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Pathologies of fetal development, which are detected in the early stages. Pathologies of pregnancy: features of common pathological conditions

Sadly, but, according to medical statistics, about 5% of healthy parents are in danger of giving birth to children with mental or physical developmental disorders. Is it possible to find out about fetal pathologies in advance? Is the diagnosis of “fetal pathology” always a sentence for an unborn baby?

At what time of pregnancy can you find out about the pathology of the fetus?

Screening blood tests are carried out:

  • at 11-13 weeks - "Double test". It analyzes 2 blood protein indicators, which can be used to judge the risk of a child developing chromosomal disorders such as Down syndrome and Edwards syndrome.
  • at 14-15 weeks - "Triple test". He, in addition to the above-mentioned syndromes, can predict the presence of neural tube defects.

When calculating the risk of pathologies, it is MANDATORY to take into account: multiple pregnancy, IVF, woman's weight, diabetes mellitus, the presence of colds at the time of the test, smoking. All of these factors can greatly inflate risk scores.

Screening studies only determine the PROBABILITY of the appearance of chromosomal disorders! With positive indicators, an additional examination is necessary: ​​ultrasound, chorionic biopsy, amiocentesis, cordocentesis.

Ultrasound at 11-14 weeks of gestation can reveal obvious developmental pathologies and some changes that indicate fetal chromosomal abnormalities.

Ultrasound at 20-22 weeks diagnoses malformations of internal organs.

Attention! If the ultrasound showed the presence of deviations, it is necessary to double-check the diagnosis with 2-3 doctors in order to avoid mistakes!

Chorionic biopsy- analysis of placental cells. It is carried out at 8-12 weeks. Amniocentesis - cytogenetic analysis of amniotic fluid. It is carried out at 16-24 weeks. The safest of invasive research methods. The risk of complications after it does not exceed 1%. Cordocentesis - puncture of the umbilical cord of the fetus. It is carried out at 22-25 weeks.

If a child with a pathology

Doctors recommend having an abortion or inducing premature birth only if the pathology of the fetus is incompatible with life. Most pathologies do not require termination of pregnancy. The level of modern medicine allows you to "correct" many malformations after the baby is born.

If you find out that a child has a pathology that is compatible with life, try to collect as much information as possible about the nature of the violations and about which medical institutions can help you. For example, it is now possible to quickly eliminate even complex congenital heart defects within a few days after the birth of a child. After the operation, babies grow and develop in the same way as their healthy peers. Some of the physical disorders may go away on their own as the child grows, some require treatment or surgery. So there is always hope!

Congenital malformations of the fetus occupy the 2nd-3rd place in the structure of perinatal mortality. A person can feel the consequences of these vices all his life, being an invalid. There are malformations that are incompatible with life, there are easily corrected malformations, there are malformations with which you can survive, but feel your defect all your life.

For timely detection, it is necessary to identify risk factors: the birth of a child with malformations in the past, hereditary factors, harmful occupational exposure during pregnancy, maternal illness, the presence of infection, medication, the presence of habitual miscarriage, deviations in genetic studies, etc.

Malformations are detected with ultrasound research methods, the first of which is prescribed no later than 17 weeks of pregnancy.
In women with risk factors, such a study is carried out especially carefully. If a malformation is detected, termination of pregnancy for medical reasons is recommended.

Fetal hydrocephalus:

Hydrocephalus occurs in 3-8 out of 10 thousand newborns. Often combined with other types of vices. When detected in the early stages, termination of pregnancy is indicated. At full-term pregnancy, childbirth is carried out as usual, to prevent injury to the perineum, a perineal dissection is performed. With antenatal death of the fetus, a craniotomy (fruit-destroying operation) is performed. In 50% of cases, the outcome for the fetus is unfavorable. The mother may experience traumatic complications, labor anomalies, postpartum hemorrhage, postpartum subinvolution of the uterus.

Microcephaly:

With microcephaly, a decrease in the volume of the head is observed, in children with this, a decrease in mental development is often observed.
With a pronounced decrease, especially when combined with another pathology, termination of pregnancy is indicated. A slight decrease in the absence of other developmental factors can be interpreted as an individual feature of development.

Fetal anencephaly:

Anencephaly is characterized by the absence of the cerebral hemispheres and most of the cranial vault; there may be a partial violation of the development of the midbrain and diencephalon. There is bulging eyes and a short neck. More common in females. It may be due to genetic pathology, due to the action of occupational hazards (radiation, chemical hazards), in drug addicts, substance abusers, and diabetes. Often combined with other types of malformations.

Prenatal diagnosis using ultrasound. May be suspected on external obstetric examination (small and oddly shaped head).
During vaginal examination, the absence of the cranial vault is noteworthy, the bones of the base of the skull and pulsating subcortical formations are palpated. The fetus can remain alive until delivery, but dies very quickly after birth. With antenatal diagnosis, early delivery is indicated.

Spinal canal failure:

Non-closure of the spinal canal (spina bifida) may be accompanied by hernial protrusion and outflow of CSF. Non-closure of the spinal canal is one of the most common types of CNS pathology. It is more common in Europe than in Asia. The cause of the disease is a genetic pathology. However, this pathology can be when a pregnant woman is exposed to hypnotic drugs, often it occurs with diabetes. May be associated with malformations, especially with other CNS malformations and foot pathology.

Prenatal diagnosis is carried out using an ultrasound examination. The frequency of stillbirths is 25%, of those born alive, about half survive. The prognosis for the fetus depends on the severity and on the level relative to the spine. In 25% of newborns, complete paralysis is manifested, the rest also have complications, and rehabilitation of varying degrees of intensity is required. Therefore, if this pathology is detected during pregnancy, termination of pregnancy is recommended.

In the case of the birth of a child with this pathology, it is necessary, if possible, to exclude traumatization, infection of the formation, and organize an examination by a pediatrician. There are observations that taking folic acid during pregnancy can reduce the risk of this pathology.

Malformations of the kidneys and urinary tract:

The most common type of pathology is polycystic kidney disease. A bilateral process can lead to the death of a child and is an indication for termination of pregnancy if a malformation is detected. With a unilateral process, the question of termination of pregnancy is not categorical. With hydronephrosis, the issue of termination of pregnancy is decided depending on the severity, in the absence of other defects in the case of a unilateral process, the pregnancy can be continued. Currently, a technique has been developed for fetal kidney puncture to pump out excess fluid in order to preserve function.

Congenital heart defects in children:

The prognosis depends on the severity of the defect and the possibility of postpartum rehabilitation. Anomalies of the walls of the abdominal cavity and malformations of the gastrointestinal tract. Diaphragmatic hernia, in which the abdominal organs usually move into the chest, is often combined with other types of pathology, the percentage of stillbirths and neonatal deaths is high. If detected, termination of pregnancy in the first half is indicated.

Anomalies of facial structures and neck:

The most typical types of pathology are cleft lip and palate. Cleft lip (previously known as cleft lip) is a common defect, and prenatal ultrasound diagnosis of such a defect is difficult. In the development of such an anomaly, hereditary factors and bad habits are of great importance, however, it has been noticed that when taking folic acid during pregnancy, the risk of an anomaly is reduced.

The prognosis is favorable, surgical cosmetic techniques allow for correction. True, these operations are done a few months after birth. There may be problems with breastfeeding. More serious is the combination of cleft lip and cleft palate. In this case, there are more often combinations with other defects, and the correction of the defect is more difficult. The nasal voice may remain. Great difficulty in feeding the child.

Limb anomalies:

The most common defects are an increase in the number of fingers (polydactelia), fusion of fingers and a decrease in their number (syndactelia), there may be shortening of the limbs (pyromelia), the absence of limbs (amelia) or part of the limbs (hemimelia), fusion of the lower limbs into one ("siren"), etc.

Malformations of the reproductive system:

They are rarely diagnosed in the prenatal period, can be detected in the neonatal period, and in girls sometimes already in puberty and even later. Genetic diseases are sometimes detected during pregnancy with the help of special studies. Persons from the risk group (heredity, age, hazardous profession) need to be examined at genetic centers.

Hemolytic disease of the fetus:

This disease occurs due to the incompatibility of the blood of the mother and fetus. Most often this occurs due to Rh incompatibility in the presence of Rh-negative blood in the mother, and Rh-positive blood in the child. This is likely in the presence of Rh-positive blood in the father of the child. The more pregnancies a woman had, the more likely the complication. Less commonly, hemolytic changes may develop due to ABO blood type incompatibility.

There are the following forms of fetal hemolytic disease: anemic, edematous and hemolytic.
Prevention. Prevention of abortions and miscarriages, the use of contraception, the use of a special serum on the first day after childbirth. Treatment. During pregnancy, the antibody titer is determined if Rh-positive blood is detected in the husband. If an antibody titer is detected, hospitalization, treatment and early delivery in a specialized maternity hospital are carried out. In recent years, the technique of intrauterine examination and treatment of the fetus with the help of amniocentesis and cordocentesis has been used.

Fetal macrosomia:

Macrosomia is called an increase in fetal weight more than the standard norm for a given gestational age. Individual fluctuations are acceptable, it is necessary to take into account individual characteristics, genetic influence.

With a full-term pregnancy, a fetus weighing more than 4000 g is called large, and with a mass of more than 5000 g - giant. Macrosomia occurs most often with diabetes, with the edematous form of hemolytic disease of the fetus, and also if the pregnant woman abuses carbohydrate and fatty foods. It is revealed by external obstetric techniques (measurement in the dynamics of the fundus and the circumference of the fetus), with ultrasound and finally when weighing the newborn.

With a large fetus, childbirth is possible through the birth canal in the case of a normal and even wider pelvis. But with a giant fetus and a large fetus with a narrow pelvis, a caesarean section should be planned. Possible complications: clinical inconsistency, birth trauma of the mother and fetus, decrease in the contractile function of the uterus due to its overstretching during and after childbirth, weakness of labor, bleeding, subinvolution of the uterus, as well as complications associated with impaired carbohydrate metabolism.

Pregnancy is a period of increased stress on the female body. Not everyone approaches this consciously and engages in planning and preparation. The state of health before conception affects further gestation. Various disorders can cause pathologies of pregnancy and disrupt its normal course.

The expectant mother is responsible for her condition and the health of the child. Abnormalities in the mother's body can affect the development of the fetus, the formation of the placenta and the maintenance of pregnancy progression.

The reasons why a pathological pregnancy develops can be conditionally divided into several groups:

  • Diseases of the internal organs that were before conception.
  • Acute somatic and infectious diseases that develop during childbearing.
  • Bad habits of the expectant mother.
  • The use of certain drugs.
  • genetic predisposition.
  • Influence of the environment, harmful working conditions.

Often there is a combination of several factors. But it is not always possible to say exactly what led to the development of pathologies.

Main symptoms

It is sometimes difficult to suspect the development of pathology during pregnancy. Bearing a child is accompanied by hormonal changes, changes in the functioning of all systems. Therefore, physiological processes occurring in the body of a pregnant woman are often taken as a violation.

In order not to miss pathological symptoms during pregnancy, you need to listen to your body and inform your doctor about any changes. And he will decide how serious it is.

Symptoms of pathology during pregnancy may be a change in the nature of the discharge:

  • the appearance of an unpleasant odor;
  • bloody at any stage of pregnancy;
  • liquid and transparent in the third trimester;
  • impurities of yellow pus;
  • white discharge resembling cottage cheese.

A change in well-being is also associated with the pathology of pregnancy. Slight dizziness, especially when changing body position, nausea can bother a young mother. But the constant feeling of rotation of objects, the instability of gait, the flickering of flies before the eyes, the headache is a sign of impaired blood circulation in the brain.

Pregnant women often experience pain of various localization. It appears after a long walk in the lower back and legs, after a long standing. In the later stages, cramping pain in the lower abdomen indicates that the uterus is gradually preparing for. You should immediately consult a doctor if you experience acute pain in the abdomen, regardless of the duration. Its combination with tachycardia, cold sweat, dizziness and is especially dangerous.

An alarming symptom is, especially hidden ones, which are accompanied by a sharp increase in excess weight. At the end of the day, in the last stages, the legs may swell, after rest this condition should pass. If swelling persists after a night's sleep, be sure to inform your doctor.

An alarming sign of a pathological pregnancy is a change in the activity of the fetus. If the child freezes or, conversely, pushes too actively, then this is evidence of his intrauterine suffering.

How long does it take for the risks to increase?

During the development of the fetus, there are periods of time that are critical. Exposure to pathogenic factors can lead to the death of the embryo, disruption of the formation of internal organs. The first such critical period is considered to be the first 2 weeks of development. If there is damage to the embryo, then in most cases it dies, spontaneous abortion occurs.

The second critical period is from 4 to 12 weeks of development. This is the period of time in which the internal organs are formed. The impact of pathological factors leads to severe defects.

The third critical period lasts from 12 weeks until the moment of birth. The main organs continue to mature, their fine differentiation occurs. The development of the brain, teeth, genitals and lungs is not completed. They can develop gross defects. The remaining organs are subject to secondary malformations under the influence of inflammatory reactions.

Common pathologies of pregnancy

If a woman plans to conceive, then a few months before the expected date, it is recommended to undergo an examination and treat infectious and somatic diseases, to achieve a stable remission of chronic diseases. This will reduce the chances of various complications.

Toxicosis and gestosis

The first trimester of pregnancy is characterized by development. This condition is manifested by nausea of ​​varying intensity and vomiting. With a mild degree, attacks appear in the morning, on an empty stomach. Vomiting may be several times during the day.

A severe degree of toxicosis violates the general condition of the pregnant woman, tachycardia, a drop in blood pressure are observed. Vomiting can be up to 10-15 times a day. Some develop yellowness of the sclera of the eyes, a decrease in urine output and stool retention. Such women should be treated in a hospital.

Incorrect presentation of the fetus

In the first and second trimester, the position of the fetus does not matter. By the time of birth, he should take the occipital presentation - this means that the child lies head down, and the back of the head is the point that will move forward during childbirth. A change in the position of the fetus leads to a violation of the biomechanism of childbirth.

Sometimes, by the time of birth, the child remains in. This means that the legs and buttocks will move first along the birth canal. Such childbirth can last longer, because normally the head pushes the tissues wide apart, and the back of the body can pass unhindered.

The most severe pathological postures are the extensor head, in which the child throws his head back, the chin is born first. The transverse position is corrected by turning the fetus on the leg before delivery.

placenta previa

Normally, the placenta is attached to the wall of the uterus in its back, front or bottom. They say about her presentation when the fetal place is located in the lower part of the uterus and covers the internal pharynx. This arrangement makes it impossible for the process of childbirth in a natural way: when the cervix opens in the first stage of labor due to tissue tension, the placenta will begin to separate from the walls, massive bleeding will begin, which will end with detachment and death of the fetus.

Throughout pregnancy, it threatens to bleed even at the time of examination on the gynecological chair. Therefore, women with a diagnosed pathology require increased attention and hospitalization for spotting spotting from the genital tract.

The cause of improper attachment of the placenta can be anomalies in the structure of the uterus, the presence of myomatous nodes, endometritis. Sometimes the cause of the pathology remains unknown. Delivery with complete placenta previa is possible only by.

Eclampsia

Preeclampsia with a severe course can go into an extreme state -. Pathology can develop during pregnancy, childbirth and in the early postpartum period.

The symptoms of severe preeclampsia are accompanied by convulsions, the duration of seizures is 1-2 minutes. After that, consciousness is restored, but the woman does not remember anything, feels extremely tired, complains of a headache. Another option for getting out of an attack can be a coma.

A poor prognosis is associated with the following conditions:

  • swelling of the brain;
  • hemorrhage in brain structures;
  • a sharp increase in temperature;
  • tachycardia;
  • yellowness of the skin;
  • uncoordinated movements of the eyeballs;
  • decrease in urine output.

Treatment is carried out together with resuscitators in the intensive care unit. Its main areas are relief and prevention of seizures, restoration of the function of vital internal organs. Within 2-3 hours, early delivery by caesarean section is carried out: eclampsia is a pathology caused by pregnancy, so childbirth is the only true etiological treatment.

Uterine hypertonicity

A high level of progesterone in a pregnant woman prevents an increase in uterine tone. Muscle contraction at any time can lead to spontaneous miscarriage. Dangerous in the early stages, it is accompanied by vasospasm, and the child receives less oxygenated blood and nutrients. This leads to intrauterine growth retardation.

In the later stages, it is important not to confuse hypertonicity with training contractions. The pathology is characterized by the following symptoms:

  • pain in the lower abdomen, feeling of tension;
  • change in the shape of the abdomen;
  • the uterus becomes very hard to the touch.

Extragenital pathology

What are the pathologies that can affect the course of pregnancy? Any disease of the internal organs can lead to the formation of complications:

  • diseases of the digestive tract disrupt the absorption of iron, which causes anemia;
  • arterial hypertension before pregnancy aggravates its degree, can lead to preeclampsia, kidney disease;
  • the course of diabetes mellitus worsens, it can also push to the development of preeclampsia, congenital diabetes in a child;
  • hypothyroidism disrupts the normal progression of pregnancy, creates a threat of interruption.

Infectious diseases, regardless of localization, can lead to intrauterine infection of the fetus. Both acute diseases (ARVI, pneumonia, diseases of the genitourinary system) and chronic ones (bronchitis, caries, cystitis, sinusitis, etc.) matter. Infection with rubella, toxoplasmosis, cytomegalovirus in the first trimester of pregnancy leads to severe malformations, often incompatible with life.

Fetal pathologies

The condition of the child directly depends on the course of pregnancy and the health of the mother. It is not always possible to prevent the development of pathological conditions. Congenital anomalies, genetic disorders cannot be corrected, they are often inherited. Some congenital syndromes are the result of maternal aging and exposure to adverse factors. For example, with age, the risk of having a child with.

Sometimes future parents are carriers of the recessive (sleeping) congenital syndrome gene. When two recessive traits are combined in one child, clinical signs of hereditary pathology appear.

Some malformations require surgical treatment in the first few days after birth. For example, atresia, or infection of the anus, an incomplete esophagus that does not connect to the stomach, a violation of the formation of the urethra.

Non-closure of the upper lip and cleft palate are operated on some time after childbirth in several stages.

It is in the power of the expectant mother to prevent the development of intrauterine infection in the child. To do this, you need to avoid infection yourself and treat existing diseases in a timely manner.

Prevention

It is possible to prevent the development of pathology during pregnancy if you plan its onset. Spouses can be tested for infections, if they are found, they can be treated.

Many chronic diseases have not been a contraindication for pregnancy for a long time. But they need to be controlled, to lead a lifestyle that will not allow diseases to worsen.

Prevention of pathologies during gestation is facilitated by a healthy lifestyle and proper nutrition of a pregnant woman. You can not torture yourself with diets during this period of life. The diet should be balanced, contain enough vitamins, minerals and nutrients.

It is not in vain that pregnant women undergo a multi-stage examination when registering. This is a way to determine the initial level of health in order to anticipate the possibility of the formation of pathologies. After such an examination, and also taking into account the presence and course of previous pregnancies, the woman's lifestyle, the doctor can set a risk group for the development of complications. This is necessary for the timely prevention of the progression of adverse conditions.

Useful video about uterine tone during pregnancy

Answers

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

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

Congenital malformations include malformations of the nervous system - anencephaly (absence of the brain), spina bifida (open hernia of the spinal cord), malformations of the cardiovascular system (heart defects, etc.), malformations of the limbs - atresia (absence), maxillofacial deformities - cleft lip, cleft palate and much more.

Causes of fetal CM

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

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

Pediatricians believe that, in addition to congenital malformations, newborn diseases such as iron deficiency anemia, rickets, or developmental delays are often associated with the fact that the expectant mother did not have enough vitamins and minerals during pregnancy.

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

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

Key Factor: Folic Acid

The main role in the prevention of prevention of the occurrence of congenital malformations in the fetus is folic acid. It is necessary for cell division, growth and development of all organs and tissues, normal development of the embryo, and hematopoiesis processes. Folic acid prevents the likelihood of preterm labor and rupture of the amniotic membrane.

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

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

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

Vitamins for life

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

Modern studies, regularly conducted in recent years by the Russian Academy of Medical Sciences, have shown that the diet of a modern woman, composed of natural products, quite adequate to our energy costs and even excessive in calories, is unable to provide the body with the necessary amount of vitamins during pregnancy and feeding.

More information can be found on the website elevite.ru

*A.E.Czeizel Use of a multivitamin containing folic acid during conception. Europ. J. Obstetr. Gynecol. Reproductive Biology, 1998, 151-161.

And congenital non-hereditary.

Congenital hereditary developmental anomalies

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

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

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

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

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

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

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

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

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

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

Down syndrome

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

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

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

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

Edwards syndrome

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

Klinefelter syndrome

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

Hemophilia

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

cystic fibrosis

This is the most common hereditary systemic disease.

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

Phenylketonuria

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

color blindness

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

"Hare Lip"

This developmental anomaly consists in the cleft of the upper lip, which prevents the baby from sucking. Treatment - surgical, in the first months of a child's life. This deformity can be provoked by a lack of food in a pregnant woman.

"Cleft palate"

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

Polydactyly

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

Anencephaly, microcephaly, hypercephaly and hydrocephalus

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

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

Fusion of twins (so-called Siamese twins)

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

Umbilical and spinal hernias

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

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

Malformations of the heart and blood vessels

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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