What are the pathologies of pregnancy? The most common complications of pregnancy are: early and late gestosis, threatened miscarriage, pregnancy with extragenital pathology.

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

Elevated levels of AFP are determined in maternal blood:

• with defects in the fusion of the neural tube - herniation of the spinal cord or brain;
• with defects in the fusion of the anterior abdominal wall, when its muscles and skin do not cover the internal organs, and the intestines and other organs are covered with a thin film of the stretched umbilical cord (gastroschisis);
• for kidney abnormalities;
• with inflammation of the duodenum.

It must be said that an increase in the amount of AFP by 2.5 or more times compared to the average for a given period of pregnancy is significant for diagnosis. For example, with anencephaly (absence of the brain), the level of AFP increases approximately 7 times.

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

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

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

E3. The production of estriol begins in the fetal liver and ends in the placenta. Thus, both the fetus and the placenta take part in the “production” of this substance. The concentration of E3 in the blood serum of a pregnant woman can be used to judge the condition of the fetus. Normally, estriol levels increase throughout pregnancy.

WHEN, TO WHOM AND HOW IS THE TRIPLE TEST CONDUCTED

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

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

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

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

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

Particular concern is caused by a decrease in AFP in combination with a persistent increase in hCG levels. This combination allows one to suspect that the child has Down syndrome. But only in 60% of cases, women carrying a fetus with Down syndrome have abnormal triple test results; in 40% of cases there are no deviations in laboratory parameters.

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

Patients at risk undergo a more detailed diagnosis of fetal malformations and chromosomal pathologies: as part of medical genetic counseling, they are prescribed additional ultrasound examinations and are offered invasive diagnostic methods (with penetration into the amniotic cavity). The most reliable way to make a diagnosis is to study the chromosome set of fetal cells. To obtain fetal cells, the anterior abdominal wall is pierced with a thin needle, and amniotic fluid, which contains fetal cells (amniocentesis) or fetal cord blood (cordocentesis), is removed. When carrying out invasive diagnostic methods, the risk of fetal loss significantly increases; In addition, as with any surgical intervention, there is a risk of infection. Therefore, invasive techniques are contraindicated in cases of threatened miscarriage and acute infectious diseases.

Considering the timing in which it is customary to perform a triple test, sometimes the question arises about the appropriateness of this analysis, because the timing of a medical abortion is limited to the 12th week. In this regard, it should be remembered that every woman who carries a baby under her heart, at one stage or another of pregnancy, is visited by doubts about the usefulness of the unborn child. A triple test will help you dispel unpleasant thoughts, and if changes in markers of genetic pathology of the fetus are detected, you will undergo additional examinations in a timely manner. If unpleasant assumptions are confirmed, it will be possible to terminate the pregnancy or, at least, prepare for the fact that immediately after birth the child may need surgical intervention to correct the detected malformations. At the same time, remember that the doctor has the right to suggest one or another option for managing pregnancy, and the final decision in any case is made by the family.

The presence of ideal tests and the wonderful well-being of the pregnant woman, her young age and an impeccable medical history (information about previous diseases, living conditions, surgery, injuries, chronic pathology, heredity, etc.) are not a 100% guarantee that the child does not have chromosomal abnormalities.

Chromosomal abnormalities of the fetus. Signs

Signs of the presence of a chromosomal abnormality (CA) of the fetus during pregnancy:

• threat or, at least, nagging pain in the lower abdomen from early pregnancy and throughout pregnancy,
• low level of AFP and PAPP-A and increase during pregnancy,
• fetal cervical fold more than 2 mm at term,
• low fetal activity (),
• enlargement of the renal pelvis according to ultrasound during pregnancy,
• delayed growth of tubular bones, starting from,
• early aging of the placenta,
• hypoplasia of the placenta,
• fetal hypoxia,
• poor Doppler measurements and,
• oligohydramnios/polyhydramnios.

Each of these signs individually and even all together can be variants of the norm.

Diagnostics of CA

Of the usual tests, the first screening or double test is the most informative. It must be done strictly on time. It consists of an ultrasound of the fetus (measurement of the neck crease is especially important) and a blood test for AFP, PAPP-A and hCG.

The analysis does not give an exact answer to the question of the presence or absence of CA. Its task is to calculate risks depending on the results, as well as the age and medical history of the pregnant woman. The second, the so-called “triple test”, is not informative for identifying CA. It is possible to find out for sure whether the unborn child has CA only with the help of invasive methods - chorionic villus biopsy, umbilical cord blood sampling, amniotic fluid analysis. The purpose of these tests is to determine the karyotype of the fetus. Accuracy - 98%. The risk of miscarriage is 1-2%. CA cannot be treated. After CA is identified, all that medicine can offer is termination of pregnancy.

Should I do this analysis or not?

When making a decision, you need to answer the following questions:

• Doesn't the risk of miscarriage exceed the risk of having CA in the fetus?
• will you terminate the pregnancy if CA is detected?
• What kind of CA do doctors suspect, what is the prognosis for the child’s health?
• Are you ready for the birth of a child with CA?

Causes of chromosomal abnormalities

There are no clear causes of CA. There is an increased risk if:

• the age of the mother and father exceeds 35 years,
• blood relatives have CA,
• there is a balanced translocation in blood relatives or parents,
• parents work in hazardous industries, the family lives in an environmentally unfavorable area.

Mechanism of occurrence of CA

CA occurs in the fetus at the moment of formation of the zygote, i.e. during the fusion of egg and sperm. The mother and father cells each carry 23 chromosomes (23 from mom and 23 from dad). Both cells may already carry “broken” chromosomes (even if mom and dad are absolutely healthy). A failure can also occur at the moment of fusion of two absolutely healthy parent cells. In this case, the chromosomes of the fetus “diverge” incorrectly. This process has not yet been studied and cannot be controlled.

CA - chromosomal syndromes

More than 300 chromosomal syndromes have been studied and described.

Considering that humans have 23 paired chromosomes and there are several types of aberrations, the number of chromosomal syndromes that are not described in the literature and that arise again is not limited.

Aberrations can be different: complete and partial trisomies, deletions, monosomies, translocation mosaicism, etc. The severity of symptoms in chromosomal syndrome depends on the type of aberration. The most favorable type is a balanced translocation. People with such changes are no different from ordinary people; their peculiarity can only be identified by karyotyping, but they have an increased risk of having children with chromosomal syndromes - from 10 to 50% (the average risk in the population is 5%).

The next least “traumatic” type of aberration is mosaicism, in which a chromosomal disorder does not manifest itself in all cells and/or organs. Partial trisomies and deletions already cause significant developmental defects, sometimes incompatible with life.

The most severe type is complete trisomy or monosomy of the chromosome.

Most pregnancies with chromosomal pathology of the fetus are rejected by the body itself at the earliest stages or at 20-23 weeks, since with chromosomal pathology of the fetus there is a high probability of various pregnancy pathologies (miscarriage, threat of miscarriage, uterine hypertonicity, premature aging of the placenta, toxicosis, gestosis, fetal hypoxia, etc.). Also, many babies do not live to see a year due to multiple developmental defects. The average life expectancy of people with CA is 30 years, but there are described cases of patients with CA who have lived to 60 years or more.

Development of people with CA

People with chromosomal syndromes can be both severely disabled and absolutely full-fledged members of society, who have received a full education and have a regular job. It all depends on the type of aberration, the general condition of the body and the work of relatives and friends. In most cases, people with chromosomal syndromes can take care of themselves, communicate, and do feasible work. Intelligence is reduced, there are chronic diseases of organs and body systems.

Useful links on the topic "Chromosomal abnormalities of the fetus"

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  Unlike non-invasive methods, invasive methods of prenatal diagnosis involve an “invasion” into the uterine cavity in order to obtain biological material. These methods are more dangerous in terms of possible complications and more labor-intensive to carry out, so the doctor prescribes them only for strict indications.
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  When planning a pregnancy, no matter what, you should remember that in general pregnancy should occur against a favorable background. If the previous pregnancy ended unsuccessfully for some reason, it is not at all necessary that the same complications may arise again. However, these failures in history deserve some attention, and the prerequisites for their occurrence should be excluded at the stage of pregnancy planning.
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  Every expectant mother worries about the health of her baby. Is it possible to find out in the early stages of pregnancy whether everything is okay?

The course of pregnancy is often complicated by pathological conditions that can cause complications in the lives of both mother and fetus. The most common complications of pregnancy are fetal underdevelopment, anemia of both mother and fetus, toxicosis of the pregnant woman, ectopic pregnancy, pathological conditions of the placenta, hemolytic disease of the fetus and newborn child.

In most cases, the development of pregnancy pathologies can be prevented by competent constant monitoring of the course of pregnancy and timely assistance if necessary. Therefore, a very important point in monitoring pregnancy is the assessment of perinatal pathology and the risk of pregnancy. Factors complicating the course of pregnancy may be the age of the mother and father, their bad habits and working conditions; number of previous births and; gynecological and other diseases of the pregnant woman and diseases of the fetus in previous pregnancies.

Let's look at some pathological conditions during pregnancy in more detail.

Anemia, or anemia

This is the most common pathological condition of pregnancy. Anemia is caused by insufficient oxygen supply to the fetus. It is because of this that miscarriages and fetal development disorders occur. Anemia also occurs due to insufficient amounts of vitamins and minerals in the body of the expectant mother, especially iron and folic acid. In such cases, a pregnant woman complains of brittle hair and nails, dry skin, cracks in the corners of the mouth and lips. The fetus also experiences difficulties - it develops slowly, and sometimes development simply stops. The nervous system and brain are especially affected.

Fetal underdevelopment

It is usually a consequence of fetal developmental disorders. Its intrauterine development is influenced by a lot - the supply of nutrients, oxygen, deficiency conditions and diseases of the pregnant woman. An example of fetal underdevelopment is cretinism. Cretinism occurs due to a lack of thyroid hormones or iodine. Due to a lack of iodine, fewer hormones are synthesized in the mother's body, as a result of which the development of the fetus stops. The growth of the fetal skeleton can be caused by a lack of calcium.

Ectopic pregnancy

This is the attachment and development of the embryo outside the uterine cavity. This usually occurs in the fallopian tubes, less often in the ovaries, abdominal organs, and very rarely in the cervix. Complications of an ectopic pregnancy usually occur between 4 and 8 weeks of pregnancy. Due to a ruptured pipe, severe pain in the lower abdomen, internal bleeding, severe weakness, dizziness, and pallor appear. In such cases, you should immediately call an ambulance, since such a condition with bleeding when the fallopian tube ruptures can be fatal.

Toxicosis of pregnant women

This is a very common pathology of pregnancy. Usually occurs in the first 20 weeks. There are also late toxicoses that occur in the last 20 weeks. It is believed that toxicosis is a consequence of metabolic disorders in the body of a pregnant woman with the possible involvement of immune and allergic mechanisms. Toxicosis is expressed by nausea and vomiting, increased salivation, as well as skin itching, swelling, and increased blood pressure. It is important to ensure that a prolonged increase in blood pressure does not cause spasm of blood vessels, which has a strong negative effect on the condition of the placenta. Sometimes this leads to termination of pregnancy.

Spontaneous abortion, or miscarriage

The reasons for this phenomenon are varied: intrauterine pathology of the fetus, inflammatory diseases of the pregnant woman, lack of vitamins, hormonal disorders. The process of fetal rejection is characterized by cramping pain in the lower abdomen and bleeding. When the fertilized egg is only partially exfoliated, the pregnancy can be maintained, so it is important to take immediate action at the first signs.

From 13 to 16 weeks of pregnancy, a woman usually undergoes the necessary tests to determine possible pathology of fetal development. And the worst news for a pregnant woman can be a positive test result for developmental pathologies.

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 very initial stages of its formation. There are many 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 chromosome 21, that is, three pairs of chromosomes are present together. Down syndrome is characterized by such signs as: “flat face”, shortened skull, skin fold of the inner corner of the eye, muscle hypotonia, flat bridge of the nose, shortened fingers, congenital heart defect, which occurs in 40% of cases. The correlation between maternal age and the percentage of children born with Down syndrome has been very well studied. After 45 years, the chances of conceiving a child with trisomy 21 are 1 in 14. The age of the father also matters, but it is not nearly as important as the age of the mother.

The most well-known types of trisomies are Edward syndrome and Patau 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 unfavorable environmental conditions

Unfortunately, it also happens that a completely healthy genetically embryo receives some acquired developmental pathologies while still in the womb. This can be facilitated by such unpleasant things as unfavorable environmental conditions, 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 do toxic substances affect the fetus during pregnancy?

The harmful effects of chemicals depend on the dose of the active substance, the intensity of exposure, as well as the duration of pregnancy, during which period the exposure of the mother’s body to chemicals occurs. Depending on the combination of factors characterizing the degree of exposure to chemicals on the mother’s body, a slowdown in fetal development, intrauterine fetal death, and the birth of children with congenital deformities and malformations of vital organs and systems may be observed. In many ways, the degree of exposure to chemicals on the mother’s body and fetus depends on the degree of permeability of the placenta. The most dangerous exposure to harmful factors is in early pregnancy, when the period of implantation, development of the placenta, and the formation of all important organs and systems occurs.

How does radiation affect the development of a child?

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

The effect of radiation on the female body occurs according to the general laws of radiation damage. First of all, three 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 immune status and the presence of a developing fetal egg, the elements of which (placenta, membranes, amniotic fluid, fetus) accumulate individual radionucleides 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, and the ability of the radioisotope to penetrate the placental barrier and accumulate in the fetus. The type of radioisotope, radiation energy, its distribution in organs and tissues, and many other factors are of great importance.

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 negative effects 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 endocrine glands, mainly the thyroid gland.

The effects of radiation on the embryo and fetus are largely determined by the stage of intrauterine development. If such exposure took place in the very first weeks of pregnancy, that is, before 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 for a period of up to 28 weeks in some cases may be accompanied by a teratogenic effect, delayed physical development, placental insufficiency, and an increased risk of developing tumor diseases.

Congenital pathologies due to improper lifestyle

Several other causes of fetal development 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 all important vital organs suffer. Children of smoking mothers are born weak, underdeveloped, often get sick, and lag behind their healthy peers in physical development. During pregnancy, women who smoke have a high risk of miscarriage and stillbirth. There is a high probability of premature birth, vaginal and uterine bleeding, premature placental abruption and placental previa.

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 is lucky enough not to receive any genetic abnormalities, then, with a drinking mother, his formation will take place in very, very unfavorable conditions. The baby's brain suffers the most from alcohol. A child of alcoholic parents may be born with various disorders in brain development - from mental retardation to severe mental disorders.

As an example, here are some statistics:

With alcohol abuse, toxicosis in pregnant women is detected in 26% of cases; spontaneous abortions - in 29.05%, perinatal fetal death - 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%, weakened children - in 19% of cases.

Pathology of pregnancy due to alcohol abuse was identified in 46.5%, and pathology of childbirth - in 53.5% of cases. Newborn children may 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 does not happen, then under the influence of drugs the fetus may develop various deformities, often incompatible with life. Very often, children of drug-addicted parents die soon after birth, or remain severely disabled for the rest of their lives, do not develop mentally and physically, and have mental disabilities.

Different types of drugs have different effects on the fetus, but often the toxic effects are similar. Using drugs such as cocaine and heroin increases the risk of stillbirth or sudden newborn death. The use of LSD is dangerous for a pregnant woman due to premature placental abruption, premature birth, various obstetric hemorrhages, the occurrence of late toxicosis - gestosis, and, as a result, preeclampsia. Consumption of toluene causes signs in the fetus similar to alcohol syndrome, as well as hydrocephalus and microcephaly, intrauterine growth retardation, and 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, which pose a risk of intrauterine infection of the fetus, and, as a consequence, its death or the occurrence of severe pathologies.

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

One of the most common viral diseases that regularly occurs among the population and often has an epidemic character is influenza. Of course, the disease itself is not fatal; many people experience it in a mild form, but it can pose a threat to pregnancy, especially in the early stages. For up to 12 weeks, the fetus has a characteristic feature: all or nothing. That is, if a woman had the flu before 12 weeks of pregnancy, it will either end 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 trimester, this may have consequences for the development of the child. Sometimes, after an infectious disease, the fetus develops hydrocephalus; also, the flu can create problems for the functioning of the placenta: rapid aging of the placenta, pathologies of the placental vessels, calcification in the placenta, incomplete attachment or true placenta accreta may occur. Many of these factors slow down the supply of oxygen to the fetus, causing the child to experience chronic hypoxia and, as a consequence, fetal malnutrition.

Infectious diseases such as rubella, listeriosis, toxoplasmosis, tuberculosis, cytomegaly, hepatitis, herpes, HIV infection are dangerous.

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 with it catastrophic consequences for the fetus, such as deafness, glaucoma, damage to the skeletal system, and blindness.

An extremely dangerous infection is toxoplasmosis, which is most often transmitted through cats. The earlier the fetus gets sick, the more severe the consequences of the infection. After suffering toxoplasmosis, a child may be born with microcephaly, edema of the brain, damage to the eyes and central nervous system, and meningoencephalitis. Therefore, all doctors warn that it is extremely undesirable to keep cats near a pregnant woman and small children.

If the mother has 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 years.

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 may know about this, because the disease does not manifest itself in any way. However, if a pregnant woman infects her child with it, he will experience multiple pathological changes, such as: blindness, deafness, cirrhosis of the liver, damage to the kidneys and intestines, and encephalopathy.
Sexually transmitted diseases dangerous to the fetus

We've just covered viral and bacterial diseases, and now we need 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 herpes virus is especially common.

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 arms and legs. The herpes virus of group II is especially dangerous, which is localized on the woman’s genitals and therefore poses a particular danger to the fetus.

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

Children born from a mother with gonorrhea experience eye damage, conjunctivitis, and also a generalized infection (sepsis). 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.

Tests to detect pathology become a rather serious test for the expectant mother. They are usually carried out from 10 to 16 weeks, that is, in the first trimester. In some cases, doctors are forced to diagnose congenital or genetic abnormalities, due to which termination of pregnancy is recommended. Which is the most dangerous pathology of early pregnancy, How can it affect a child and are there any chances of avoiding it?

Read in this article

Reasons for early screening

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

• bad ecology;
• exposure to toxic chemicals, radiation, medications;
• transmission of abnormalities from parent to fetus (hereditary family diseases) or acquisition of high-quality genetic information of a couple after combining;
• consanguineous marriages;
• women who have had sad experiences with previous pregnancies, including repeated miscarriages, stillbirths, infertility of unknown etiology;
• women under 18 years of age and “old mothers” over 35 years of age;
• infectious diseases of the mother, disorders of the endocrine and immunological systems.

In the presence of these factors, the chances of developing gene mutations in the fetus are much greater. Detection of pathologies in early pregnancy allows you to detect non-viable embryos. This mainly leads to missed abortion or the birth of children with disabilities.

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 being Down syndrome. They can also simply be passed on from generation to generation. For example, if a grandmother was under the influence of toxic substances for a long period of time, it is not a fact that this will affect her child. The results of the toxins may already appear in her grandchildren. Pathology of pregnancy can either completely change the structure of a future person, his physiological abilities, or 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. In addition to external differences, the most important danger for children with such deviations is considered to be heart defects, which occur in 40% of cases. Also, scientists have long established 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 conceives has a Solar Child, that is, a baby with trisomy of the 21st chromosome. As for the father's age, it affects the fetus to a lesser extent.

How Down syndrome manifests itself externally

Edward's syndrome and Patau's syndrome

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

Treacher Collins syndrome

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

Angelman syndrome

Deviation is extremely rare, however, it cannot be excluded either. Manifests itself in developmental delays and epileptic seizures. The most famous child with this genetic disorder was born to actor Colin Farrell.

Since the birth of Sunny 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.

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 completely healthy embryo, under the influence of certain factors, acquires pathological deviations. Mostly at risk are women living near industrial zones with factories, chemical plants, working with chemicals and heavy metals, and in laboratories.

Under the influence of all these factors, the fetus may experience slow development, deformities, and disturbances in the functioning of vital organs. But, worst of all, with prolonged exposure to harmful substances, the fetus can die in the womb. That is why a woman should be extremely careful during 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 improper lifestyle

Smoking, drugs, alcohol are far from the best companions for an expectant 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 bear a healthy child.

The effect of nicotine on the fetus

Under the influence of nicotine, the fetus begins to develop hypoxia (oxygen starvation), which ultimately leads to damage to important vital organs, the meninges and lungs. As statistics show, children are born and grow weaker than their peers, get sick more often and lag behind in physical development. In addition, nicotine significantly increases the risk of stillbirth, miscarriages, bleeding, etc.

The effect of alcohol on the fetus

But it poses the greatest danger to the fetus. Such parents are much more likely to have a child with disabilities and genetic pathologies. The main thing that alcohol affects is the brain. In this regard, the child may later be diagnosed with mental retardation, and in some cases, severe mental disorders.

Statistics are a stubborn thing. According to the latest data, mothers who regularly drink alcohol had spontaneous abortions in 29%, miscarriages and premature births in 22% of cases, children were born premature in 34% of cases, and 26% of pregnant women suffered from toxicosis. In general, pathology during childbearing was identified 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.

Effect of drugs on the fetus

Children of drug addicts are at greatest risk. The birth of a child with genetic abnormalities from a mother who used barbiturates and other drugs that poison the body is very high. But it is worth noting that if 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 it may develop mental disorders, serious illnesses, due to which it will remain disabled for life. With a high degree of probability, children of drug addicts will never catch up with their peers in development.

Moms! Think about it! Is it really possible that imaginary pleasure can forever deprive you of the joy of motherhood, and your baby of a happy and healthy future?

Pathologies developing under the influence of intoxication

Quite often, a child becomes a “spontaneous gift”, before which the parents do not undergo the necessary examinations for the presence of infections. However, the fetus is affectedgenital and extragenital (viral and bacterial, not related to the genital organs) infections. Each of them poses a serious threat to the embryo.

But, no matter how paradoxical it may sound, signs of pregnancy pathology They can also give it to absolutely healthy mothers who have had influenza. Depending on the severity 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 suffering from influenza can be all sorts of pathologies with the placenta, which will ultimately lead to hypoxia andfetal malnutrition.

The following diseases are also considered dangerous:

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

Each of the diseases poses 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. If the child is kept, there is a high risk of developing deafness, glaucoma, and bone damage.

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

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

This is why it’s worth getting tested when planning a pregnancy. , to minimize the risk of congenital anomalies and loss of the child.

Diagnosis of fetal pathology development

Determining congenital and acquired fetal pathologies is a complex process. P first blood screening The pregnant woman will be prescribed at 12 weeks, then repeated examinations will be carried out at 20 and 30 weeks. The mother will be tested for developmental defects. In this case, the examination will be carried out on absolutely everyone, regardless of whether the woman is at risk or not. The most popular screening test is the alpha-fetoprotein test.. It is recommended to be carried out before the 12th week of pregnancy, the optimal period is 10-11 weeks. The reliability of the results reaches 95%. A mandatory addition is Ultrasound for pathology of the fetus and uterus.

Chorionic villus biopsy

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

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

Amniocentesis

An analogue of Charion biopsy, only in this case amniotic fluid is taken. It is believed that it is safer, although in fact the risks are approximately the same: the probability of adverse reactions after the procedure is 0.5% -1%. But one of the disadvantages is that it is carried out only from the 15th week after conception.

The results of both the first and second analyzes will be received 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 only be carried out if the specialist is experienced specifically in issuesprenatal diagnosis of congenital malformation, as well as from 20 weeks after conception. It is not recommended to save money by turning to cheaper diagnostic centers. It is likely that they are using outdated equipment, with which it is impossible to detect pathology.

Unfortunately, medical indications for termination of pregnancy (congenital and acquired during the development of pathologies) can usually be disputed. If a mother decides to give birth even despite doctors’ warnings about possible anomalies and threats to the child’s life, then her pregnancy will be under vigilant monitoring throughout the entire period. If she conceives again, the woman will automatically be placed in a risk group and will be forced to take all tests to determine pathologies.