CDF of the fetus - what is it. Malformations of the reproductive system. Sex-linked recessive inheritance

25.06.2019

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 (deformities) 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 some drugs), poor environment, and for the remaining 70% of deformities, the reasons have not been established.

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

Currently, hundreds of chemical reagents have been established that can cause disruption of chromosomes or genes in parents and provoke intrauterine fetal malformations.

Anomalies of development can be different: complete absence of any organ (for example, a kidney), underdevelopment of an organ (its small size and mass), too much development of an 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, for example, 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 child deaths). It is noted that in recent years, the percentage of intrauterine fetal anomalies has been steadily growing.

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

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

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

Of all the disturbances in the 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 result in fetal death or the birth of an unviable child.

Down Syndrome

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

Most often, a child with Down syndrome is born to an elderly mother or father (over 40). 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 provided by the study of amniotic fluid. When this pathology is detected in the fetus, the parents themselves have the right to decide whether to leave this child to them or not.

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

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

Edwards syndrome

This is the second most frequent hereditary disease after Down's disease associated with the presence of an extra chromosome in cells. With this disease, the fetus develops multiple defects. Most often, this syndrome occurs in children born to elderly mothers, mainly girls. In such a child, there is a violation of the size of the bones of the skull, sternum, foot, body proportions. In addition, the external auditory canal may be absent, there are heart and blood vessel defects, abnormalities 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, these children live longer, but they are all oligophrenic (mentally retarded).

Klinefelter's syndrome

This is a fairly common hereditary disease caused by a change in the number of chromosomes. This syndrome only develops in boys born to older mothers. This disease manifests itself only during puberty of the child; he has underdevelopment of the testicles, there are no sperm in the sperm or a reduced number of sperm, infertility develops. External development of the boy according to the female type: narrow shoulders, wide pelvis, long legs, enlarged mammary glands. Mental and mental abnormalities can be noted. When the first signs of this disease are detected, you must immediately consult a doctor to begin treatment (most often hormonal).

Hemophilia

This hereditary disease is passed on to the child from the mother. This disease manifests itself only in boys. With hemophilia, blood clotting is impaired. With appropriate treatment, this disease is not a death 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 gonads. Mucus accumulates in the body in large quantities, a painful cough occurs, wheezing in the lungs, the heart is affected, the pancreatic ducts are clogged, diarrhea is replaced by constipation, the abdomen is swollen, children grow poorly and gain weight, the limbs are thin, with a characteristic shape of the fingers, the chest is deformed, the skin tastes salty (if licked). The mental development of such patients is normal, and sometimes even above average. This serious congenital disease is currently not completely cured, but with proper supportive therapy, such patients can live a long and full life. They must receive certain medications all their lives.

Phenylketonuria

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

Color blindness

This hereditary disease is passed from mother to son and manifests itself in the fact that the child does not distinguish some colors (that is, color vision is partially impaired), most often red and green. This disease cannot be cured.

"Hare lip"

This developmental anomaly is the opening of the upper lip, which interferes with the sucking of the baby. Treatment is surgical, in the first months of a child's life. A lack of food for a pregnant woman can provoke this deformity.

"Cleft palate"

This is a non-closure 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 is surgical. The reason for this anomaly of the child's development may be a lack of food for a pregnant woman.

Polydactyly

Polydactyly - the presence of extra fingers or a 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 abnormalities in the development of the brain. These developmental anomalies can be provoked by a deficiency in a woman's body or by rubella, measles and some other diseases suffered by the mother during pregnancy (especially in the first weeks after conception).

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

Fusion of twins (the so-called conjoined twins)

This is one of the most severe anomalies in fetal development. Twins can be connected by any 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 undeveloped. These children usually die at an early age. In case of fusion only with soft tissues and with independent functioning of each child, the treatment is prompt.

Navel and spinal hernias

A navel hernia is an exit from a 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 children suffering from these developmental defects die, and the survivors are paralyzed, therefore, if such defects in fetal development are found, premature termination of pregnancy is indicated.

Malformations of the heart and blood vessels

The cause of these malformations of the fetus can 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 with medication or surgery.

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

All anomalies in the development of the fetal skeleton are caused by genetic 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, von Willebrand disease, Tay-Sachs disease, Fraser's syndrome, Patau's syndrome, Turner's syndrome, marble disease and many others). Malformations also include various birthmarks, some congenital skin diseases, congenital dislocation of the hip, cranial hernias, and others.

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

All considered chromosomal and gene hereditary diseases practically do not depend on the external environment.

Another group hereditary diseases are those to which the child has a hereditary predisposition, but clinically this disease manifests itself only under certain environmental conditions. Such diseases include: diabetes mellitus, psoriasis, stomach ulcers, hypertension, gout and some others.

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

If relatives in your family have had various serious hereditary diseases, it is necessary to undergo special medical genetic tests before conceiving a child.

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

Do not be alarmed: the congenital hereditary diseases considered are very rare (most often 1 child per 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 it will be healthy.

The description of all these malformations is given not to intimidate you, but so that you understand that your baby's health is almost entirely dependent on you.

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

For the correct division of cells, including at the stage of the embryo, the formation and growth of all internal organs, the metabolism of the fetus, its hematopoiesis, folic acid is needed; in addition, it prevents premature birth and miscarriages. In addition, if you lead a correct lifestyle, do not smoke, do not use drugs and alcohol, your genetics does not have serious hereditary diseases, then there is practically no risk of giving birth to an unhealthy child, and you can be calm about your future baby.

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

At the present stage of development of medicine, most of the listed 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 with the antenatal clinic as early as possible, visit it regularly and follow all the prescriptions of your doctor.

It is very difficult for parents to hear that their child has developmental disabilities. This information often becomes known even during intrauterine diagnostics. 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 will happen next for children with developmental disabilities?

First of all, you need to know: a child with congenital defects can be born in any family, even to young and healthy parents. According to statistics, the frequency of these cases reaches 5%. Revealing the causes of congenital malformations of the fetus (CMF) 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.

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

Congenital heart defects;
Neural tube defects
Down Syndrome.

Fetal malformations: causes

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

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

Most congenital malformations occur during the first trimester. Gametopathies are the result of mutations in the germ cells or abnormalities in the sperm and eggs. Blastopathies develop within the first two weeks after fertilization. Embryopathies are the most common pathologies, occurring during the period from 2 to 8 weeks of pregnancy. Finally, fetopathies can occur after 9 weeks - for example, cryptorchidism or organ hypoplasia.

Fetal malformations can affect one organ, or several at the same time. Systemic disorders include abnormalities of the respiratory system, nervous, cardiovascular, musculoskeletal, reproductive, urinary and digestive systems. Defects such as defects of the face, eyes, ears, neck, palate and lips are distinguished into separate groups.

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

Families in which children with congenital malformations have already been born;
Families where parents have blood relatives with congenital malformations;
Parents are over 35 years old for women and 50 years old for men;
Consanguinity between parents;
Exposure to teratogenic factors (living in an ecologically 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 the causes of congenital malformations are not limited to these points.

One of the very dangerous factors of exposure is viral diseases, suffered 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 related to life.

Taking medications (especially hormonal ones) in the first trimester can also be extremely dangerous, so doctors never tire of warning that any treatment during this period should be carried out only under the supervision of a doctor.

Maternal endocrine disorders, including diabetes mellitus, are also at risk. Irradiation (radiation, X-rays) in some cases can cause fetal abnormalities, 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 - is a great danger to the development of the child. In addition, abnormalities in the development of the cardiovascular system of the fetus are also found in women living in highlands with thin air. Injuries and falls, abnormal fetal position, the presence of tumors can affect the blood supply to the fetus and cause congenital malformations.

Maternal nutrition can also affect the occurrence of fetal malformations - for example, folic acid deficiency has been shown to increase the risk of neural tube abnormalities in a child. Finally, the work of the child's father in hazardous work can lead to sperm abnormalities, which is also one of the causes of congenital malformations.

How to act if a child has a developmental defect

We have already said about the shock that invariably befalls the 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 timing allows 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 carried out in the first days of life. A number of defects make it possible to postpone the operation or even undergo conservative treatment. Parents need to try to collect the maximum amount of information about this disease in order to know all its symptoms and treatment features. Of course, such babies will be under constant medical supervision and undergo regular examinations. There are a number of dietary and physical activity restrictions that your pediatrician will tell you about.

Congenital malformations of the fetus (CM) are perhaps the most dangerous complication of pregnancy, leading to childhood disability and mortality.

The birth of a child with congenital developmental defects is always a big trauma for any parent. The statistics in this regard are not comforting: in Russia, the incidence of congenital malformations reaches 5-6 cases per 1000 children.

1. Hereditary

Hereditary diseases are the result of gene mutations. Mutation is a change in the hereditary properties of an organism due to rearrangements in structures that are responsible for the storage and transmission of genetic information. These include Down syndrome, Patau syndrome, and others.

2. Congenital

Congenital anomalies are diseases acquired in the womb due to the influence of external factors (and trace elements, trauma during pregnancy, etc.). They can affect almost any organ. Congenital malformations of the fetus include heart defects, underdevelopment of the brain, maxillofacial deformities, etc.

3. Multifactorial (combined factor)

The division of fetal anomalies into species is rather arbitrary, because in the overwhelming majority of cases, developmental delays are a combination of hereditary and congenital factors.

Classification of fetal malformations

The most common fetal malformations are:

Aplasia (absence of any organ);
Dystopia (the location of the organ in an uncharacteristic place for it);
Ectopia (displacement of an organ outward or into an adjacent body cavity);
Hypotrophy, hypoplasia (decrease in fetal body weight, underdevelopment);
Hypertrophy, hyperplasia (an increase in the size of an organ);
Atresia (clogging of natural holes);
Fusion of paired organs;
Stenosis (narrowing of the canals and openings of the fetal organs);
Gigantism (an increase in the body and internal organs of the fetus in size);
Dyschrony (acceleration or inhibition of the development of processes).

I would like to note that the severity of pathologies can be completely different. It depends on the location of the genetic breakdown, as well as on the duration and intensity of the toxic effect on the fetus. There is no clear relationship between them.

A woman who has been toxic during pregnancy can give birth to an absolutely healthy baby. At the same time, the risk of a developmental delay in the future offspring of this fetus remains, as a result of genetic breakdown with the absence of clinical manifestations.

Causes of fetal malformations

The issue of studying pathologies of fetal development is very diverse. This topic is dealt with by specialists of different levels and directions - genetics, embryologists, neonatologists, specialists in prenatal diagnostics.

It is sometimes not so easy to understand the reasons for the appearance of VLOOKUP. Deviations in the set of chromosomes of one or both parents lead to the birth of a child with diseases such as Down syndrome, Patau syndrome, Edwards syndrome, hemophilia, color blindness, etc.

The cause of hereditary pathologies is a gene mutation. Various adverse effects on the organs of the fetus during pregnancy, especially during critical periods of its development, lead to the appearance of congenital anomalies. The factors that cause CM are called teratogenic.

The most studied teratogenic factors:

medication (taking drugs prohibited during pregnancy or during a certain period of pregnancy);
infectious (measles, chickenpox, transmitted from mother to fetus);
ionizing radiation (X-rays, radioactive radiation);
alcohol factor (the intake of a large amount of alcohol by a pregnant woman can lead to severe alcohol syndrome in the fetus, incompatible with life);
nicotine factor (smoking during pregnancy can provoke a lag in the development of the child);
toxic and chemical (women working in hazardous industries, a few months before pregnancy and for its entire period, should exclude contact with aggressive chemical and toxic substances in order to avoid the appearance of a teratogenic effect in the fetus);
lack of vitamins and microelements (lack of folic acid and omega-3 polyunsaturated acids, proteins, iodine, lack of a balanced diet can lead to a delay in fetal development, disruption of the brain).

Often, hereditary predisposition plays an important role in the appearance of fetal congenital malformations. If the parents or close relatives of the child have had congenital malformations, then the risk of giving birth to a child with the same defects increases many times.

Critical periods of fetal development

Intrauterine development of the fetus lasts an average of 38-42 weeks. All this time, the fetus is well protected from external factors by the placental barrier and the mother's immune system. But there are 3 critical periods in which he is very vulnerable to harmful agents. Therefore, at this time, a pregnant woman should especially take care of herself.

The first critical period occurs approximately 7-8 days after fertilization, when the embryo passes the stage of implantation into the uterus. The next dangerous period is from 3 to 7 and from 9 to 12 weeks of pregnancy, when the placenta is formed. Disease, chemical or radiation exposure to a pregnant woman during these periods can lead to intrauterine fetal malformations.

The third critical period of pregnancy is weeks 18-22, when the neural connections of the brain are laid and the hematopoietic system begins to work. A delay in the mental development of the fetus is associated with this period.

Risk factors for fetal anomalies

Risk factors for congenital malformation on the part of the mother:

age over 35 years - intrauterine growth retardation, genetic disorders;
age up to 16 years - prematurity, lack of vitamins and minerals;
low social status - infections, fetal hypoxia, prematurity, intrauterine growth retardation;
lack of folic acid - congenital malformations of the nervous system;
alcohol, drugs and smoking - intrauterine growth retardation, sudden death syndrome, fetal alcohol syndrome;
infections (chickenpox, rubella, herpes infections, toxoplasmosis) - congenital malformations, intrauterine growth retardation, pneumonia, encephalopathy;
arterial hypertension - intrauterine growth retardation, asphyxia;
polyhydramnios - congenital malformations of the central nervous system, pathology of the gastrointestinal tract and kidneys;
diseases of the thyroid gland - hypothyroidism, thyrotoxicosis, goiter;
kidney disease - intrauterine growth retardation, nephropathy, stillbirth;
diseases of the lungs and heart - congenital heart defects, intrauterine growth retardation, prematurity;
anemia - intrauterine growth retardation, stillbirth;
bleeding - anemia, prematurity, stillbirth

Risk factors for congenital malformations from the fetus:

fetal presentation anomalies - hemorrhage, congenital malformations, trauma;
multiple pregnancy - fetofetal transfusion, asphyxia, prematurity;
intrauterine growth retardation - stillbirth, congenital malformations, asphyxia,
Risk factors during delivery:
premature birth - fraught with the development of asphyxia;
late labor (delay in labor for 2 weeks or more) - development of asphyxia or stillbirth is possible;
long labor - asphyxia, stillbirth;
prolapse of the umbilical cord - asphyxia.

Placental anomalies:

small placenta - intrauterine growth retardation;
large placenta - the development of dropsy of the fetus, heart failure;
premature placental abruption - possible large blood loss, development of anemia;
placenta previa is fraught with blood loss and the development of anemia.

Diagnosis of fetal malformations

Prenatal diagnosis of fetal anomalies and genetic pathologies is a very complex process. One of the stages of this diagnosis is screening examinations assigned to a pregnant woman at 10-12, 20-22 and 30-32 weeks (in each trimester). This test is a blood test for biochemical serum markers of chromosomal pathology (malformations).

This will make it possible to obtain an assumption about the presence or absence of chromosomal abnormalities in the fetus, and an ultrasound scan as an additional diagnostic method will show whether there are abnormalities in the physical development of the fetus. Ultrasound should be performed by a highly qualified specialist and on high-quality equipment. The results of each study are evaluated jointly, without breaking with each other.

Screening does not guarantee one hundred percent pathology, it only allows you to identify a high-risk group among pregnant women. This is an important and necessary measure and, despite the voluntary nature, most expectant mothers understand this. There are frequent cases when specialists find it difficult to answer the question of the presence of genetic defects in the fetus. Then, depending on the trimester of pregnancy, the patient is assigned invasive research methods:

(study of chorionic villi)

It is done in the 1st trimester of pregnancy (11-12 weeks) and allows you to identify genetic abnormalities in the development of the fetus.

amniocentesis (examination of the anatomical fluid in which the fetus is located)

In the 1st trimester, this analysis reveals hyperplasia of the adrenal cortex, in the 2nd trimester - diseases of the central nervous system, chromosomal pathologies.

placentocentesis (examination of placenta particles)

Performed from 12 to 22 weeks of pregnancy to identify genetic pathologies.

(taking blood from the umbilical cord of the fetus)

Allows you to identify the susceptibility of the fetus to genetic or infectious diseases.

Pregnant women are referred to a mandatory consultation with genetics:

whose age is over 35;
have a child or children with genetic disabilities;
had a history of miscarriages, undeveloped pregnancy, stillbirth;
in the family of which there are relatives with Down syndrome and other chromosomal abnormalities;
recovered from viral diseases in the 1st trimester of pregnancy;
taking drugs prohibited during pregnancy;
exposed to radiation.

To diagnose fetal pathologies after birth, they are used the following research methods: analyzes of blood, urine and other biological fluids, X-rays, computed and magnetic resonance imaging, ultrasound, angiography, broncho and gastroscopy, other immune and molecular methods ...

Indications for termination of pregnancy

Any detection of congenital malformations of the fetus implies a proposal to terminate the pregnancy for so-called medical reasons. If a woman refuses to do this and decides to leave the child, she is taken under special control and the pregnancy is monitored more closely.

But the expectant mother should understand that not only her feelings and experiences are important here, but also the fact that children born with serious defects and pathologies often turn out to be unviable or remain deeply disabled for life, which, of course, is very difficult for any family.

There are other indications for termination of pregnancy:

malignant neoplasms (pregnancy with cancer is contraindicated);
diseases of the cardiovascular system (heart defects, deep vein thrombosis, thromboembolism);
neurological diseases (multiple sclerosis, myasthenia gravis);
infectious diseases (in active form, in acute and severe stages,);
diseases of the blood and blood-forming organs (hemoglobinopathy, aplastic anemia, leukemia);
eye diseases (diseases of the optic nerve and retina);
kidney disease (acute urolithiasis and with large calculi, acute);
diffuse connective tissue diseases;
endocrine disorders (, thyrotoxicosis, uncompensated hypothyroidism in severe forms);
some gynecological diseases;
obstetric indications (refractory to therapy and strong, accompanied by severe vomiting, gestational trophoblastic disease, severe hereditary diseases identified during pregnancy, etc.)

Abortion for medical reasons is carried out only with the consent of the patient.

Prevention of congenital malformations of the fetus

The main activity aimed at preventing the appearance of congenital malformations of the fetus is pregnancy planning. Quality preparation can affect not only the success of conception, but also the process of gestation, quick and correct delivery and the health of the mother and child in the future.

Before planning a pregnancy, it is necessary to undergo a number of examinations: pass tests for (STD), HIV, hepatitis, syphilis, check blood clotting, hormonal status, oral cavity sanitation, do ultrasound of the pelvic organs to exclude inflammatory diseases and neoplasms, visit a therapist to identify all possible chronic diseases, ideally genetic testing for both parents.

The key point in the prevention of congenital fetal anomalies is maintaining a healthy lifestyle, giving up bad habits, balanced and nutritious nutrition, excluding any negative and harmful factors affecting your body. During pregnancy, it is important to timely treat all possible diseases and follow the instructions of the obstetrician-gynecologist.

Treatment of congenital malformations of the fetus

Treatments for congenital malformations of the fetus vary greatly depending on the nature and severity of the anomaly. Unfortunately, the statistics on this issue are not encouraging. A quarter of children with congenital anomalies die within the first year of life.

The tendency for the birth of babies with developmental disabilities is increasing. Today, according to statistics, in European countries for every thousand births, about 3-4 children are born with a developmental anomaly. In Russia, fetal anomalies are more common - there are 5-6 children with congenital defects per thousand newborns. Almost half of the cases of pathological intrauterine development of the fetus still remain unknown, perhaps this is due to the influence of several factors at once that affect the embryo. Why are fetal developmental abnormalities so common, how are intrauterine abnormalities diagnosed?

Causes of fetal malformations

Fetal development is influenced by many factors - they can be external, for example, ecology, or internal - the state of the mother's health affects the embryo. Heredity plays a key role in the proper development of the fetus. Let's take a closer look at each reason why a child can be born with some kind of anomaly.

1. Heredity... Very often, the cause of the malformation of organs and systems in the fetus is a hereditary factor. If there is a history of malformations in the family of parents, then the chances of giving birth to an unhealthy child increase.

2. Infections transferred by the mother, especially in the early stages, are dangerous for the embryo. These include viral diseases such as cytamegalovirus, measles, rubella, mumps, and others. Even the flu virus is dangerous. Infections transferred by a pregnant woman lead to heart defects, brain underdevelopment, deafness, eye abnormalities and other problems.

3. Bad habits of the mother- if a pregnant woman takes drugs, alcohol, smokes, then toxic substances entering the fetus through the mother's bloodstream can cause significant anomalies in its development.

4. Medicines. Taking different medications in the early stages of gestation has a detrimental effect on the embryo. If there is a need for treatment, pregnant women should not take pills and medicines at their own discretion, only under the supervision of a doctor.

5. Exposure to chemicals... During pregnancy (especially in the 1st trimester), strong toxic chemicals - mercury vapor, lead, benzene - are especially dangerous for the embryo. If a woman's work is somehow connected with contact with these substances, it is necessary to leave the place of work when planning a pregnancy.

6. Irradiation... The embryo is many times more susceptible to X-rays. It has a particularly strong effect on the central nervous system and in some cases leads to brain underdevelopment, hydrocephalus, mutations of the limbs and genitals.

7. Mechanical factors... Injuries during gestation, tumors in the uterus, incorrect position of the fetus can also cause the development of intrauterine abnormalities. Fortunately, modern medicine allows you to know in advance if your baby is developing correctly. Consider methods for diagnosing fetal abnormalities during pregnancy.

Diagnosis of intrauterine abnormalities

At the initial stage of gestation, a woman is given an ultrasound scan to confirm her onset. This method allows you to confirm the introduction of the egg into the mother's endometrium and to exclude it.

1 trimester

At the next stage, starting from 9 to 13 weeks of pregnancy, expectant mothers are given the first screening study. For this, the woman's venous blood is taken, it is checked for biochemical markers:

1. Human chorionic gonadotropin (hCG hormone), which in the first trimester is constantly increasing in a certain progression. If the hCG level is lowered, this will allow you to determine the existing abnormalities during pregnancy.

2. Plasma protein - with increasing gestation period, this indicator is constantly growing. Its decrease may mean that the fetus has gene abnormalities - trisomy 21 () and trisomy 18 (the so-called Edwards syndrome).

Ultrasound examination in the 1st trimester allows you to identify chromosomal abnormalities by measuring the thickness of the collar zone of the embryo. If it exceeds 3 mm, the likelihood of pathology is high.

2 trimester

Screening of the second trimester is performed from 16 to 20 weeks of gestation. At this stage, other biochemical markers are examined:

1. Alpha-fetoprotein - produced by the liver of the fetus. This protein enters the mother's blood and its content is very informative in terms of identifying intrauterine abnormalities. A multiple increase in this hormone can signal such a pathology as the absence of a brain in the fetus.

2. HCG - the second screening also includes determining the level of hCG in a woman.

3. Estriol - its production increases during pregnancy by the placenta, and this hormone is produced by the liver of the embryo. Deviations from the norm of estriol in the mother's blood serum makes it possible to judge intrauterine abnormalities.

If there is a suspicion of improper development of the baby in the womb, women are recommended additional methods for diagnosing anomalies. Among them, such studies are chorionic biopsy, amniocentesis, as well as placentocentesis and cordocentesis. Each of these studies is carried out and is informative at a certain stage of gestation. All of these procedures are carried out under anesthesia and are prescribed only if there are strict indications.

Congenital malformations of the fetus (CMF) are one of the most dangerous complications of pregnancy, which comes first among the causes leading to childhood disability and mortality. The birth of a child with congenital developmental defects always overwhelms the family, this topic is one of the most difficult.

The statistics are frightening, against the background of decreasing child mortality, an increase in the number of congenital malformations is observed in most countries of the world. If in European countries the incidence of congenital malformations is 3-4 cases per 1000 births, then in Russia it reaches 5-6 cases per 1000.

Congenital malformations include malformations of the nervous system - anencephaly (absence of the brain), back bifida (open hernia of the spinal cord), defects of the cardiovascular system (heart defects, etc.), limb defects - atresia (absence), maxillary Facial deformities - cleft lip, cleft palate and more.

Causes of fetal congenital malformations

The reasons for the formation of congenital malformations are different. This pathology can be hereditary if future parents have abnormalities in the chromosome set. In other cases, the source of the problem is various harmful factors: infections, frequent alcohol consumption, drugs.

One of the reasons is the lack of vitamins in the diet of a pregnant woman, in particular folic acid. The recommended norm of micronutrients for a pregnant woman is one and a half times more than for women of childbearing age. And this is not accidental - the health of the child depends on it both when he is in the womb, and after his birth.

Pediatricians believe that, in addition to congenital malformations, such diseases of newborns as iron deficiency anemia, rickets or developmental delay are often associated with the fact that the expectant mother lacked vitamins and minerals during pregnancy.

Other disorders can make themselves felt much later - already in kindergarten and school: these are diseases of the gastrointestinal tract and metabolic diseases, in the first place, as well as diabetes and obesity.

It is important to remember that the lifestyle of the expectant mother, her diet, bad habits create the basis for the health of her future baby. A lack of vitamins can cause disorders in the physical and mental development of the child. This greatly increases the risk of having children with various developmental disabilities and low body weight.

Key factor: folic acid

Folic acid plays the leading role in the prevention of congenital malformations in the fetus. It is necessary for cell division, the growth and development of all organs and tissues, the normal development of the embryo, and the processes of hematopoiesis. Folic acid prevents the likelihood of premature birth and rupture of the amniotic sac.

This vitamin provides the necessary rate of growth and development of the unborn child, especially in the early stages of pregnancy. Folic acid deficiency during pregnancy significantly increases the risk of congenital malformations in the fetus, in particular neural tube defects, hydrocephalus and anencephaly. To prevent developmental disorders of the neural tube in the embryo, a woman should take at least 800 mcg (0.8 mg) of folic acid daily, both before and throughout pregnancy.

Today, doctors are confident in the need for large-scale educational activities that promote planned pregnancy and preventive measures that can significantly reduce the risk of having a baby with congenital malformations - in particular, taking medications containing folic acid.

A number of countries, such as Argentina and Turkey, are already implementing government programs to prevent congenital developmental pathologies. They consist of an educational part that explains to medical specialists and women themselves the ways of preventing fetal malformations and a stimulating part - compensation for 70-80% of the cost of multivitamin preparations containing folic acid.

Vitamins for life

There is an opinion that a well-balanced daily diet of a pregnant woman contains a sufficient amount of vitamins, microelements and in this case no additional prescription of multivitamin complexes is required. However, according to European data, vitamin deficiency in pregnant women is 20-30% even with the most balanced and varied diet.

Modern studies, regularly carried out in recent years by the Russian Academy of Medical Sciences, have shown that the diet of a modern woman, composed of natural products, is quite adequate to our energy consumption and even excessive in calories, is not able to provide the body with the necessary amount of vitamins during pregnancy and lactation.

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* A.E. Czeizel The use of multivitamins containing folic acid during conception. Europ. J. Obstetr. Gynecol. Reproductive Biology 1998,151-161.