At what time are deviations in the fetus visible. Defects of the chest organs. Congenital hereditary developmental anomalies

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 birth defects development always stuns the family, this topic is one of the most difficult.

The statistics are frightening, against the backdrop of declining child mortality, an increase in the number birth defects development 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 nervous system- anencephaly (absence of the brain), spina bifida (open hernia of the spinal cord), malformations cordially- vascular system(heart defects, etc.), limb defects - 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 delay are often associated with the fact that the expectant mother did not have enough vitamins and minerals during pregnancy.

Other violations can make themselves felt much later - already in kindergarten and school: these are diseases 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 physical and mental development child. This greatly increases the risk of having children with various developmental disabilities and low body weight.

Key Factor: Folic Acid

The leading role in the prevention of the 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 occurrence of premature birth 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 events 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 medical professionals and for women themselves, ways to prevent fetal malformations and the stimulating part - compensation for 70-80% of the cost of multivitamin preparations containing folic acid.

Vitamins for life

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

Modern research, regularly conducted in last years RAMS showed that the diet modern woman, made up of natural products, quite adequate to our energy consumption and even excess in calories, is not able to provide the body necessary quantity vitamins during pregnancy and lactation.

More detailed information you can find on the site elevite.ru

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

Ultrasound of the fetus for the detection of genetic pathologies is the identification of trisomies (an additional third chromosome in the genetic set of the fetus), leading to the birth of a baby with serious hereditary diseases and physical deformities. It is possible to detect fetal defects on ultrasound already in the early stages of pregnancy.

Doctor's consultation based on the results of tests or ultrasound - 500 rubles. (at the request of the patient)

Why do you need to do an ultrasound to detect fetal malformations

There are 5-7 babies per 1000 newborns with anomalies of sex (hereditary) or somatic (non-hereditary) cells. Most often, an embryo with a chromosomal disorder dies in the early stages of pregnancy, when a woman has . With the help of ultrasound, you can see various anomalies and pathologies, so an ultrasound examination to detect malformations is mandatory for every pregnant woman.

When and why fetal genetic pathologies occur: risks by age

Anomalies in the development of the fetus are laid already at the time of fertilization of the egg by the sperm. For example, such a pathology as triploidy (the presence of three chromosomes in a row of a chain, and not two, as expected), occurs when two sperm enter the egg, each of which leaves one chromosome. Naturally, with such a set, a living organism cannot survive, therefore, at a certain stage, a miscarriage occurs or .

Spontaneous miscarriages occur in 50% of abnormal fertilizations. Thus nature protects humanity from complete degeneration.

In general, chromosomal pathologies are divided into 4 groups:

1. Gametopathy.Pathology exists even before conception in the sperm or egg itself, i.e. This genetic disease is a congenital pathology.
2. blastopathy. Anomalies occur in the first week of zygote development.
3. Embryopathy. The embryo receives damage in the period from 14 to 75 days after conception.
4. Fetopathy. It consists in the formation of the pathology of fetal development starting from the 75th day after fertilization.

No one is immune from the birth of a baby with genetic abnormalities. Previously, mothers over 35 years of age, diabetics, women with chronic diseases (kidney failure, problems with the thyroid gland), then today sick children are born to young mothers aged 20 to 30 years.

Statistical data leads to dark thoughts. So, the risk of having a baby with chromosomal abnormalities in 20-year-old women is 1:1667, and in 35-year-olds already 1:192. But in reality, this means that in 99.5% of cases, a child of a thirty-five-year-old mother will be born healthy.

What genetic diseases of the fetus can be seen on ultrasound, when to undergo

It cannot be said that ultrasound shows 100% of all deviations, but with a high degree of probability a woman will know about the health status of her unborn baby. During the entire pregnancy, a woman undergoes at least three ultrasound examinations: in 1, 2 and 3 semesters. They are called .

In semester 1, for a period of 10 to 14 weeks (up to week 10, ultrasound is not informative), a pregnant woman undergoes a study called screening. It consists of a biochemical blood test and an ultrasound examination of the embryo. The result of screening is the identification of the following pathologies:

• down syndrome
• patau syndrome
• Edwards syndrome
• Shereshevsky-Turner syndrome
• Carnelia de Lange syndrome
• Smith-Lemli-Opitz syndrome
• Prader-Willi syndrome
• Angelman's syndrome
• Langer-Gideon syndrome
• Miller-Dicker syndrome
• DiGeorge anomaly
• Williams syndrome
• Wilms tumor
• triploidy (when there are not 46 chromosomes in each pair, but 69, i.e. three, not two)
• neural tube defect

At 20-24 weeks, another ultrasound is done. Among the genetic diseases of the fetus, visible on ultrasound in the 2nd semester, one can note:

• anencephaly (absence of the brain, diagnostic accuracy 100%)
• abdominal wall pathology (86%)
• pathology of limb development (90%)
• herniated spinal cord (87%)
• pathology of development or absence of kidneys (85%)
• the presence of a hole in the diaphragm that separates abdominal cavity and chest (85%)
• (100%)
• heart anomalies (48%)

At the 3rd semester, dopplerometry is performed - an ultrasound study with the definition of the vascular system of the fetus, placenta and mother. Starting from the 23rd week of pregnancy, the umbilical artery, uterine artery and middle cerebral artery. Systolic (when the heart muscle contracts) and diastolic (when the heart muscle relaxes) blood flow is examined. In a baby with chromosomal disorders, the blood flow is atypical.

Also in the 3rd semester they must do - measurement of dimensions in order to detect developmental anomalies.

Types of ultrasound studies

Ultrasound diagnostics presents wide range research. There are several types of ultrasound, which with the utmost accuracy determine the intrauterine malformations of the baby.

Standard ultrasound. It is usually combined with biochemical analysis blood. It is carried out no earlier than 10 weeks of pregnancy. First of all, the thickness of the collar zone is revealed in the fetus, which should not exceed 3 mm, as well as the visualization of the nasal bone. In a child with Down syndrome collar zone thicker than normal, and the nasal bones are not developed. Also, the thickness increase is affected by the following factors:

• heart disease
• stasis of blood in the neck veins
• violation of lymphatic drainage
• anemia
• intrauterine infections

Doppler - ethat unusual ultrasound study that evaluates the blood flow of the fetus. The difference between the sent and reflected signal indicates the norm or pathology of the “fetus-placenta-mother” chain.

1. allows you to see a color image of the baby, to see the limbs, the absence of fused fingers, underdeveloped feet etc. The accuracy of diagnosing the collar space increases by 30%. The doctor can tell for sure if there are pathologies in the development of the neural tube.
2. according to the principle of operation does not differ from more simple options but it has a lot of advantages. The doctor sees a three-dimensional image of the heart, a view of the fetus from different angles. It is 4D diagnostics that finally dots the “i”, whether there are chromosomal anomalies or none. With 100% Accuracy it can be stated whether there are malformations of the nervous system, skeletal dysplasia, cleft lip or cleft palate.

What does an ultrasound scan of common fetal pathologies look like: photo and interpretation of ultrasound results

Genetic pathologies can be both specific (Down's syndrome, Wilms' tumor) and general, when the internal organ develops incorrectly. To identify common anomalies, there is an anatomical study of the fetus. It is carried out in the 2nd semester starting from the 20th week of pregnancy. During this period, you can see the baby's face and determine its gender.

With an anatomical ultrasound, all organs of the fetus are displayed in section, and in the picture the bones will have White color, and soft tissues various shades gray. The specialist can clearly see the structure of the brain, he is also able to see anomalies in development. The splitting of the upper palate becomes noticeable, called cleft lip.

Longitudinal and transverse projection of the spine confirms or refutes the correct location of the bones, you can verify the integrity of the abdominal wall. The absence of heart pathologies is confirmed by the same sizes of the atria and ventricles. The normal functioning of the stomach is indicated by its fullness with amniotic fluid. The kidneys should be located in their place, and urine from them should flow freely into bladder. The doctor clearly sees the limbs of the fetus, except for the toes.

Genetic pathologies of the fetus: how they look on ultrasound and the prognosis of the pathology

Causes of fetal pathologies: what affects the birth of children with genetic abnormalities

A factor contributing to the birth of children with genetic abnormalities, relate:

1. genetic predisposition. Genes are information passed down from both parents. Indicators such as height, eye and hair color are determined. Similarly, various deviations are laid, if both or one of the parents has a damaged gene. That is why it is forbidden for close relatives to marry. After all, then the likelihood of bearing a fetus with a genetic pathology increases. With a partner who has the opposite genetic set, there are more chances to give birth to a healthy baby.
2. Age of parents. The risk group includes mothers over 35 and fathers over 40. With age, immunity decreases, chronic diseases occur, and the woman’s immune system simply “does not notice” genetically damaged sperm. Conception will occur, and if a young woman’s body itself rejects an inferior fetus, an older mother pregnancy will be more peaceful.
3. Mom's bad habits. Almost 90% abnormal pregnancies passes with oligohydramnios. In a woman who smokes, the fetus suffers from hypoxia, decomposition products of aldehydes (alcohols) in the early stages of pregnancy lead to mutations and abnormalities. In alcoholics, in 46% of cases, children are born with genetic pathologies. Alcohols also “break” the genetic chains in fathers who like to drink.
4. infections. Especially dangerous are diseases such as influenza, rubella, chickenpox. The most vulnerable fetus is until the 18th week, until it is formed amniotic sac. In some cases, the woman is asked to .
5. Reception medicines. Even ordinary chamomile tea for a pregnant woman is toxic. Any medication should be accompanied by a doctor's advice.
6. Emotional turmoil. They cause the death of nerve cells, which invariably affects the development of the fetus.
7. Bad ecology and climate change. Having become pregnant during a holiday in Thailand, it is possible to bring along with pregnancy dangerous infection, which in their native lands will begin to develop slowly, affecting the health of the baby.

How to prevent fetal malformations and where to do a fetal ultrasound in St. Petersburg

You can prevent most problems with bearing and fetal pathologies by planning a pregnancy in advance. both partners undergo tests that clearly show the likelihood of genetic abnormalities. A range of tests are also carried out for infections that can cause deformities in the baby ( ) and other studies.

We invite you to undergo an ultrasound on fetal pathology in St. Petersburg at. We have installed latest ultrasound doppler device. The examination is carried out in 3-D and 4-D formats. A disk with a record is issued on hand.

All parents want their kids to be healthy. But at the stage of pregnancy, few people think that a child may be born with some kind of disorder. However, the probability similar situation necessarily taken into account by doctors. Indeed, many problems in the development of the baby can be successfully corrected even before he is born, and some violations are so serious that it is better to know about them in advance and make appropriate decisions. The topic of our conversation today will be intrauterine malformations of the fetus. Let's talk about what congenital malformations of the fetus are, what causes of their appearance we will name, we will tell you how they are determined (screening, analysis) and prevention.

Causes of fetal malformations

Doctors say that there are many factors that can cause developmental anomalies in children at the stage of intrauterine development. Most often, such violations are explained by various genetic defects - either hereditary or acquired due to various failures in the process of embryogenesis.

Problems at the genetic level can be caused by the influence of insufficiently favorable environmental factors, for example, ionizing radiation, exposure to aggressive chemical substances and even some medicines.

Also, malformations can occur due to maternal illness, due to the fact that there is a serious lack of vitamins and minerals in the body. The influence of bad habits on the fetus is also dangerous.

Sometimes genetic defects are passed on to children from one of the parents or occur after the genetic information of a man and a woman is combined.
It is worth noting that in most cases, the genetic mutation of the fetus causes the cessation of its development even in the early stages of pregnancy.

Congenital malformations of the fetus

All anomalies, as well as fetal malformations, can be divided into two main groups. These are hereditary and congenital pathologies.

Hereditary defects are Shereshevsky Turner syndrome, Down syndrome, color blindness, hemophilia, ptosis, etc.

And congenital - heart defects, hernias, dislocations of the joints, deformities of the maxillofacial region, congenital malformations of the nervous system, etc.

It should be noted that most often developmental anomalies are explained by a combination of the presence of a hereditary predisposition and the influence of aggressive factors.

Definition of fetal malformations

For early detection possible violations in the development of the fetus, the expectant mother has to undergo a lot of research. In fact, prenatal diagnosis fetal malformations is a rather complicated process. And one of milestones such a diagnosis is screening for fetal malformations. This is a whole complex of examinations, which is carried out at the twelfth, twentieth and thirtieth week of pregnancy. An analysis for fetal malformations helps to detect biochemical serum markers of chromosomal pathologies in the blood.

In the first trimester of pregnancy, at 12 weeks of pregnancy, the expectant mother must undergo the so-called double test. A blood test allows you to find out the amount of free β-hCG subunit in the blood, as well as PAPP-A (plasma protein A associated with pregnancy). The analysis is complemented by data from ultrasound.

In the 2nd trimester of pregnancy, an analysis is carried out for the level of total hCG or free β-hCG subunit, for AFP (alpha-fetoprotein), as well as for the amount of free (unconjugated) estriol. The analysis is necessarily supplemented by the results of ultrasound.
When the 30th week of pregnancy approaches, an ultrasound of the uterus and fetus is performed.

The most informative diagnosis of congenital malformations of the fetus is a research method using ultrasound. Ultrasonography allows you to identify a variety of anomalies - and suspect genetic disorders, and identify abnormal formation of organs, etc.

HCG study allows you to determine uterine pregnancy, its abnormal change can be observed in some chromosomal pathologies.
Too high alpha-fetoprotein can be detected with the development of open malformations of the central nervous system, and a decrease in this substance indicates the likelihood of developing Down syndrome.

The amount of estriol should gradually increase as the fetus develops.

It should be noted that blood tests for fetal malformations are far from always informative. Fluctuations in indicators can be explained emotional state future mother, her health problems, non-compliance with the diet and even an error during blood sampling and direct research.

In the event that the results of ultrasound and blood tests are alarming and show a high probability of fetal malformations, the doctor may advise the expectant mother to undergo invasive diagnostic methods:

Chorionic biopsy - sampling and examination of part of the cells gestational sac, allows you to identify the presence of genetic pathologies;

Amniocentesis - taking a certain amount of amniotic fluid, in the first trimester such a study helps to identify hyperplasia of the adrenal cortex, and in the second - chromosomal pathology and ailments of the nervous system;

Placentocentesis - a study of the share of the placenta, carried out from the twelfth to the twenty-second week of pregnancy and allows you to identify the presence of genetic pathologies;

Cordocentesis - taking some blood from the umbilical cord developing fetus, such a study allows you to determine the presence of blood diseases and infection of the fetus;

Fetal skin biopsy - performed to identify certain skin ailments.

Prevention of fetal malformations

Extremely important role plays a competent prevention of possible fetal malformations. Conscious preparation for pregnancy of a man and a woman is the main measure to prevent such problems. The right approach to the birth of the baby allows you to quickly achieve desired conception, ensure a trouble-free course of pregnancy and childbirth, and also affects the health of the baby throughout his life.

Both parents need to be examined in advance for the presence of latent infections, to determine the presence of possible chronic ailments. Visiting a competent geneticist plays an extremely important role. Such a doctor helps to find out whether any diseases will manifest in a child, reveals a tendency to genetic diseases, analyzing the health characteristics of representatives of previous generations.

The most important factor For successful development and the birth of a healthy baby is the right healthy lifestyle, both during the entire period of gestation, and long before the onset of conception. The expectant mother must definitely give up bad habits, eat right and balanced, eliminate the influence of aggressive factors: physical, chemical and biological. To prevent complications during the bearing of a baby, it is necessary to treat existing diseases in a timely manner. Directly during pregnancy, it is extremely important to follow all the recommendations of a qualified gynecologist, to undergo the necessary examinations that allow timely identification of possible deviations in the natural development of the fetus.

Fetal malformations are a serious problem that often requires making unpleasant decisions, such as artificial termination of pregnancy. But some problems of this kind are quite amenable to correction during gestation or shortly after the birth of a child.

Folk recipes

Expectant mothers should not use most drugs and herbal preparations because they can break normal course pregnancy and even cause fetal malformations. But some herbs for pregnant women can be of great benefit.

So herbal remedies can come in handy if you need to calm down and make it easier to fall asleep. An excellent choice would be ordinary mint. For cooking medicinal product chop the peppermint leaves. Brew a teaspoon of such raw materials with a glass of boiling water and leave it under the lid for ten to fifteen minutes.

Strain the finished drink and add honey and lemon to it if desired. Drink this tea one or two glasses a day, no more.

For successful pregnancy, it is extremely important to consult a doctor at the stage of conception planning, follow the advice of a specialist and undergo all the necessary examinations during all three trimesters.

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.

Developmental anomalies 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 big size and brain mass - macrocephaly). In all cases, these deviations adversely affect the physical and mental development of the child, and often lead to his death.

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

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

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

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

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

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

Down syndrome

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

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

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

Expectant mothers need to know that before having an abortion when a child has Down syndrome, you need to think carefully. Such children are very affectionate, kind, and the degree of their dementia varies greatly. At present, such children, although more slowly than healthy children, can be taught 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 canal, there are heart defects and blood vessels, anomalies in the development of the brain, cerebellum and mental retardation. These children, as a rule, are not viable and die before the age of 3 months, rarely - before 1 year. Very rarely, such children live longer, but they are all oligophrenics (mentally retarded).

Klinefelter syndrome

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

Hemophilia

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

cystic fibrosis

This is the most common hereditary systemic disease.

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

Phenylketonuria

This disease is a consequence of a violation in the child of the exchange of the amino acid phenylalanine, as a result of which there is a delay in his physical and mental development. This disease is detected in the first days of a child's life. It is not a judgment. When appointed 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. When splicing only soft tissues and with the independent functioning of each child, the treatment is operative.

Umbilical and spinal hernias

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

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

Malformations of the heart and blood vessels

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

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

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

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

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

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

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

by another group hereditary diseases are those to which the child has a hereditary predisposition, but clinically this disease manifests itself only when certain conditions external environment. These diseases include: diabetes 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). Each future mom From the first days of pregnancy to the very birth, she 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. Also, if you are driving correct image life, do not smoke, do not use drugs and alcohol, your genetics does not have serious hereditary diseases, then the risk of giving birth to an unhealthy child is practically absent, and you can be calm about your future baby.

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

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

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