Congenital and hereditary diseases.

How often do we hear: “My grandmother rewarded me with allergies, she coughed until she sneezed all the way” or “What do you want from Vasya, his father did not dry out. Bad heredity ... ”Is it true that most of the so-called terrible diseases are inherited? Should you be afraid to give birth if your aunt is schizophrenic? What are congenital diseases and is it possible to live with them? Let's figure it out together!

congenital diseases

With them, a person is born. Sometimes they declare themselves immediately, from the first days of life, sometimes they wake up after many, many years. Some congenital diseases are caused by microbes. Congenital syphilis, AIDS, tuberculosis sick parents infect their children with this muck. Others arise from harmful effects to the fetus during pregnancy. For example, violations nervous system in a newborn with a drunken conception, or jaundice and liver damage with an Rhesus conflict between mother and child.

Sometimes no reason can be identified at all: the parents are healthy, do not drink, do not smoke, and the baby has a congenital heart disease. Or the nightmare of women who give birth late, Down's syndrome (a combination of a mental defect and a specific Mongoloid appearance) is also congenital: immediately after conception, the embryo's chromosomes were incorrectly divided.

Congenital diseases are not inherited. Even if some chromosome is “broken”, this is an isolated case and the children of a sick person will not inherit the “breakage”.

What will save you

It is the duty of parents to take care of their children. A month before the alleged act of conception, we stop drinking, smoking, we treat all our chronic sores, including sexually transmitted ones, we take vitamins. A pregnant mother registers as early as possible and follows all the doctor's instructions.

hereditary diseases

As if they are attached to the genes and pass along with them from parents to children. However, getting a "sick gene" does not mean getting sick. For the manifestation of a hereditary disease, a meeting of a couple of dozen defective genes is required, and such a fatal coincidence happens quite rarely. It is more correct to say that we do not inherit the disease, but only the RISK OF ILLING.

It's curious that diabetes most often inherited in a straight line: from grandmother to mother and her son. And schizophrenia is diagonal: from aunt to nephew. Very heavy hereditary diseases are extremely rare, because the carriers of these genetic defects, sadly, die before they leave offspring.

How to be saved

In the most concrete way: if the dad has diabetes, do not feed the child with semolina, buns and chocolates; let him eat healthy food: meat, vegetables, fruits, oatmeal, rye bread and exercise to help lower blood sugar levels. Your daughter's aunt and your Native sister do not leave the psychiatric hospital for months? Then don't give your girl in Kindergarten, do not invite a nanny, educate her at home, caress her without measure, take care of her fragile psyche from the trauma of parting.

Feel free to seek advice from a geneticist, and he will tell you whether the disease that worries you is hereditary, and also how likely it is to pass it on to children.

"Acquired" diseases

For development, they need a combination of several factors: a weak spot in the body and pernicious influence environment. That is, if a person lives in favorable conditions suitable for him, then he does not get sick with anything. But as soon as his lifestyle becomes unhealthy, the disease immediately "picks up". For example, for the development of a stomach ulcer, it is not enough to pick up specific bacteria; And then defensive forces the body will decrease, the work is rather weak from birth digestive tract completely broken, the bacteria will take up their dirty work and make an ulcer in the wall of the stomach.

Acquired is the vast majority of diseases and bronchial asthma, and multiple sclerosis, and hypertonic disease and spondylosis of the spine. All of them are not contagious and are not transmitted directly from parents to children. But weak spots we often inherit along with physique and character. For example, peptic ulcer people who are punctual, anxious, thin, taller than average are somewhat more likely to get sick; and gallstones are short-tempered, short, full and stocky.

What will save you

After studying the illnesses of relatives and looking at yourself in the mirror, “who do I look like?” it won't be a problem to live in such a way that you don't pick up everything that mom and dad suffered. Read books about healthy lifestyle life, pick effective ways fight stress, and most importantly, do not forget to put this extensive theoretical knowledge into practice!

Why there is confusion

Sometimes hereditary diseases called "congenital", which reflects the one and only fact with them the baby was born. Or they talk about acquired diseases as “inherited from parents”, meaning: “You look like them, live like them and get sick with the same”. When a doctor talks about genetic disease”, he means that the disease is associated with a violation in the genes, and nothing more. In order not to get confused, always meticulously ask the doctor what meaning he puts into this or that term.

What can cause congenital diseases? Experts are sure that there may be several reasons, but the main ones are the hereditary factor and fetal mutations during the gestation period.

Mutation of the fetus is one of the most common causes of deviations in its development, which leads to various intrauterine pathologies. Gene mutations can be inherited from generation to generation, appearing only sporadically. The mutation can occur directly during the fertilization of the egg, or even earlier, if the carrier of the mutation is a sperm or egg.

Viral infection is the most famous external enemy of the embryo. The most terrible of them for the fetus is the rubella virus. If a mother becomes ill with rubella during pregnancy, this can lead to a disease that will then be characterized as congenital. The disease can affect any organ or organ system, and the consequences of such an attack can be the most deplorable for the fetus. That is why doctors recommend terminating a pregnancy if a pregnant woman becomes ill with rubella in the first trimester of the gestation period.

During this period, all organs in the embryo are laid down, respectively, the effect of the virus will have the most adverse effect for their formation. Just as negative impact possess influenza viruses, cytomegalovirus. It is worth considering that the more serious the pathology of the fetus, the faster and more clearly it manifests itself on ultrasound, which allows you to terminate the pregnancy as early as possible and prevent the birth of a child with defects incompatible with life. Often, spontaneous miscarriages in women are associated with this. Nature took care that the fetus with gross defects ceased to exist in a timely manner in a natural way.

Hip dysplasia is a disease commonly referred to as hip dislocation. Improper development of bone and cartilage tissue and constituent elements hip joint during the period of gestation - these are the main causes of the disease. Congenital dysplasia is more often observed in girls, in most cases, were in the breech presentation in the womb. What can provoke this pathology? This may also be hereditary factors, and viral diseases mothers during pregnancy, and hormonal imbalance, and bad ecological situation, and other reasons.

Clubfoot is another congenital disease associated with wrong development bone and cartilage tissue, this time, in the joints of the feet. Inversion of the foot to the inside, limitation of joint mobility - these are the main signs of this disease. A birth defect can be corrected if you turn to an orthopedist in time.

Congenital muscular torticollis is a pathology of development of the sternocleidomastoid muscle. The child has an unnatural position of the head - it is tilted to the side and forward. main reason- incorrect presentation of the fetus in the womb, when the head was in an unnatural position. Main symptom diseases can be seen immediately after the birth of the baby - the head is constantly tilted to the side, asymmetry of the face is possible. If you immediately take measures to correct the deficiency, torticollis can be cured by massage, gymnastics and the special position of the baby in the crib. AT difficult cases Maybe surgical correction lack of development of the sternocleidomastoid muscle.

congenital deformities chest can be determined by appearance the sternum of a newborn - it is pressed inward or sticks out too much. In the first case, the deviation leads to disruption of activity. internal organs, which are squeezed by the chest. The keeled chest is a consequence of rickets or tuberculosis, and is also due to hereditary factors.

Congenital diseases in children associated with the pathology of the development of bone and cartilage tissue are numerous - these are club hand, and high standing of the scapula, and gigantism, and deviations in the development of the fingers and toes, as a result of which they may be more or less than normal, and many others . There are also defects in appearance that do not affect the vital activity of the organism as a whole. To this category congenital diseases relate: cleft lip, cleft palate, non-closure of the corner of the mouth, anomaly in the development of the skull, and others.

Down syndrome is a congenital disease that does not undergo treatment. The pathology is caused by improper division of chromosomes, as a result of which the Down child has 27 pairs of chromosomes instead of 26. The syndrome is manifested by the special structure of the internal organs, outward signs, dementia. At the same time, a person with Down syndrome is not dangerous to society - such people are usually peaceful and non-conflict.

On the way to the birth of a child, two dangerous traps await: hereditary and congenital diseases. What is the difference between them? How bad ecology affects the fetus? What diseases of the mother can be a death sentence for a child? Can antibiotics be taken during pregnancy? Answers these and other questions Mikhail Ivanov, Head of the Laboratory of Molecular Genetics of the Perinatal Medical Center.

Insidious Mutations

- Mikhail Alekseevich, congenital - does this mean that arose before birth?
- Yes. One of the causes of defects is mutations (changes in hereditary structures). They can be inherited, that is, transmitted from generation to generation, they can occur in the fetus in the prenatal period at the level of embryo formation. Mutations can occur at the time of the fusion of the sperm and egg, and even earlier - before conception, that is, through the fault of the sperm or egg.
The mutation occurs in the parent, although the parent is healthy. Just under the influence of some external factors, let's say radiation, there is a failure in the genetic structure of the cell. For example, people lived in Ukraine or, for example, in the Tula region. And one day in the summer of 1986 they were covered by a radiation cloud of Chernobyl. These people themselves remained healthy, but their germ cells have changed - they have acquired certain mutations under the influence of ionizing radiation. And as a result, they began to give birth to children with defects. Moreover, during the radioactive contamination, it suffered to a greater extent reproductive system not in women, but in girls up to 10 years old, who have now reached reproductive age. And suddenly it turns out that most of them are either infertile or have problems with pregnancy. And if they come to me with primary infertility of unknown origin, one of the first questions I ask at an appointment is, "Where were you or your parents in the summer of 1986?"

– Can this acquired mutation become hereditary in the future?
- Yes. But since it arose for the first time in a given fetus or embryo, it is considered congenital. Except genetic mutation There are many other reasons leading to the development of defects. There is such a process as embryogenesis (the laying of organs and tissues in the fetus). The main bookmark occurs on the 8th - 13th week prenatal development, when the chorion had already developed, a tight connection formed between fertilized egg and uterus, nutrition, blood supply. Figuratively speaking: the foundation has been laid, the roads, communications have been laid, the entire infrastructure has been created - it's time to start building a house. The embryo is ready to form a human. And during this period, both genetic factors of the embryo itself and external ones can affect the bookmark. And the younger the embryo, the more pronounced the pathology.

- Why?
- The fact is that at the stage of the blastocyst ( initial stage development of the embryo) all cells are stem cells, that is, the same, and if some of them are affected, then they are freely replaced by others, healthy ones. But when the embryo has already attached to the wall of the uterus (this happens on the 15th day of its development), its rapid growth began and the differentiation of cells into sprouts began, from which organs will then be formed, then the cell reserve that can be used to replace defective cells , is getting smaller and smaller.
At this stage, the defects are already more isolated, that is, if a specific sprout is affected, for example, responsible for the genital organs, then in the future we can expect such defects as aplasia or hypoplasia (complete or partial underdevelopment) of the uterus and vagina. On the 5th - 6th weeks, the formation of the circulatory system and the neural tube takes place, which means that the heart, the surrounding vessels, and the spinal cord can be affected.

Enemies all around

- Who is the most dangerous enemy of the embryo?
- The most famous external factor – viral infections. And the most destructive of them is the rubella virus. It operates systematically varying degrees affecting all organs. That is why it is impossible to predict what exactly will be affected. Impact result this virus always unpredictable, but the consequences are clear.

- If it is unpredictable, then why is it recommended for a woman who gets rubella in the first trimester to terminate the pregnancy?
- Because the main laying of organs and systems occurs precisely in the first trimester. Malformations of the fetus can also cause a severe form of influenza. Cytomegalovirus is also dangerous if it acute form. It is fraught with multiple vices incompatible with life. In this case, the patient is under the special supervision of a gynecologist. And if the ultrasound shows signs of a defect, then the doctor may raise the question of terminating the pregnancy.
In a latent form, cytomegalovirus does not pose a threat. The brighter the defect, the earlier it is detected on ultrasound and the earlier the birth of a terminally ill child can be prevented. Still agree to have an abortion medical indications it is psychologically easier than giving birth to a child who is doomed to die after a short time. With gross defects, the fetus will not develop at all and everything will end in a miscarriage. Nature protects our psyche from severe shocks, so the lion's share of defective embryos die.

- Is angina also capable of disfiguring the fetus?
- No, the pathogen itself is not capable of this, but if the disease is severe, with high temperature and severe intoxication, this can significantly complicate the course of pregnancy up to its termination.

Likbez
Congenital malformations - these are diseases that are present in overt or latent form already at birth. In the structure of perinatal morbidity and mortality, congenital diseases occupy one of the first places.
Fetopathy - a disease of the fetus.
There are two concepts: embryo and fetus.
The embryo becomes a fetus when the placenta is formed, more precisely, when the chorion becomes the placenta: the period from 11 to 16 weeks.

Why did nature do this? Why does she leave the embryo absolutely defenseless in the first 12 weeks?
- Because it is during the laying of organs and tissues that the embryo needs maximum growth, maximum nutrition, maximum connection between mother and child. The embryo must develop at atomic speed, and barriers will prevent a powerful flow nutrients quickly reach the goal. The barrier is customs. And when there is famine in the state, customs control temporarily eliminated in order to quickly fill the market with products. And, as often happens, not only food, but also tons of harmful things, such as drugs, are being massively imported into the country. Remember, in the late 80s, the authorities announced glasnost, abolished censorship, and a flood of information, necessary and unnecessary, fell upon us. Then the process began to be streamlined, and, in the end, censorship was introduced from above, which today already filters all the media.

- I see, it means that the chorion is freedom without borders, and the placenta is a regime with barbed wire, where outsiders are not allowed to enter. Now I would like to clarify information about antibiotics. Some doctors believe that although they have a pathological effect on the fetus, they do not cause true malformations.
- Let's find out for a start what a malformation is. This is something that is not normal, not like everyone else. That is, 99% of people living on earth do not have such a defect, but 1% does. A malformation is a dysfunction. If a long nose grows from taking some drug, but it breathes well and the sense of smell is preserved, then this is not a malformation, but idiosyncrasy, personality trait. But if after taking the drug the sense of smell will disappear, although the shape of the nose will not change, then this is already a malformation. Taking any antibiotics during the first trimester of pregnancy should be prescribed for health reasons, when the threat to the health of the mother outweighs the risk of a pathological effect on the fetus.

“That, it turns out, is where the Whiskas commercial teaches us how to kiss cats. Is it true that toxoplasmosis causes miscarriage?
- If the infection occurred in the first trimester, then the fetus usually dies. With toxoplasmosis, a child develops predominantly a lesion of the nervous system, up to the development of hydrocephalus (fluid in the brain, when the head resembles a bubble, on the inner walls of which the substance of the brain is smeared).

Who is guilty

- My 40-year-old friend, who decided to have a baby, was scared to death by the doctor with the overmaturation of germ cells, because of which mutant children are obtained.
- With age, the body ages, biological processes gradually fade, the cell cycle, which goes through several stages, also changes. And if the egg of a young woman contains 46 chromosomes, then the woman middle age it can contain 45, 47, 69 chromosomes. And sadly, but the fact remains: in old-bearing mothers, the risk that the cell cycle of the embryo will be disrupted is much higher than in young ones. Patients are often unaware that Down syndrome is congenital pathology and not hereditary. From a down, a down will not be born.

What about being born healthy?
“No one will ever be born. People with Down syndrome are mostly infertile. By the way, in 95% of cases the cause of congenital genetic and chromosomal disorders in the fetus lies precisely in the woman - during the maturation of the egg, non-disjunction of chromosomes occurs.

"But why is it always the woman's fault?"
- Because the process of maturation of the egg is much more complicated than the process of maturation of the sperm. And the more complex the process, the more likely errors.

- It turns out that men do not bear any responsibility for the congenital diseases of their children?
- They do, but not to the same extent as their wives. If the father endocrine disease such as diabetes mellitus, it can affect the cell cycle of the embryo and cause malformations. After all, diabetes is characterized not only by an increase in blood sugar levels and insulin deficiency. One of bright signs of this disease diabetic foot when it becomes covered with ulcers, the leg rots and falls off. So diabetes affects the whole body.
If the mother has diabetes, then the nutrition of the fetus is disrupted and, as a result, its maturation is disrupted, and this, in turn, causes a malfunction in cell cycle. As a result, a development error occurs. Any disease that has a systemic effect on the fetal body leads to unpredictable defects.

To drink or not to drink?

- Most disputes on the Web are about alcohol. Many doctors forbid pregnant women from drinking alcohol, arguing that it can cause heart, kidney, genital, and limb defects. What about your opinion?
– A glass of good dry red wine with dinner 2-3 times a week is good for pregnant women. Red wine contains many antioxidants, increases hemoglobin and improves blood circulation in the microcirculatory bed, including in the mother-placenta-fetus system. And if immoderately and chronically consume strong alcoholic beverages, then there will be a lot of ketones in the blood (which give hangover syndrome in the morning), and ketones not only poison the mother's body, but can also penetrate the fetoplacental barrier to the fetus, poisoning it. And the child's liver is not always ready to resist such gifts.

- Let's say the mother chronically drank before pregnancy, and then came to her senses and gave up alcohol. Will her drunken past still affect the child?
- Maybe. If she firmly laid her collar, then the eggs that matured in her could carry a pathology. It is likely that damage to the egg itself is likely, as a result of which the fetus will experience birth defects.

vicious life

Are all congenital diseases destructive?
- Such congenital anomaly, such as cleft lip, occurs due to a violation of the laying of the neural tube. After the birth of the child, they operate, and then he lives normally. Congenital diseases that do not affect functional state organism, are usually expressed in external cosmetic defects and easily removed.

- What diseases are more common - congenital or hereditary?
- Congenital, since there are more new changes than inherited ones. Inherited - this is most often the result natural selection. As a result of most severe hereditary diseases, children do not live to reach the age of puberty, so they cannot conceive their own kind. The family line is interrupted on a sick child, and then the disease does not spread. 1 child with Down syndrome accounts for 700 newborns. And the frequency of the birth of children with cystic fibrosis is 1 in 5000.

birth defects
1. Aplasia (agenesis) - congenital absence of an organ (one or more fingers, uterus, vagina).
2. Congenital hypoplasia (hypotrophy) - underdevelopment of an organ, manifested by a deficit in its mass or a decrease in size, exceeding the deviation from the average indicators for a given age.
3. Congenital hyperplasia (hypertrophy) - an increase in the mass of an organ or its size due to an increase in the number or volume of cells.
4. Macrosomia (gigantism) - an increase in body length.
5. Heterotopia (dystopia) - the presence of cells or tissues of one organ in another or in those areas of the same organ where they should not be normal.
6. heteroplasia - violation of cell differentiation within the same tissue.
7. ectopia - location of the organ unusual place. The presence of a kidney in the pelvis, the heart - outside the chest. Doubling and increase in the number of one or another organ or part of it, for example, doubling of the uterus, double aortic arch.
8. congenital stenosis - narrowing of the channel or hole.
9. Atresia - lack of a natural channel or opening.
10. Non-separation (fusion) of organs two symmetrically or asymmetrically developed identical twins. Non-separation of limbs or limbs, such as non-separation of fingers.
11. Dysraphia (araphia) - non-closure of embryonic fissures (for example, cheilognatopalatoschis - cleft of the upper lip, upper jaw and palate, craniorachischis - non-closure of the bones of the skull and spine, usually accompanied by the development of craniocerebral and spinal hernias).

What is the most common defect?
- Hypoplasia. These defects are now clearly detected by ultrasound. Big influence hypoplasia is caused by fetoplacental insufficiency - a violation of blood circulation in the system mother - placenta - fetus, which leads to intrauterine growth retardation of the fetus, and this is fraught with problems.

Is homosexuality a vice? One pediatric endocrinologist He hypothesized that homosexuality is a congenital disease. He explains it this way: the child experiences mini-puberty in utero, that is, his testosterone level is the same as that of an 18-year-old boy. high testosterone the fetus needs for the correct laying of the genital organs and the formation of a normal sexual orientation in the future. If there is little testosterone, then the orientation is disturbed.
- I can hardly believe it. If we take a traditionally oriented man and a homosexual, they are physiologically identical. I do not think that the orientation is determined at 11 - 12 weeks of pregnancy. Orientation is more influenced by external, social factors: in what environment a boy and a girl grow up. It seems to me that another theory is closer to the truth. Its essence is that most boys experience an Oedipus complex - love for their mother, that is, a priori love for a woman. So, the boys who experience such a complex have a normal orientation. And those who do not worry, because, for example, they see how a father commits violence against a mother or a mother is rude, cruel, cold with children, become homosexuals.

- Today it is fashionable to explain the causes of many diseases by stress. I wonder if it affects the occurrence of congenital diseases?
– Influences, but indirectly. Emotional stress is general reaction body to an external stimulus. Fired from work, divorce, death loved one- such factors can change hormonal background. It seems to a woman that she has a delay in menstruation due to stress, but in fact this is not a delay, but pregnancy. In complete ignorance, she drowns out feelings with hard drugs, sedatives, antidepressants, which have a detrimental effect on the embryo.

How gentle we are.
- In reality, we are more adapted to stress than our ancestors - fish, birds. It is worth a little change in temperature, climate, as animals die right there, and we adapt and survive in any conditions.

How are birth defects diagnosed?
- With the help of ultrasound. If the doctor detects a defect, then, if necessary, he will prescribe an invasive diagnosis - a biopsy of the chorionic villi, or amniocentesis. For example, if a malformation of the heart (congenital stenosis) is detected, then the decision will be made collectively. Obstetrician-gynecologist will invite a doctor ultrasound diagnostics from the Bakulev center, and after examining the woman, he will say whether the defect can be corrected or not.
Any defects that are compatible with life (that is, if the child is born and can live until the time of the operation) are correctable. Brain defects are not treated: microcephaly (underdevelopment), hydrocephalus, acephaly (no brain, empty skull). In this case, the child will either die or be doomed to disability. Siamese twins, who have common organs and all systems. Some malformations are not corrected until puberty, such as malformations skeletal system. While the body is growing, it is pointless to correct such a defect.

– Is there a prevention of congenital diseases?
- Yes. It is aimed at preventing the birth of a sick child. And this can only be done with the help of ultrasound and invasive fetal diagnostics. If the child has a defect, then the patient will have to be observed more often, more often to do an ultrasound. By and large, if a woman has diseases, for example, of the kidneys, heart, liver, then she should plan a pregnancy in order to have time to prepare for it - to be examined by specialists. If it's heavy neurological disease and the woman is taking medications that can harm the fetus, it is necessary to consult a doctor so that he chooses another therapy.

At the beginning of the 21st century, there are already more than 6 thousand types of hereditary diseases. Now in many institutes of the world a person is being studied, the list of which is huge.

The male population has more and more genetic defects and is less likely to conceive healthy child. While all the reasons for the patterns of development of defects are unclear, however, it can be assumed that in the next 100-200 years science will cope with the solution of these issues.

What are genetic diseases? Classification

Genetics as a science began its research path in 1900. genetic diseases called those that are associated with deviations in the human gene structure. Deviations can occur both in 1 gene and in several.

Hereditary diseases:

1. Autosomal dominant.
2. Autosomal recessive.
3. Hooked to the floor.
4. Chromosomal diseases.

The probability of an autosomal dominant deviation is 50%. With autosomal recessive - 25%. Sex-linked diseases are those caused by a damaged X chromosome.

hereditary diseases

Here are some examples of diseases, according to the above classification. So, dominant-recessive diseases include:

• Marfan syndrome.
• Paroxysmal myoplegia.
• Thalassemia.
• Otosclerosis.

Recessive:

• Phenylketonuria.
• Ichthyosis.
• Other.

Sex-linked diseases:

• Hemophilia.
• Muscular dystrophy.
• Farby disease.

Also on hearing human chromosomal hereditary diseases. The list of chromosomal abnormalities is as follows:

• Shereshevsky-Turner syndrome.
• Down Syndrome.

Polygenic diseases include:

• Dislocation of the hip (congenital).
• Heart defects.
• Schizophrenia.
• Cleft lip and palate.

The most common gene anomaly is syndactyly. That is, the fusion of fingers. Syndactyly is the most innocuous disorder and is treated with surgery. However, this deviation accompanies other more serious syndromes.

What diseases are the most dangerous

Of those listed diseases, the most dangerous hereditary human diseases can be distinguished. Their list consists of those types of anomalies, where in chromosome set trisomy or polysomy occurs, that is, when instead of a pair of chromosomes, the presence of 3, 4, 5 or more is observed. There is also 1 chromosome instead of 2. All these deviations occur due to a violation of cell division.

The most dangerous human hereditary diseases:

• Edwards Syndrome.
• Spinal muscular amyotrophy.
• Patau syndrome.
• Hemophilia.
• Other diseases.

As a result of such violations, the child lives for a year or two. In some cases, the deviations are not so serious, and the child can live up to 7, 8 or even 14 years.

Down syndrome

Down syndrome is inherited if one or both parents are carriers of defective chromosomes. More specifically, the syndrome is linked to a chromosome (i.e., chromosome 21 is 3, not 2). Children with Down syndrome have strabismus, wrinkling of the neck, abnormally shaped ears, heart problems, and mental retardation. But for the life of newborns, a chromosomal anomaly does not pose a danger.

Now statistics say that out of 700-800 children, 1 is born with this syndrome. Women who want to have a baby after 35 are more likely to have such a baby. The probability is somewhere around 1 in 375. But a woman who decides to have a baby at 45 has a probability of 1 in 30.

acrocraniodysphalangia

The type of inheritance of the anomaly is autosomal dominant. The cause of the syndrome is a violation in chromosome 10. In science, this disease is called acrocraniodysphalangia, if it is simpler, then Apert's syndrome. It is characterized by such structural features of the body as:

• brachycephaly (violations of the ratio of the width and length of the skull);
• fusion of the coronal sutures of the skull, as a result of which hypertension is observed (increased blood pressure inside the skull);
• syndactyly;
• convex forehead;
• often mental retardation against the background of the fact that the skull squeezes the brain and does not allow nerve cells to grow.

Nowadays, children with Apert syndrome are prescribed surgical operation to increase the skull to restore blood pressure. And mental underdevelopment is treated with stimulants.

If there is a child in the family who has been diagnosed with the syndrome, the likelihood that a second child will be born with the same abnormality is very high.

Happy Doll Syndrome and Canavan-Van Bogart-Bertrand Disease

Let's take a closer look at these diseases. You can recognize Engelman's syndrome somewhere from 3-7 years. Children have seizures poor digestion, problems with coordination of movements. Most of them have strabismus and problems with the muscles of the face, because of which the smile is very often on the face. The movements of the child are very constrained. For doctors, this is understandable when a child tries to walk. Parents in most cases do not know what is happening and even more so with what it is connected. A little later, it is also noticeable that they cannot speak, they only try to mutter something inarticulately.

The reason why a child develops a syndrome is a problem in the 15th chromosome. The disease is extremely rare - 1 case per 15 thousand births.

Another disease - Canavan disease - is characterized by the fact that the child has a weak muscle tone He has trouble swallowing food. The disease is caused by damage to the central nervous system. The reason is the defeat of one gene on the 17th chromosome. Thereby nerve cells of the brain are destroyed at a progressive rate.

Signs of the disease can be seen at 3 months of age. Canavan disease manifests itself as follows:

1. Macrocephaly.
2. Seizures appear at the age of one month.
3. The child is unable to hold his head upright.
4. After 3 months, tendon reflexes increase.
5. Many children go blind by the age of 2.

As you can see, human hereditary diseases are very diverse. This list is for example only and is far from complete.

I would like to note that if both parents have a violation in 1 and the same gene, then the chances of giving birth to a sick child are high, but if there are anomalies in different genes, then there is no need to be afraid. It is known that in 60% of cases chromosomal abnormalities in the fetus lead to miscarriage. But still 40% of such children are born and fight for their lives.

Congenital diseases are a group of diseases and pathological condition, the occurrence of which is associated with a violation of the developmental processes of the organism at various stages of its formation in the antenatal period. Congenital diseases are divided into two groups:

hereditary diseases.

These are diseases transmitted to offspring, caused by changes in hereditary information - gene, chromosomal and genomic mutations. The terms "hereditary diseases" and "congenital diseases" are not synonymous. Congenital are called diseases that are detected from birth; they can be associated with both hereditary and exogenous factors. For example, malformations can occur not only with genetic disorders, but also as a result of the action on the embryo of information factors, ionizing radiation, chemical. compounds, medicines. Hereditary diseases are not always congenital, since many of them do not appear immediately after birth, but after several years, sometimes decades (for example, Huntington's chorea develops over the age of 40).

Known ca. 3 thousand hereditary diseases and syndromes that determine a rather significant "genetic load" of mankind. Hereditary diseases are divided into three main groups:

monogenic, caused by a defect in one gene;

polygenic (multifactorial) associated with a violation of the interaction of several genes and factors environment;

chromosomal, resulting from a change in the number or structure of chromosomes.

Monogenic diseases are most often caused by mutations in structural genes; etiol, the role of mutations of genes-regulators at some diseases is proved only indirectly. According to the type of inheritance, monogenic diseases are divided into: autosomal dominant, autosomal recessive and sex-linked. With an autosomal dominant type of inheritance, the effect of the mutant gene is almost always manifested. The probability of developing the disease in the offspring is 50%. Sick boys and girls are born with the same frequency. One of the parents of a sick child is necessarily sick. According to the autosomal dominant type, mainly diseases are inherited, which are based on a violation of the synthesis of structural proteins or proteins that perform specific functions (for example, hemoglobin). These include some hereditary kidney diseases, Marfan syndrome, hemochromatosis, some types of jaundice, neurofibromatosis, familial myoplegia, thalassemia, etc.

With an autosomal recessive type of inheritance, the mutant gene appears only in the homozygous state, when one recessive gene the child receives from the father, and the second - from the mother. The probability of having a sick child is 25%. Sick boys and girls are born with the same frequency. Parents of sick children may be outwardly healthy, but are heterozygous carriers of the mutant gene. Autosomal recessive inheritance is most characteristic of metabolic diseases in which the function of one or more enzymes is impaired.

Recessive inheritance linked to the X chromosome means that the action of the mutant gene is manifested only with the XY set of sex chromosomes, i.e. in boys (girls have sex set XX). The parents of an affected child may be healthy, but if the mother is a carrier of the mutated gene, the probability of having an affected boy is 50%; girls in this case are born healthy, but half of them are carriers of the mutant gene (the so-called conductors). Often the disease is found in the sons of the sisters of the patient or his cousins on the maternal side. A sick father does not transmit the disease to his sons, but daughters can get sick only if the mother is also a carrier of the mutant gene. This type of inheritance is characteristic of progressive muscular dystrophy Duchenne type, hemophilia A and B, Gunter's disease, etc.

Dominant inheritance, linked to the X chromosome, is that the action of the dominant mutant gene is manifested in any set of sex chromosomes (XX, XY, XO, etc.), i.e., regardless of gender. The disease is more severe in boys. One of the parents of a sick child is necessarily sick. Among the children of a sick man, all the sons are healthy, and the daughters are sick. Affected women pass on the altered gene to half of their sons and daughters. This type inheritance can be traced in a rickets-like disease - phosphate-diabetes.

According to the phenotypic manifestation, monogenic hereditary diseases are divided into metabolic diseases caused by the absence or decrease in the activity of one or more enzymes; diseases associated with impaired synthesis of structural proteins; immunopathology; diseases caused by impaired synthesis of transport proteins; pathology of the blood coagulation system, the transfer of substances through cell membranes, hormone synthesis, DNA repair. The most extensive and studied group of monogenic hereditary diseases are metabolic diseases (enzymopathies). The primary defect of the enzyme has been deciphered in approximately 150 enzymopathies. Violation of the synthesis of structural proteins (proteins that perform plastic functions) - probable cause diseases such as osteodysplasia and osteogenesis imperfecta. There is evidence of a certain role of these disorders in the pathogenesis of hereditary nephritis-like diseases - Alport syndrome (characterized by hematuria, hearing loss) and familial hematuria. Gene mutation can lead to pathology immune system; agammaglobulinemia is the most severe, especially in combination with aplasia thymus. Violation of the synthesis of hemoglobin, a blood transport protein, due to gene mutation, underlies the development of sickle cell anemia. A number of mutations in genes that control the synthesis of blood coagulation factors are known. Genetically determined disorders in the synthesis of VIII, IX or XI coagulation factors lead to the development of hemophilia A, B or C, respectively. membrane transport cystine and diaminocarboxylic acids (arginine, lysine and ornithine) in the kidneys and intestines. The disease is inherited in an autosomal recessive manner and is manifested by increased urinary excretion of cystine, the development of nephrolithiasis and interstitial nephritis. Diseases associated with a genetic defect in the synthesis of hormones include hereditary hypothyroidism, caused by a violation of the synthesis of thyroid hormones. Diseases are under study, which are based on the insufficiency of DNA repair mechanisms (restoration of its altered molecule). Violation of DNA repair has been established in xeroderma pigmentosa, Fanocopia anemia, systemic lupus erythematosus and some other diseases medical encyclopedia. Yu.E. Veltishchev..

non-hereditary diseases.

Congenital diseases of non-hereditary etiology are associated with the influence of adverse internal and environmental factors - physical (ionizing radiation), chemical, biological (various infectious diseases caused by viruses, bacteria, protozoa) acting during pregnancy. Their influence is most pronounced in special periods, which are called critical. These include the period of implantation (7-12th day of pregnancy), the period of formation of the rudiments of organs (3-6th week), the formation of the placenta (3rd month of pregnancy). Under the action of damaging factors, the nature and direction of metabolism, typical for a given critical period of development, are easily disturbed. Depending on the time of occurrence, gametopathies, blastopathies, embryopathies, early and late fetopathy are distinguished. Gametopathies, blastopathies, embryopathies and early fetopathy appear in newborns in the form of malformations various bodies and systems. Late fetopathies are similar to inflammatory reaction mature tissue on the action of a damaging agent (for example, an infectious agent) and manifest themselves in a newborn in the form of encephalitis, meningitis, fetal hepatitis, etc. The most severe embryopathies are caused by rubella, herpes, hepatitis B viruses, and protozoa (toxoplasma, listeria). chemicals, including some medications. Alcohol (fetal alcohol syndrome), nicotine (fetal tobacco syndrome) and drugs (fetal narcotic syndrome) have a significant damaging effect on the fetus.

Prevention of the birth of a child congenital diseases includes the elimination of the action of adverse factors that can cause them, the conduct of medical genetic counseling. Need more full examination all newborns for the purpose early detection and correction of violations Brief medical encyclopedia. V. A. Tabolin..