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Pathologies of fetal development, which are detected in the early stages. Congenital malformations of the fetus. Why do you need to do an ultrasound to detect fetal malformations

Parents become aware of the presence of congenital malformations of the fetus even before the birth of the baby. It is possible to identify deviations in the development of the child with 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 prenatal 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 conditions for life, which include: a polluted environment (especially radiation), work in hazardous industries.

Throughout pregnancy, the unborn baby is in the water, so the lack amniotic fluid can cause mental retardation in a 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 narcotic drugs, 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 secret, respiratory failure, which leads to a delay in the mental and physical development of the 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. For accurate diagnosis, a chest x-ray is used. 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.

From 13 to 16 weeks of pregnancy, a woman usually gives necessary tests for determining possible pathology fetal development. And the most terrible news for a pregnant woman can be a positive test result for developmental pathology.

What are the pathologies of fetal development? How and when do pathologies occur? Is it possible to prevent pathology in the development of a child, or can it be prevented?

The most common genetic pathologies of the fetus

First of all, you need to know that there are two types of fetal pathologies: congenital and acquired. Congenital pathologies are the so-called trisomy - a change in the chromosomes of the fetus at the genetic level at the most initial stages its formation. There are a lot of types of trisomy, and one of the most famous types of trisomy is Down syndrome.

Chromosomal pathology of the fetus

Down syndrome is caused by trisomy of the 21st chromosome, that is, three pairs are represented together by two pairs of chromosomes. Down syndrome is characterized by such signs as: "flat face", shortening of the skull, skin fold of the inner corner of the eye, muscle hypotension, flat bridge of the nose, shortening of the fingers, congenital heart disease, which occurs in 40% of cases. The correlation of maternal age with the percentage of children born with Down syndrome has been very well studied. After the age of 45, the chances of conceiving a child with trisomy 21 are equal to 1 in 14. The age of the father also matters, but it is nowhere near as important as the age of the mother.

Even more known species trisomy - Edward's syndrome and Patau's syndrome. In the case of these two congenital pathologies, children have extremely low chances of survival - death during the first year of life occurs in almost 90% of cases, and congenital heart defects in such children occur in 60% and 80% of cases, respectively.

Pathologies of fetal development caused by adverse environmental conditions

Unfortunately, it also happens that a perfectly healthy genetically embryo receives any acquired developmental pathologies while still in the womb. This can be facilitated by such unpleasant things as adverse conditions environment which, unfortunately, cannot always be eliminated. Therefore, a pregnant woman especially needs to be careful if she works in any conditions that are dangerous for the development of the child. These can be factories, various factories, where a woman breathes chemicals, where heavy metals are present. Also, you need to be careful when working in laboratories.

How does the effect of toxic substances on the fetus during pregnancy?

Harmful effect chemical substances depends on the dose of the active substance, the intensity of exposure, as well as the gestational age, in what period the exposure of chemicals to the mother's body occurs. Depending on the totality of factors characterizing the degree of exposure to chemicals on the mother's body, there may be a slowdown in fetal development, intrauterine fetal death, the birth of children with congenital deformities and malformations of vital organs and systems. In many ways, the degree of exposure to chemicals on the mother's body and on the fetus depends on the degree of permeability of the placenta. The most dangerous exposure to harmful factors in early pregnancy, when there is a period of implantation, development of the placenta, and the formation of all important organs and systems.

How does radiation affect the development of a child?

It is known that radiation has a detrimental effect on the formation of a baby. Even at the dawn of the existence of nuclear reactors, people did not know the full danger that gamma radiation carries. Meanwhile, radiation can cause changes in the organs and tissues of the embryo that are incompatible with life.

The effect of radiation on female body occurs according to the general laws of radiation damage. First of all, three most important systems are affected: hormonal, immune and reproductive. During pregnancy, the body's responses to the action of an ionizing factor change. This is due to hormonal changes, a decrease in the immune status and the presence of a developing gestational sac, the elements of which (placenta, fetal membranes, amniotic fluid, fetus) accumulate individual radionuclides with varying intensity and specificity.

The degree of danger to the fetus is determined by the time the radionuclide enters the mother's body, the duration of exposure, the ability of the radioisotope to penetrate the placental barrier and accumulate in the fetus. Great importance have the form of a radioisotope, the energy of radiation, its distribution in organs and tissues, and many other factors.

If radionuclides enter a woman's body before or during pregnancy, they selectively accumulate in organs and tissues, being a constant source of exposure to the embryo and fetus. The role of the mother's body in the implementation of the negative impact on the fetus increases if a radionuclide enters her body, selectively accumulating in the organs that ensure the preservation and development of pregnancy; these are organs such as the endocrine glands, mainly the thyroid gland.

The results of exposure to radiation on the embryo and fetus are largely determined by the stage of intrauterine development. If such an impact took place in the very first weeks of pregnancy, that is, before the implantation of the embryo, then in 60-70% of cases the embryo dies. Irradiation during the period of basic organogenesis and placentation is often accompanied by the occurrence of various developmental anomalies, as well as intrauterine death of the embryo - an embryotoxic effect. The most characteristic consequence of exposure to ionizing radiation is considered to be a teratogenic effect, that is, congenital deformities. Among them, anomalies in the development of the central nervous system are of primary importance, which in the future almost always leads to mental retardation.

Irradiation in the period up to 28 weeks in some cases may be accompanied by a teratogenic effect, delayed physical development, placental insufficiency increasing the risk of developing cancer.

Congenital pathologies due to improper lifestyle

A few more causes of fetal developmental pathologies can be bad habits of the mother, such as smoking, drinking alcohol or drugs. Smoking causes fetal malnutrition - the child does not receive enough oxygen, because of this, his meninges, lungs and everything suffer. important organs vital activity. Children of smoking mothers are born weak, underdeveloped, often get sick, lag behind in physical development from their healthy peers. During pregnancy, women who smoke are at high risk of miscarriage and stillbirth. High risk of preterm birth, vaginal and uterine bleeding, premature detachment placenta and its presentation.

Children whose mothers drink alcohol suffer more. Drinking alcohol is dangerous because alcoholic parents have a high chance of conceiving a child with genetic abnormalities, that is, with chromosome disorders. If the child was lucky enough not to get any genetic abnormalities, then, with a drinking mother, his formation will take place in a very, very adverse conditions. The baby's brain suffers the most from alcohol. A child of alcoholic parents can be born with various disorders in the development of the brain - from mental retardation to severe mental disorders.

Here are some statistics as an example:

With alcohol abuse, toxicosis of pregnant women is detected in 26% of cases; spontaneous abortions - in 29.05%, perinatal death of fetuses - in 12%, miscarriages and premature births - in 22.32%, difficult and pathological births - in 10.5%, birth injuries in 8%, birth of premature babies - in 34.5%, children with manifestations of asphyxia - in 12.5%, debilitated children - in 19% of cases.

The pathology of pregnancy with alcohol abuse was detected in 46.5%, and the pathology of childbirth - in 53.5% of cases. Newborn babies can suffer from alcohol syndrome - when the child is already an alcoholic, due to constant alcohol intoxication during fetal development.

The most terrible malformations and deformities can occur in children whose mothers used drugs during pregnancy. Here, as with alcoholism, the chance of conceiving a child with trisomy is very high. If this did not happen, then under the influence of drugs, various deformities can form in the fetus, often incompatible with life. Very often, children of drug addict parents die shortly after birth, or remain severely disabled for life, do not develop mentally and physically, and have mental disabilities.

Different types of drugs affect the fetus in different ways, but often the consequences of toxic effects are similar. The use of drugs such as cocaine and heroin increases the risk of stillbirth or sudden death newborn. The use of LSD is dangerous for pregnant placental abruption, premature birth, various obstetric bleeding, the occurrence late toxicosis- preeclampsia, and, as a result, preeclampsia. The use of toluene causes signs in the fetus similar to alcohol syndrome, as well as hydrocephalus and microcephaly, intrauterine growth retardation, hyperchloremic metabolic acidosis.

Pathologies of fetal development caused by infectious diseases

A very common problem among pregnant women is the presence of acute or chronic infectious diseases, due to which there is a risk intrauterine infection the fetus, and, as a result, its death, or the occurrence of severe pathologies.

Infectious diseases are divided into genital and extragenital. Extragenital diseases are not associated with the genitals of a woman, they are viral and bacterial infections, very often dangerous for the child. Genital diseases that pose a risk to the development of the fetus are STDs, sexually transmitted diseases.

One of the most common viral diseases that occurs regularly among the population and often carries an epidemic character is the flu. Of course, the disease itself is not fatal, many people carry it to mild form, however, it can pose a threat to pregnancy, especially on early dates. For up to 12 weeks, the fetus is characterized by a feature: all or nothing. That is, if a woman has been ill with the flu before 12 weeks of pregnancy, then it will end either in a miscarriage, or the pregnancy will continue, and the child will be healthy.

If a woman gets the flu in the second or third trimesters, then this can have consequences for the development of the child. Sometimes, after an infectious disease, the fetus develops hydrocephalus, and the flu can also create problems for the placenta to work: it may occur rapid aging placenta, placental vascular pathology, calcification in the placenta, incomplete attachment or true accreta of the placenta. Many of these factors slow down the supply of oxygen to the fetus, which causes chronic hypoxia in the child and, as a result, fetal hypotrophy.

Such are dangerous infectious diseases like: rubella, listeriosis, toxoplasmosis, tuberculosis, cytomegaly, hepatitis, herpes, HIV infection.

Rubella disease in the first 90 days of pregnancy is an almost absolute indication for induced abortion, because the disease, which is not dangerous for the woman herself, carries catastrophic consequences for the fetus, such as deafness, glaucoma, damage to the skeletal system, and blindness.

Extremely dangerous infection- Toxoplasmosis, which is most often transmitted through cats. The earlier the fetus fell ill, the more severe the consequences of the infection. After suffering toxoplasmosis, a child can be born with microcephaly, dropsy of the brain, damage to the eyes and central nervous system, meningoencephalitis. Therefore, all doctors warn that it is highly undesirable to keep cats next to a pregnant woman and small children.

If the mother is ill with hepatitis B, the child may be born with intrauterine hepatitis and malnutrition. At the same time, 40% of children can be cured, and in the future they grow up healthy, and 40% of children die from hepatitis before the age of two.

Cytomegaly is a type of herpes virus. It is known that about 30% of the world's population are carriers of this virus, but few people can know about it, because the disease does not manifest itself at all. However, if a pregnant woman infects her child with it, then he will have multiple pathological changes, such as: blindness, deafness, cirrhosis of the liver, damage to the kidneys and intestines, encephalopathy.
Venereal diseases dangerous to the fetus

We have just looked at viral and bacterial diseases, and now it is necessary to mention STDs. Which of them pose a threat to the life of the fetus? Sexually transmitted diseases are herpes, HIV infection, syphilis, gonorrhea, chlamydia. Of these, the most common is the herpes virus.

A woman who is a carrier of the herpes virus can infect her child in utero. A child born with the herpes virus may have microcephaly, be hypotrophic, this virus causes blindness in children, and sometimes shortening of the arms and legs. Especially dangerous is the herpes virus of group II, which is localized on the genitals of a woman and therefore carries a special danger to the fetus.

A woman with syphilis transmits the disease to her child in utero. Child with congenital syphilis has a whole bunch of health problems: he has a syphilitic rash, while suffering skeletal system, affects the liver, kidneys, central nervous system. Most often, the causative agent of syphilis enters the fetus through the placenta at the 6th or 7th month of pregnancy.

In children born to a mother with gonorrhea, eye damage, conjunctivitis, and generalized infection (sepsis) are observed. The danger of this disease also lies in the fact that it provokes amnionitis or chorioamnionitis, which often leads to intrauterine death of the fetus, and in the mother - to severe infectious complications and inflammation of the uterus after childbirth.

At all times there were certain intrauterine malformations of the child. The seemingly smaller percentage of anomalies in the development of children in the time of our grandmothers is due to the fact that now, thanks to a qualitatively new level of examination and management of pregnant women, it is possible to endure a pregnancy that, without outside intervention, would have been interrupted even at a short time in former times. The main reason spontaneous abortions on short terms just also there are various, genetically caused, anomalies of ugliness. Thus, we can say that at this stage, the first natural selection in the life of an individual is made.

Causes of fetal malformations

There are many reasons for the development of anomalies in children during fetal development. In the first place, of course, are all kinds of genetic defects, both hereditary and acquired as a result of various disorders of embryogenesis. Changes at the genetic level occur under the influence of adverse environmental factors: ionizing radiation, exposure to toxic chemicals, including some medicines. A genetic defect can be passed on to a child from one of the parents, or it can be a “personal acquisition” - a mutation occurs after the combination of high-quality genetic information of a man and a woman. Unfortunately, there is still no way to effectively prevent such situations. Most of the embryos carrying a genetic mutation are not viable and their development stops almost immediately after fertilization, at the very beginning of the formation of the embryo. This situation is called fetal growth arrest and requires a thorough clarification of the causes of its development. In addition to the genetic defects described above, maternal diseases can lead to pregnancy fading: infectious (including sexually transmitted infections), endocrine, and immune system disorders.

What are congenital malformations of the fetus?

The severity of the pathology of fetal development may be different. It also depends on the location of the genetic damage, and on the strength and duration of the toxic effect, if any. It should be noted that a clear relationship between the intensity external influence and the degree of severity of one or another malformation is not traced. A woman exposed to toxic effects during pregnancy can give birth healthy child. However, the risk remains that the fetal malformation will appear in the grandchildren or even great-grandchildren of this woman, as a result of genetic damage that occurred in her child during intrauterine period but had no clinical manifestations.
The most common congenital malformations of the fetus:
- complete or partial absence, deformation of one or another organ or part of the body (limbs, brain, internal organs);
– anatomical defects of the face and neck (cleft upper lip and palate, other anomalies of the facial skeleton);
- spina bifida - cleft of the spinal canal expressed to varying degrees;
- congenital heart defects;
The most common chromosomal anomalies: Down syndrome and Edwards syndrome accompany multiple intrauterine malformations of the fetus.

Diagnosis of fetal malformations

Prenatal diagnosis of fetal malformations and chromosomal pathology is a very complex process. One of the stages of such a diagnosis is the so-called screening studies - a set of examinations that are prescribed to a woman at 12, 20 and 30 weeks of pregnancy. Such a complex includes a blood test for biochemical serum markers of chromosomal pathology (tests for fetal malformations).

In the first trimester ( double test):
– free β-subunit of human chorionic gonadotropin;
– PAPP-A (pregnancy associated plasma protein A): pregnancy-associated plasma protein A.
In the second trimester ( triple test):
- total hCG or free β-subunit of hCG;
– α-fetoprotein (AFP);
- free (unconjugated) estriol.
Depending on the capacity of the laboratory, the final analysis is sometimes not performed. An obligatory addition to such a study is an ultrasound of the uterus and fetus.

The result of each study cannot be evaluated in isolation from other data - that is, the evaluation of the result must be comprehensive and carried out only by a specialist.
Such a survey does not give a 100% guarantee, but only allows you to select a group high risk among pregnant women who need invasive diagnostic methods - chorionbiopsy, cordocentesis to determine the karyotype of the fetus and exclude chromosomal pathology from it.
Chorionic biopsy in the first trimester and placentocentesis or cordocentesis in the second trimester allow with 100% accuracy to exclude or confirm only a chromosomal pathology in the fetus, but not defects! Congenital malformations of the fetus (CM) can only be ruled out by fetal ultrasound and, most often, at 20-22 weeks of gestation. Moreover, ultrasound diagnostic doctors performing fetal ultrasound should have extensive experience in fetal ultrasound and have a specialization in prenatal diagnosis VLOOKUP. Unfortunately, not all doctors of ultrasound diagnostics are well aware of the anatomical features of the fetus, and therefore they miss congenital malformations. For the same reason, signs characteristic of genetic diseases (shape of the skull, features skin folds, characteristic ratios of facial/brain skull sizes, head sizes/body lengths, etc.). Another reason for errors in prenatal diagnosis of congenital malformations is the poor quality of the equipment used for the study. With a low resolution of the ultrasound machine, even a high-class diagnostician can leave “behind the scenes” what is obvious to a medical student, provided High Quality apparatus. As a rule, in the regional centers, large cities there are medical genetic centers, where in without fail, at least once during pregnancy, an examination and consultation of women is carried out.

Pregnant women must be sent for medical genetic counseling:
– over 35 years old;
- having a child with Down syndrome or other genetically determined pathology;
- with cases of miscarriages, stillbirths, non-developing pregnancies;
- if in the family of one of the parents there are patients with Down syndrome and other chromosomal pathology;
- who have had viral diseases at short stages of pregnancy;
- when taking certain medications;
- if there was exposure to radiation.

So, to identify genetic defects in the fetus, it is necessary, first of all, to conduct screening blood tests. This will give a tentative answer about the presence or absence of the child chromosomal abnormalities. After the ultrasound, it becomes clear: there are physical malformations or not. If specialists find it difficult to resolve the issue of genetic defects, chorionbiopsy or cordocentesis is prescribed (depending on the gestational age).
Any case of detection of congenital malformations becomes a reason for offering a woman an abortion for medical reasons. If a woman decides to leave the child, she should be monitored especially closely, preferably by specialists from the medical genetic center.
Malformations of the child, in most cases, significantly limit his ability to live. The causes of fetal malformations must be established to determine the degree of risk in subsequent pregnancies.

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

First of all, you need to know: a child with congenital defects can be born in any family, even among young and healthy parents. The frequency of these cases reaches 5% according to statistics. Identification of the causes of congenital malformations of the fetus (CM) is one of the critical tasks 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 big job already done in this respect.

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

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

Fetal malformations: causes

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

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

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

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

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

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

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

One of the very dangerous factors exposures are 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 correlated with life.

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

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

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

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

What to do if a child has a developmental defect

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

The life of children with fetal malformations largely depends on the timeliness of the measures taken. Today, even the most complex defects are successfully operated on, and often operations are performed in the first days of life. A number of defects allows you to postpone the operation or even undergo conservative treatment. Parents should try to collect 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 the constant supervision of doctors and regularly undergo examinations. There are a number of dietary restrictions and physical activity about which the pediatrician will tell.

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

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

1. hereditary

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

2. Congenital

Congenital anomalies are diseases acquired in the womb due to exposure to 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 developmental anomalies into types is rather arbitrary, because in the vast majority of cases, developmental delays are a combination of hereditary and congenital factors.

Classification of fetal malformations

The most common malformations of intrauterine development of the fetus:

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

It should be noted that the severity of pathologies can be completely different. It depends on the location of the genetic damage, 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 exposed to toxic effects during pregnancy can give birth to a completely healthy baby. At the same time, the risk of developmental delay in the future offspring of this fetus remains, as a result of genetic damage 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 various levels and directions - genetics, embryologists, neonatologists, specialists in prenatal diagnostics.

Understanding the causes of the appearance of congenital malformations, at times, is not so simple. 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, Edwards, 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. Factors that cause CM are called teratogenic.

The most studied teratogenic factors:

  • medication (taking drugs prohibited during pregnancy or in certain period pregnancy);
  • infectious (measles, chicken pox, transmitted from mother to fetus);
  • ionizing radiation (X-ray, radioactive radiation);
  • alcohol factor (taken by a pregnant woman a large number alcohol 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 should avoid contact with aggressive chemical and toxic substances a few months before pregnancy and for its entire period in order to avoid a teratogenic effect in the fetus);
  • lack of vitamins and microelements (lack of folic acid and omega-3 polyunsaturated acids, proteins, iodine, lack of balanced nutrition can lead to a lag in the development of the fetus, disruption of the brain).

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

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. placental barrier And immune system mother. 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 goes through the stage of implantation in the uterus. Next dangerous period- from 3 to 7 and from 9 to 12 weeks of pregnancy, when the placenta is formed. Illness, chemical or radiation exposure to a pregnant woman during these periods can lead to intrauterine malformations of the fetus.

Third critical period pregnancy becomes 18-22 weeks, when the laying of neural connections of the brain occurs and the hematopoietic system begins its work. There is a delay associated with this mental development fetus.

Risk factors for fetal abnormalities

Maternal risk factors for CM:

  • age over 35 years - intrauterine growth retardation, genetic disorders;
  • age up to 16 years - prematurity, lack of vitamins and minerals;
  • short 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, herpetic infections, toxoplasmosis) - congenital malformations, intrauterine growth retardation, pneumonia, encephalopathy;
  • arterial hypertension - intrauterine growth retardation, asphyxia;
  • polyhydramnios - congenital malformations of the central nervous system, pathologies of the gastrointestinal tract and kidneys;
  • thyroid diseases - 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 on the part of the fetus:

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

Anomalies in the development of the placenta:

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

Diagnosis of fetal malformations

Prenatal diagnosis of fetal anomalies and genetic pathologies- the process is very complex. One of the stages of this diagnosis is screening examinations prescribed to a pregnant woman for a period of 10-12, 20-22 and 30-32 weeks (in each of the trimesters). This analysis 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 ultrasound as additional method diagnostics will show if there are deviations 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 separation from each other.

Screening does not guarantee 100% pathology, it only allows you to identify a high-risk group among pregnant women. This is important and necessary measure and, despite the voluntary nature, most expectant mothers understand this. It is not uncommon for specialists to 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 prescribed 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 - diseases of the central nervous system, chromosomal pathologies.

  • placentocentesis (examination of placental particles)

It is performed from 12 to 22 weeks of pregnancy to detect genetic pathologies.

  • (blood sampling from the umbilical cord of the fetus)

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

Pregnant women are sent for a mandatory consultation with a geneticist:

  • whose age exceeds 35 years;
  • having a child or children with genetic disorders;
  • with a history of miscarriages, non-developing pregnancy, stillbirth;
  • in whose family 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.

For the diagnosis of fetal pathologies after birth, 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 fetal malformations implies a proposal to terminate the pregnancy for so-called medical reasons. If a woman refuses this and decides to keep the child, she is taken under special control and monitor pregnancy 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 severely disabled for life, which, of course, is very difficult for any family.

There are other indications for abortion:

  • 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 an active form, in an acute and severe stage,);
  • diseases of the blood and blood-forming organs (hemoglobinopathy, aplastic anemia, leukemia);
  • eye diseases (diseases of the optic nerve and retina);
  • kidney disease ( urolithiasis disease in acute form and with large calculi, acute);
  • diffuse connective tissue diseases;
  • endocrine disorders(, thyrotoxicosis, uncompensated hypothyroidism in severe forms);
  • some gynecological diseases;
  • obstetric indications (unresponsive to therapy and severe, accompanied by severe vomiting, gestational trophoblastic disease, severe hereditary diseases detected 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 measure aimed at preventing the occurrence of congenital malformations of the fetus is pregnancy planning. Not only the success of conception, but also the process of carrying a pregnancy, quick and correct delivery, and the health of the mother and child in the future may depend on high-quality preparation.

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

The key point in the prevention of congenital anomalies of the fetus is the maintenance healthy lifestyle life, rejection bad habits, balanced and good nutrition, exclusion of the impact on your body of any negative and harmful factors. During pregnancy, it is important to treat all possible diseases and follow the instructions of the obstetrician-gynecologist.

Treatment of congenital malformations of the fetus

Methods for the treatment of congenital malformations of the fetus vary considerably depending on the nature and severity of the anomaly. The statistics on this issue, unfortunately, are not encouraging. A quarter of the children congenital anomalies dies within the first year of life.