the nasal cavity. This defect causes food to enter the windpipe and nasal cavity. Very often, the cleft palate is observed in conjunction with the cleft lip. Treatment - surgical. The reason for this anomaly in the development of the child may be a lack of food in a pregnant woman.

Polydactyly

Polydactyly - the presence of extra fingers or lack of them on the hand or foot, fusion of fingers together, shortening or absence of limbs. Surgical treatment and prosthetics.

Anencephaly, microcephaly, hypercephaly and hydrocephalus

All these are anomalies in the development of the brain. These developmental anomalies can be provoked by a deficiency in the body of a woman or rubella, measles and some other diseases suffered by the mother during pregnancy (especially in the first weeks after conception).

If anencephaly (lack of cerebral hemispheres) is detected in a child, the pregnancy is terminated at any time.

Fusion of twins (so-called Siamese twins)

This is one of the most severe anomalies of intrauterine development of the fetus. Twins can be connected by some part of the body (pelvis, head, etc.), their circulatory and other organ systems can be isolated or connected, one twin can be developed normally, and the other is underdeveloped. These children usually die in early age. With fusion only with soft tissues and with the independent functioning of each child, the treatment is surgical.

Umbilical and spinal hernias

Hernia of the navel is an exit from the cavity under the skin of the intestine. Such hernias can go away on their own, in severe cases, surgical treatment.

Spinal hernias are the most severe fetal malformations. Most of the children suffering from these malformations die, and paralysis is noted in the survivors, therefore, if such fetal developmental defects are detected, premature termination of pregnancy is indicated.

Malformations of the heart and blood vessels

The cause of these fetal malformations may be a viral or bacterial disease transferred by the mother during pregnancy, as well as a lack of oxygen.

These heart defects, depending on their severity, are treated medically or surgically.

In severe cases, the child dies in utero or immediately after birth.

All anomalies in the development of the fetal skeleton are due to gene or chromosomal abnormalities in the cells of the unborn child.

In addition, other hereditary diseases are very rare (Hirschsprung's disease, Huntington's disease, Ponter's disease, Willebrand's disease, Tay-Sachs disease, Fraser syndrome, Patau syndrome, Turner's syndrome, marble disease, and many others). Developmental defects also include various birthmarks, some congenital skin diseases, congenital hip dislocation, craniocerebral hernia and others.

Currently, more than 3.5 thousand hereditary developmental anomalies are known. It has been found that more than 5% of all children born are born with various pathologies.

All considered chromosomal and gene hereditary diseases are practically independent of the external environment.

by another group hereditary diseases are those to which the child has a hereditary predisposition, but clinically this disease manifests itself only when certain conditions external environment. These diseases include: diabetes, psoriasis, gastric ulcer, hypertension, gout and some others.

Some of the hereditary diseases appear only in old age (for example, Alzheimer's disease, atherosclerosis, gout).

If relatives in your family had various serious hereditary diseases, special medical genetic examinations must be completed before conceiving a child.

The risk of developing a hereditary disease and various deformities of the child in closely related marriages increases many times over.

No need to be scared: the considered congenital hereditary diseases are very rare (most often 1 child in several thousand births). Every expectant mother from the first days of pregnancy to the very birth worries about how her baby will be born, whether he will be healthy.

The description of all these malformations is not given to intimidate you, but to make you understand that the health of your baby is almost completely dependent on you.

If you eat right and future baby receives all the substances necessary for his life and development (proteins, fats, carbohydrates, vitamins, especially folic acid, and mineral salts) - the probability of having a sick child is negligible.

For proper cell division, including at the embryonic stage, formation and growth of all internal organs, metabolism of the fetus, its hematopoiesis requires folic acid; in addition, it prevents premature births and miscarriages. Also, if you are driving correct image life, do not smoke, do not use drugs and alcohol, your genetics does not have serious hereditary diseases, then the risk of giving birth to an unhealthy child is practically absent, and you can be calm about your future baby.

If your relatives have any disease that is inherited, you need to be examined by a doctor and start timely treatment to prevent this disease or to terminate the pregnancy in a timely manner in especially severe cases. It is necessary to refrain from pregnancy for women over 40 years old.

On present stage development of medicine, most of these developmental anomalies are detected in the early stages of pregnancy.

The most important thing for maintaining the health of the mother and the unborn baby is to register at the antenatal clinic as early as possible, visit it regularly and follow all the prescriptions of your doctor.

About availability birth defects development of the fetus, parents become aware even before the birth of the baby into the world. It is possible to identify deviations in the development of the child when intrauterine diagnosis. Of course, such news causes unpleasant emotions, while parents blame themselves, first of all. How dangerous are intrauterine fetal malformations and what threatens such a diagnosis after the birth of a child?

The most common are heart defects, neural tube defects, and Down's syndrome. Moreover, such deviations are diagnosed in babies whose parents are absolutely healthy.

All defects are divided into hereditary and acquired, which arose during fetal development. At the same time, defects develop at the very beginning of pregnancy, when all the organs and systems of the unborn baby are being laid. Therefore, it is very important that the pregnancy is planned, which will help eliminate adverse factors that contribute to the development of abnormalities.

Very often there are congenital malformations of the respiratory, digestive, nervous, genitourinary, vascular-cardiac, musculoskeletal systems, while a single organ or the entire specific system can be affected. There are also congenital malformations of the lips, ears, palate, neck, eyes.

Causes of congenital malformations of the fetus

Allocate risk groups of future parents who are most susceptible to the appearance of birth defects in a child. These include:

future parents who already have children with congenital defects;
future parents who have blood relatives with congenital abnormalities;
female age over 35 years and male age over 50 years;
unfavorable living conditions, which include: polluted environment(especially radiation), work in hazardous industries.

Throughout pregnancy, the unborn baby is in the water, so the lack of amniotic fluid can cause mental retardation of the child.

Taking medications that are prohibited during pregnancy can also cause birth defects, especially lung and heart defects in the fetus.

The wrong position of the baby before childbirth threatens expectant mother caesarean section, as well as hip dysplasia in the baby, if the birth takes place naturally.

During pregnancy, “childhood” diseases that a woman can get during this period of time pose a great danger to the unborn baby, namely: chicken pox, rubella, measles, acute respiratory infections and SARS. Therefore, it is important to protect yourself from such diseases, because they lead to congenital deformities.

Good nutrition during pregnancy is the key to the health of the unborn baby. The intake of organic multivitamin complexes is important for all expectant mothers. Healthy food, good rest and positive attitude a must for every pregnant woman.

Bad habits, especially smoking, taking alcoholic beverages and drugs, will certainly lead to birth defects in a child.

Classification of congenital malformations of the lungs in the fetus

A congenital lung defect in the fetus develops at 6-8 weeks, when the lung is laid, and also at the eighth month of pregnancy, when the alveolar tissue develops and can manifest itself both in infancy and in adulthood.

Defects in the development of not only the lung, but also the bronchi and pulmonary vessels are also possible. Such deviations lead to shortness of breath, cough with a purulent secretion, respiratory failure, which leads to a delay in mental and physical development baby.

Often children suffer from nonspecific chronic lung diseases, which are congenital malformations of the lung.

The causes of congenital lung disease include trauma to the mother during pregnancy, heredity, and chemical poisons that have entered the body of the expectant mother.

Classification of lung disease:

Types of congenital malformations of the lung in the fetus

Cystic-adenomatous formations in the lobes of the lung are characterized by the presence of cysts and adenomas in the lungs. X-rays are used for accurate diagnosis. chest. In this case, it is necessary to consult a pediatric surgeon and surgical intervention to eliminate the disease.

Congenital lobar emphysema is an overinflation of one lobe of the lung. In this case, complications are possible in the form of compression of the lung tissue, which threatens to obstruct the blood supply to a healthy lung. For such a case, constant monitoring of the baby's condition is necessary, surgery is required in rare cases.

Sequestration of the lung can lead to the development of heart disease. This pathology is detected by ultrasound. When this is necessary surgical treatment because there is a high chance of spreading the infection.

Agenesis and aplasia of the lungs is quite rare, this type of defect is incompatible with life.

Hypoplasia of the lungs small lung) can be single or double sided. This defect is characteristic of oligohydramnios.

Pulmonary hyperplasia is characterized by an increase in the lung and is a consequence of other lung defects.

An accessory lung (tracheal accessory lung) occurs in isolated cases.

A horseshoe lung is characterized by the connection of the lungs in front of the esophagus and behind the heart.

Ectopic lung tissue occurs in the neck, abdominal cavity and chest.

Heterotopia in the lungs - the presence of tissues of other organs in the lungs.

Cystic lung disease is subdivided into: bronchogenic cysts, extralobar and intralobar sequestrations, infantile lobar emphysema, pulmonary dysplasia. All types of cystic lung disease are divided into 4 types depending on the severity of the disease.

Congenital surfactant deficiency (congenital alveolar proteinosis) is a hereditary defect. Death, in this case, occurs in the first year of a baby's life.

Primary pulmonary hypertension is characterized by a violation of the pulmonary circulation in the lungs. This defect is characterized by the sudden death of the baby, in rare cases, death occurs in the first month of life.

Benign familial pneumothorax occurs in adolescence in boys.

Treatment of congenital malformations of the lungs

To prevent the development of purulent infectious processes in the lungs, traditional treatment medicines. It is also necessary to undergo procedures for washing the bronchi. Used for therapy different kinds inhalations, massages, physiotherapy exercises. It is recommended to take expectorants. Every year it is necessary to visit sanatorium-resort institutions for treatment and prevention.

In difficult cases, decisions are made on emergency or planned operations.

Prevention of congenital lung defects in the fetus is considered to be the exclusion of adverse effects during pregnancy.

Congenital malformations of the fetus are one of the most serious complications of pregnancy, which leads 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 increasing all over the world. In Russia, the frequency of this pathology is 5-6 cases per thousand births, in Western Europe this figure is about half as low.

Causes of congenital malformations

The formation of congenital malformations in the fetus can lead to various reasons. 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 chromosomal sets of the father or mother, as well as a lack of vitamins in the diet of a pregnant woman, especially folic acid.

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 caused by 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 process of 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 called such defects, the development of which is due to the combined influence of genetic and environmental factors.

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

Gametopathy or blastopathy. Developmental disorders occur already at the stage of the zygote or blastula. They are of a very rough nature. Most often, the embryo dies and its rejection occurs - spontaneous abortion. In cases where a miscarriage does not occur, a non-developing (frozen) pregnancy occurs.
Embryopathy. Developmental defects occur in the period from 15 days to 8 weeks of embryonic life. Embryopathies are the most common cause of congenital malformations of the fetus.
Fetopathy. Occurs under the influence of adverse factors after 10 weeks of pregnancy. In this case, congenital malformations are usually not gross in nature and are manifested by the appearance of various functional disorders, delayed mental and physical development, weight loss.

In addition, primary and secondary congenital malformations of the fetus are distinguished. Primary is 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. According to this classification, there are:

Congenital malformations nervous system. These include spina bifida (open spinal hernia), underdevelopment of the brain (hypoplasia) or its complete absence (anencephaly). Congenital malformations of the nervous system are very severe 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).
birth defects of cardio-vascular 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?

Pregnancy planning should be approached very responsibly. The high risk group for the birth of 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 who are in kinship(cousins, second cousins and brothers);
If the age of a man exceeds 50 years, and women 35 years;
If a man or woman is exposed to the above adverse factors due to their health or professional activities.

If you belong to a group high risk for the birth of a child with malformations, then before the start of active pregnancy planning, you should definitely visit a geneticist. The specialist will compile a pedigree and calculate the risk of having a sick child. At very high risk, couples are usually advised to resort to artificial insemination of a donor egg or insemination with the donor's sperm.

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

What to do if your baby has a congenital malformation?

Any married couple who gave birth to a sick child, and especially with congenital malformations of the nervous system, is experiencing a state of psychological shock. In order to cope with it, contact geneticists 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 probability rebirth in these spouses of a sick baby.

The final medical genetic consultation should be carried out no earlier than three months after birth. During this time, 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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The birth of a child with birth defects development 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 a 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 fetal 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 - geneticists, 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-curdling 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, 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.

Anomaly	Inheritance mechanism	Manifestation	Treatment and rehabilitation measures
Phenylketonuria (PKU)	Autosomal recessive inheritance - the birth of a sick child from healthy parents is possible. The frequency in the population is 1:2000.	A gross delay in mental and physical development associated with a violation of the metabolism of the amino acid phenylalanine.	Examination of ALL newborns for PKU on the 4-5th day of life. special diet helps prevent the development of the disease.
Hemophilia	Sex-linked recessive inheritance. Mainly men are ill. Passed down from mother to sons.	The disease is caused by a deficiency of certain blood clotting factors. Shows bleeding.	Treatment for bleeding - blood transfusion, plasma; hemostatic agents of general action; antihemophilic globulin; prevention of injury and bleeding.
color blindness	Sex-linked recessive inheritance. It is observed predominantly in men. Passed down from mother to sons.	Partial color blindness. It spreads most often to red and green colors.	Color vision disorder is detected using special tables or spectral instruments. Daltonism cannot be treated.
Down's disease	Chromosomal anomaly: in the mother, during the maturation of the egg, under the influence of reasons that have not yet been clarified, 3 chromosomes are formed in the 21st pair of chromosomes instead of 2. The frequency in the population is 1:700.	One of the forms of congenital dementia. The degree of mental underdevelopment varies considerably. Patients are mostly affectionate, good-natured, friendly.	Therapeutic pedagogy based on the tendency of patients to imitate. Education in auxiliary schools, occupational therapy.
	Autosomal dominant inheritance, transmitted to children from parents with a congenital form of the disease.	Omission upper eyelid due to underdevelopment of the muscle that lifts it.	Surgery.

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 only be taken as prescribed by the attending physician and taking into account their possible influence to the fruit. (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 harmful to 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 (i.e. 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 chemicals . Women who, by the nature of their work, have contact with active chemicals pregnancy should be planned. 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 disease has a slightly higher chance of giving birth to a child with a defect in the development of the cardiovascular system 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 low - 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.

developmental defect	Manifestations	Treatment
	The exit of internal organs or deep tissues from the cavities usually occupied by them, under the skin or into intermuscular tissue without violating the integrity of the integument.	Massage, in case of its ineffectiveness - surgical treatment.
Congenital dislocation and congenital dysplasia of the hip joint	Congenital hip dysplasia - underdevelopment of the tissues of the hip joint, lack of correspondence between the articular surfaces - a condition preceding the dislocation of the hip joint.	With dysplasia - the use of various orthoses (devices for hip abduction) in children under one year old. With dislocation - reduction, the imposition of special orthoses in the first months of life. With the ineffectiveness of such treatment - a surgical operation.
Upper lip cleft (cleft lip)	Nonunion of the lateral parts of the upper lip with its middle part. It can be unilateral and bilateral. Difficulty sucking.	Surgery in the first months of life.
Non-closure of the sky (cleft palate)	Non-closure of the upper jaw and hard palate, resulting in a cleft that connects the oral and nasal cavities. It causes malnutrition (ingress of food into the windpipe, into the nasal cavity), breathing and speech. Often associated with a cleft lip.	Surgery and prosthetics; dispensary observation (change of medical devices) up to 16 years.
Polydactyly	Polydactyly - polydactylism, the presence of extra fingers on the hand or foot. The most common of congenital malformations; most often found in the form of six-fingered, usually on one limb.	Surgery.
Congenital heart defect	Incorrect intrauterine formation of the septum of the heart (for example, non-closure of the interatrial or interventricular septum) or the preservation of intrauterine circulation features after birth (for example, an open ductus arteriosus) .	With minor ventricular septal defects, as the heart grows, the relative size of the hole decreases - up to complete spontaneous closure. In other cases, surgical treatment.

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 and sisters);
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 medicinal product, which you took at the very beginning of pregnancy, is not recommended for use during this period; if you took alcohol, drugs or suffered an acute respiratory viral infection, took an X-ray during pregnancy, etc. Be sure to contact a medical genetic consultation, where they will be able to correctly assess the 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 regarding 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.

The nuclei of somatic (non-sex) cells contain 23 pairs of chromosomes, of which one pair is sex chromosomes. In women, this pair consists of two identical chromosomes, conditionally called X chromosomes; in men, these chromosomes are different - X chromosome and Y chromosome. Non-sex chromosomes are called autosomes.
In germ cells, there are half as many chromosomes - not 23 pairs, but 23 pieces.

During fertilization, the nuclei of the egg and sperm fuse and future man receives a complete set of chromosomes, thus inheriting both maternal and paternal traits.

Chromosomes are made up of genes. For each sign in the body, a pair of genes is responsible - "mother" and "dad". (The exception is the XY pair of sex chromosomes in males: not all genes on the X chromosome have “partners” on the Y chromosome.) In each pair, one gene dominates (dominant gene), i.e. the variant of the trait conditioned by it appears, the other is “inferior” (recessive gene). Under unfavorable circumstances, both genes in a pair or one of them may be carriers pathological sign. In the first case, their "owner" is undoubtedly ill. If we are dealing with only one "sick" gene, two options are possible: (1) the dominant gene is "responsible" for the disease - then its carrier is sick; (2) a carrier of a pathological trait - a recessive gene - then the person is healthy (more precisely, as doctors say, phenotypically healthy, that is, if there is a "sick" gene in the genotype, there are no manifestations of the disease).

Autosomal dominant inheritance pattern

The carrier of a pathological trait is a dominant gene contained in an autosome (non-sex chromosome). With this type of inheritance, the birth of a sick child from healthy parents is possible only as a result of a new mutation. Such an event is usually regarded as random and the risk of recurrence is low. Another situation is when one of the parents suffers from a disease or has a developmental defect with an autosomal dominant inheritance pattern. At the same time, half of the children can inherit such a defect or disease; boys and girls are equally affected. Such developmental defects have varying degrees of severity, in some cases they are not gross and, after successful correction, do not interfere with normal life.

Autosomal recessive inheritance pattern

The carrier of a pathological trait is a recessive gene contained in the autosome. With an autosomal recessive mechanism of inheritance, the situation looks paradoxical - healthy parents suddenly have a child with developmental defects, often severe and even incompatible with life. The reason is the carriage by both spouses in a latent state of mutant recessive genes. Just as in the autosomal dominant type, boys and girls are equally susceptible to the disease. The likelihood of re-birth of a sick child in this marriage is 25%, which is considered high genetic risk. If there is no reliable prenatal diagnosis of such a disease, then the spouses are not recommended to continue childbearing in this marriage.

sex-linked recessive inheritance

Sex-linked malformations are mainly due to recessive mutations in the female sex chromosome (this type of inheritance is also called the X chromosome). Such a sign is always transmitted through the mother - the carrier of the recessive "sick" gene (that is, the woman herself is healthy). Almost all affected are males (the affected gene of the X chromosome does not have a “partner” on the Y chromosome that could dominate it). A sick man never transmits the disease to his sons (after all, they receive from him a “healthy” Y-chromosome, not a mutant X-chromosome), but all his daughters will be carriers of the “fatal” gene.
We have intentionally sketched the types of inheritance to give the reader a general idea of the nature of these mechanisms. In fact, everything is much more complicated - much less unambiguous and definite.