A chromosomal abnormality is any change in the number or structure of chromosomes. The most famous of these is trisomy on the 21st pair of chromosomes (Down syndrome or mongolism). In addition, there are many other anomalies. Some of them are incompatible with life and, as a rule, cause miscarriages, others lead to a violation psychomotor development varying degrees of severity, and some changes do not have any adverse manifestations and do not affect a person's life.

The only way to know if your baby has this anomaly is to have tests such as amniocentesis or trophoblast biopsy done to determine the fetal karyotype. The karyotype is genetic map child. But such studies are carried out only in cases where the risk of a child having a chromosomal abnormality is significantly increased. Therefore, it is very important to accurately assess the likelihood of a chromosomal abnormality.

There are many ways to calculate this risk. They are all well studied scientific point vision, but the best method is one that requires minimum quantity analyzes (and, therefore, allows to reduce the frequency of unjustified miscarriages), and at the same time allows you to determine the risk of possible chromosomal abnormalities as accurately as possible.

Taking into account these requirements, scientists recommend using a method for determining the degree of risk, which takes into account the following three indicators:

The degree of risk associated with the age of the expectant mother: it is known that the risk of a chromosomal abnormality increases with the age of a woman. For example, the probability of a chromosomal abnormality of a mother's fetus at the age of 20 is 1/1500, and by the age of 39 it rises to 1/128;

The degree of risk associated with the thickness of the occipital fold of the fetus. This indicator is determined by a gynecologist during an ultrasound scan in the period from 11 to 13 weeks amenorrhea;

The degree of risk, determined by the level certain substances in the mother's blood in the first trimester of pregnancy (beta-hCG and PAPP-A protein).

This does not mean that your child has trisomy 21, but starting with this (1/250) degree of risk, the gynecologist suggests an amniocentesis.

It should be noted that only 5% of expectant mothers perform amniocentesis (all age groups), and in 97% of cases, in these 5% of women, the study does not reveal any abnormalities in the karyotype of the fetus. Which suggests that the risk of having a chromosomal abnormality is very small.

The final decision to perform an amniocentesis or a trophoblast biopsy is made only by a pregnant woman who has every right to both agree to this study and refuse it. The doctor only helps the woman to make this difficult decision.

Approximately 1 in 150 children are born with chromosomal abnormality. These abnormalities are caused by errors in the number or structure of chromosomes. Many children with chromosomal problems have mental and/or physical birth defects. Some chromosomal problems eventually lead to miscarriage or stillbirth.

Chromosomes are thread-like structures found in the cells of our body and containing a set of genes. Humans have between 20,000 and 25,000 genes that determine traits such as eye and hair color and are responsible for the growth and development of every part of the body. Each person normally has 46 chromosomes, arranged in 23 chromosome pairs, in which one chromosome is inherited from the mother, and the second from the father.

Causes of chromosomal abnormalities

Chromosomal pathologies are usually the result of an error that occurs during the maturation of the sperm or egg. Why these errors occur is not yet known.

Eggs and sperm cells normally contain 23 chromosomes. When they fuse, they form a fertilized egg with 46 chromosomes. But sometimes during (or before) fertilization, something goes wrong. So, for example, an egg or sperm cell may develop abnormally, as a result of which they may have extra chromosomes, or, conversely, there may not be enough chromosomes.

At the same time, cells with wrong number chromosomes are attached to a normal egg or sperm, resulting in the resulting embryo has chromosomal abnormalities.

The most common type chromosomal abnormality called trisomy. This means that instead of having two copies of a particular chromosome, a person has three copies. For example, they have three copies of the 21st chromosome.

In most cases, an embryo with the wrong number of chromosomes does not survive. In such cases, a woman has a miscarriage, usually in the early stages. This often happens very early in pregnancy, before a woman can even realize she is pregnant. More than 50% of miscarriages in the first trimester are caused by chromosomal abnormalities in the embryo.

Other errors may occur before fertilization. They can lead to a change in the structure of one or more chromosomes. People with structural chromosomal abnormalities usually have a normal number of chromosomes. However, small pieces of a chromosome (or an entire chromosome) may be deleted, copied, flipped, misplaced, or exchanged with part of another chromosome. These structural rearrangements may not have any effect on a person if he has all the chromosomes, but they are simply rearranged. In other cases, such rearrangements can lead to pregnancy loss or birth defects.

Errors in cell division can occur shortly after fertilization. This can lead to mosaicism, a condition in which a person has cells with different genetic sets. For example, people with a form of mosaicism, Turner syndrome, lack an X chromosome in some, but not all, cells.

Diagnosis of chromosomal abnormalities

Chromosomal abnormalities can be diagnosed before the baby is born by prenatal tests such as amniocentesis or chorion biopsy, or after birth by a blood test.

The cells resulting from these tests are grown in a laboratory and then their chromosomes are examined under a microscope. The laboratory makes an image (karyotype) of all human chromosomes, arranged in order from largest to smallest. A karyotype shows the number, size, and shape of chromosomes and helps doctors identify any abnormalities.

The first prenatal screening consists of taking maternal blood for analysis in the first trimester of pregnancy (between 10 and 13 weeks of pregnancy), as well as a special ultrasound examination of the back of the baby's neck (the so-called collar space).

The second prenatal screening is carried out in the second trimester of pregnancy and consists of a maternal blood test between 16 and 18 weeks. This screening allows you to identify pregnancies that are at higher risk for the presence of genetic disorders.

However, screening tests cannot accurately diagnose Down syndrome or others. Doctors suggest that women who have abnormal screening test results undergo additional tests, such as chorionic biopsy and amniocentesis, to definitively diagnose or rule out these disorders.

The most common chromosomal abnormalities

The first 22 pairs of chromosomes are called autosomes or somatic (non-sex) chromosomes. The most common disorders of these chromosomes include:

1. Down syndrome (trisomy 21 chromosomes) - one of the most common chromosomal abnormalities, diagnosed in about 1 in 800 babies. People with Down syndrome have varying degrees mental development, character traits face and, often, congenital anomalies in the development of the heart and other problems.

Modern prospects for the development of children with Down syndrome are much brighter than they were before. Most of them have mild to moderate intellectual disability. With early intervention and special education Many of these children learn to read and write and participate in various activities from childhood.

The risk of Down syndrome and other trisomies increases with maternal age. The risk of having a child with Down syndrome is approximately:

• 1 in 1300 if the mother is 25 years old;
• 1 in 1000 if the mother is 30 years old;
• 1 in 400 if the mother is 35 years old;
• 1 out of 100 if the mother is 40 years old;
• 1 in 35 if the mother is 45 years old.

2. Trisomy 13 and 18 chromosomes These trisomies are usually more severe than Down's syndrome, but fortunately are quite rare. Approximately 1 in 16,000 babies are born with trisomy 13 (Patau syndrome), and 1 in 5,000 babies are born with trisomy 18 (Edwards syndrome). Children with trisomies 13 and 18 tend to have severe mental retardation and many birth defects. Most of these children die before the age of one.

The last, 23rd, pair of chromosomes are the sex chromosomes, called X chromosomes and Y chromosomes. As a rule, women have two X chromosomes, while men have one X chromosome and one Y chromosome. Sex chromosome abnormalities can cause infertility, growth disorders, and learning and behavioral problems.

The most common sex chromosome abnormalities include:

1. Turner syndrome - This disorder affects approximately 1 in 2500 female fetuses. A girl with Turner syndrome has one normal X chromosome and is completely or partially missing a second X chromosome. As a rule, such girls are infertile and do not undergo the changes of normal puberty unless they take synthetic sex hormones.

Girls affected by Turner syndrome are very short, although treatment with growth hormone may help increase height. In addition, they have a whole range of health problems, especially with the heart and kidneys. Most girls with Turner syndrome have normal intelligence, although they experience some learning difficulties, especially in mathematics and spatial reasoning.

2. Trisomy X chromosome Approximately 1 in 1000 women have an extra X chromosome. These women are very tall. They usually do not have physical birth defects, they have a normal puberty and they are fertile. In such women normal intelligence, but there may be serious problems with study.

Since such girls are healthy and have a normal appearance, their parents often do not know that their daughter has. Some parents find out that their child has a similar deviation if the mother had one of the invasive prenatal diagnostic methods (amniocentesis or choriocentesis) during pregnancy.

3. Klinefelter syndrome - This disorder affects approximately 1 in 500 to 1000 boys. Boys with Klinefelter syndrome have two (or sometimes more) X chromosomes along with one normal Y chromosome. These boys usually have normal intelligence, although many have learning problems. When such boys grow up, they have a reduced secretion of testosterone and are infertile.

4. Y chromosome disomy (XYY) - Approximately 1 in 1,000 males is born with one or more extra Y chromosomes. These men have normal puberty and are not infertile. Most of them have normal intelligence, although there may be some learning, behavioral, and speech and language problems. As with trisomy X in women, many men and their parents do not know they have the anomaly until prenatal diagnosis is made.

Less common chromosomal abnormalities

New methods for analyzing chromosomes make it possible to identify tiny chromosomal pathologies that cannot be seen even under a powerful microscope. As a result, more and more parents are learning that their child has a genetic anomaly.

Some of these unusual and rare anomalies include:

• Deletion - the absence of a small section of the chromosome;
• Microdeletion - the absence of a very small number of chromosomes, perhaps only one gene is missing;
• Translocation - part of one chromosome joins another chromosome;
• Inversion - part of the chromosome is omitted, and the order of the genes is reversed;
• Duplication (duplication) - part of the chromosome is duplicated, which leads to the formation of additional genetic material;
• Ring chromosome - when genetic material is removed at both ends of the chromosome, and the new ends unite and form a ring.

Some chromosomal pathologies are so rare that only one or a few cases are known to science. Some anomalies (for example, some translocations and inversions) may not affect human health in any way if there is no genetic material.

Some unusual disorders can be caused by small chromosomal deletions. Examples are:

• crying cat syndrome (deletion on chromosome 5) - sick children in infancy are distinguished by a cry in high tones, as if a cat is screaming. They have significant physical and intellectual development. With such a disease, about 1 out of 20 - 50 thousand babies is born;
• Prader-Will syndromeand (deletion on chromosome 15) - sick children have mental and learning disabilities, short stature and behavioral problems. Most of these children develop extreme obesity. With such a disease, about 1 out of 10 - 25 thousand babies is born;
• DiGeorge Syndrome (deletion on chromosome 22 or deletion 22q11) - about 1 in 4,000 babies are born with a deletion in some part of chromosome 22. This deletion causes various problems which may include heart defects, cleft lip/palate (cleft palate and cleft lip), immune system disorders, abnormal facial features, and learning problems;
• Wolff-Hirshhorn Syndrome (deletion of chromosome 4) - this disorder is characterized by mental retardation, heart defects, poor muscle tone, seizures and other problems. This disorder affects about 1 in 50,000 babies.

With the exception of people with DiGeorge syndrome, people with the above syndromes are infertile. As for people with DiGeorge syndrome, this pathology is inherited by 50% with each pregnancy.

New techniques for analyzing chromosomes can sometimes pinpoint where genetic material is missing, or where an extra gene is present. If the doctor knows exactly where the culprit is chromosomal abnormality, he can assess the full extent of its influence on the child and give an approximate forecast of the development of this child in the future. Often this helps parents make a decision to continue the pregnancy and prepare in advance for the birth of a slightly different baby.

The frequency of congenital malformations is 2-3%, another 5% of newborns have so-called minor anomalies. Their causative factors are heterogeneous and include chromosomal abnormalities, monogenic diseases, the influence of teratogens, maternal diseases (insulin-dependent diabetes mellitus, phenylketonuria), infections (rubella, cytomegaly, etc.). But most congenital developmental anomalies are multifactorial, i.e. depend on a combination of genetic factors and exposure aggressive factors external environment.

What is prenatal screening

prenatalscreening, diagnosis and treatment is relatively new problem in obstetrics. The beginning of prenatal screening was perhaps the era of ultrasound diagnostics in obstetrics, which began about two decades ago. With the discovery of new genes and their phenotypes, prenatal genetic diagnosis is becoming increasingly possible. It is necessary to distinguish between the concepts of screening and diagnosis.

Prenatal screening identifies individuals at high risk of complications from a population of individuals at low risk of complications. The specificity and sensitivity of screening tests are very important given the potential for false positive and false negative screening results.

Prenatal diagnosis is, of course, more specific than screening (eg, amniocentesis or chorionic biopsy), but carries a greater risk of complications. The first step in determining risk to the fetus is screening the mother for certain conditions or diseases.

Often the question arises about the likelihood of an increase in the frequency in the offspring of couples who received treatment for infertility. Severe oligospermia and azoospermia are associated with balanced chromosome translocations (3-5%), Klinefelter's syndrome (47, XXY), anomalies and microdeletions of the Y chromosome.

Anomalies of the X chromosome (XXY, XXX, X-mosaicism in Turner syndrome) are associated with reduced fertility (subfertility), as well as an increased risk of chromosomal abnormalities in offspring. In 2/3 of patients with congenital absence of the vas deferens, at least one mutation of the gene responsible for the development of cystic fibrosis occurs. So, these patients should be screened for cystic fibrosis. These patients are usually indicated for intracytoplasmic sperm-to-oocyte injection, although the presence of a mutant cystic fibrosis gene may affect reproductive intentions.

Chromosomal abnormalities

Older maternal age is a risk factor for chromosomal abnormalities due to the increased possibility of chromosome nondisjunction during meiosis. Fertilization of a gamete with one extra chromosome leads to the formation of a fertilization product with 47 chromosomes. Consequently, the frequency of aneuploidy increases - the number of chromosomes in the product of fertilization, greater or less than 46. Nondisjunction of chromosomes can occur in autosomes (trisomy 21, 13, 18) or sex chromosomes (monosomy 45, X, or trisomy 47, XVV, 47, XXX and etc). Unbalanced chromosome translocations are accompanied by an abnormal amount of chromosomal material (whole or part of a chromosome). The risk to the child depends on the type of translocation.

Risk factors for the birth of children with chromosomal abnormalities

• Mother's age 35 years and older
• Birth of children with a history of chromosomal abnormalities
• Chromosomal abnormalities in parents, including balanced translocations, aneuploidy, mosaicism
• Chromosomal abnormalities in close relatives
• Abnormal findings on fetal ultrasound anatomy
• Abnormal serum screening test results/abnormal triple test (AFP, estriol)
• Birth of children with a history of neural tube defects

The frequency of chromosomal abnormalities in live newborns is 0.5%, in stillborns - 5%, in abortions with spontaneous miscarriages - 50%. Frequent chromosomal anomaly is aneuploidy - an increase or lack of one chromosome. In live births, the most common chromosomal anomalies are trisomy 21 (1:800), trisomy 18 and trisomy 13.

Trisomy 16 most often results in spontaneous miscarriages, and in the case of trisomy 18, stillbirth occurs in most cases. If there is a history of trisomy in the fetus, the risk of recurrence in a second pregnancy is 1%. In the case of triploidy, spontaneous abortion or gestational trophoblastic disease usually occurs. In rare cases, a child can be born with triploidy, but life expectancy does not exceed 1 year.

Chromosomal abnormalities are often accompanied by marked phenotypic manifestations and congenital malformations, although they are not always detectable by ultrasound screening.

Most exact method diagnosis of chromosomal abnormalities is the study of the fetal karyotype. For some chromosomal syndromes (Down syndrome), there are screening tests, such as the triple test:

1) the level of a-fetoprotein;

3) the level of the hCG β-subunit in the mother's blood serum.

Down syndrome

Screening for genetic diseases

Today, more than 11,000 monogenic diseases are known that are encoded by one gene (genetically determined) and are transmitted from parents to their descendants. The mechanism of transmission of many genetic diseases is explained by Mendel's principles.

Autosomal dominant monogenic syndromes occur with a frequency of 1:200 individuals; the disease is observed in many generations, is transmitted to descendants and recurs with a frequency of 50%. Examples of autosomal dominant monogenic disorders can be:

• achondroplasia,
• neurofibromatosis,
• marfan syndrome,
• Huntington's Disease,
• familial polyposis.

The appearance of autosomal dominant diseases in newborns from "healthy" parents may be due to the following reasons:

1. Mosaicism of germ cells. A mutation can only take place in a population of germ cells. So the parents are unaffected, but can pass the mutation on to their offspring.

2. New mutations. An increase in the age of parents is associated with an increased risk of autosomal dominant disorders (achondroplasia, thanatophoric dysplasia, neurofibromatosis, Apert syndrome - craniosynostosis). The risk of recurrence in other children is not increased.

3. Variable expression. The severity of the disease can vary, and parents may not recognize mild or subclinical mutations.

4. Reduced penetrance. Parents can have the abnormal gene without clinical manifestations diseases.

5. Incorrect paternity. The frequency of incorrect paternity reaches 15%.

Autosomal recessive monogenic diseases manifest in multiple relatives in the presence of two affected alleles. If both parents are carriers of the affected gene, the risk of the disease in the offspring is 25% in each pregnancy. Autosomal recessive diseases include cystic fibrosis, sickle cell anemia, phenylketonuria, Tay-Sachs disease, Canavan disease, and others.

In X-linked recessive syndromes (hemophilia, etc.), the carrier mother of the affected gene passes it on to her sons. So, 50% of sons may be affected and 50% of daughters will be carriers of this gene. Rare X-dominant syndromes can be passed from each parent to each child, similar to autosomal dominant syndromes. The phenotype can vary greatly, which is associated with mixed penetrance, lyonization (heterochromatization) of the X chromosome (fragile X syndrome), and genomic imprinting.

Expansiontrinucleotide repeats. Some genes contain regions of triple repeats (for example, CCC). Such areas are unstable and may increase in subsequent generations, this phenomenon is called anticipation. The number of repetitions determines the degree of damage to the individual. Expansion of trinucleotide repeats is the basis of numerous genetic disorders such as fragile X syndrome, myotonic dystrophy, and Huntington's disease.

Syndromefragile (fragil) X-chromosome is the most common cause of familial mental retardation. Affected men have typical features: large ears, protruding jaw, large testicles, autistic behavior, mild to moderate mental retardation. Women are usually less affected due to X chromosome inactivation.

The fragile X gene is located on the X chromosome and has three nucleotide repeats (CCC). Normal individuals have 6-50 repeats, unaffected female carriers may have 50-200 repeats, which can extend through meiosis to complete mutation if more than 200 repeats are present. If a complete mutation occurs, the gene is inactivated by methylation; fetus will be affected. The severity of the disease depends on the degree of X-inactivation in women, the degree of methylation, and the mosaicism of repeat size.

Female carriers of the premutation have a 50% risk of passing on the expansion gene. Males with the premutation are phenotypically normal, but all their daughters will be carriers of the premutation. In the case of transmission to males, the number of repetitions remains stable. An X-breakdown test is performed to determine the number of repeats and the degree of methylation.

Indications for Fragile X Testing

• Individuals with mental retardation and general development, autism
• Individuals with traits of the fragile X chromosome
• Individuals with a family history of fragile X syndrome
• Individuals with a family history of undiagnosed mental retardation
• Fruits from carrier mothers

Genomicimprinting- a process in which gene activation occurs predominantly in the maternal or predominantly in the parent chromosome, but not in both chromosomes. normal development occurs only if both copies (maternal and paternal) of the imprinting gene are present. The imprinting gene is inactive, which means that the active gene is lost (by deletion) or gets a mutation, in which case the fetus will be affected. Only a few genes can experience imprinting.
Examples of genomic imprinting include Angelman syndrome and complete mole (a variant of gestational trophoblastic disease).

SyndromeAngelman characterized by severe mental retardation, ataxic gait, typical face, paroxysms of laughter and convulsions. The Angelman syndrome gene is only active on the maternal inherited chromosome, so if maternal chromosome 15 is deleted or the maternal copy of the gene is mutated, the protein product will not form and the fetus will be affected.

Angelman syndrome can also develop if both copies of chromosome 15 are inherited from the father (no maternal copy of chromosome 15). This condition is called uniparental disomy. Uniparental disomy occurs more often due to the loss of a chromosome in an embryo with trisomy or the addition of a chromosome in a fetus with monosomy on this chromosome. Each of the chromosomes can be genetically different (heterodisomy) or identical (isodysomy), depending on the time of occurrence of this phenomenon - during the first or second meiotic division, respectively.

Fullhydatidiform mole is usually diploid (46, XX, or X¥), but may be entirely paternal in origin, with no maternal chromosomal material. Under such conditions, the fetus cannot develop. A complete hydatidiform mole may accompany a normal multiple pregnancy, but in this case, the risk of maternal complications (hyperthyroidism, preeclampsia, preterm birth) increases. Unlike total hydatidiform mole, partial hydatidiform mole is usually triploid (69, XXX, 69, XVV), with additional set paternal chromosomes.

Triploidy with an extra set of maternal chromosomes occurs with fetal IUGR, congenital malformations, and a small placenta.

Mitochondrial inheritance

Mitochondria in the cytoplasm of the egg (but not the sperm) are passed from the mother to her offspring. Mitochondria have their own DNA. There are several genetic diseases caused by mutations in mitochondrial DNA - Leber's hereditary optic neuropathy, Lee's disease (subacute necrotizing encephalomyelopathy), myoclonic epilepsy with "jagged red fibers". The expression of these diseases is variable.

Pregnancy is a long-awaited state of a woman. However, this is also a period of worries. After all, the normal course of pregnancy is far from a guarantee that the baby will be born without pathologies. At an early stage, diagnostic measures are necessarily taken to help exclude chromosomal pathologies.

Anomalies of the fetal chromosomal type are the appearance of an additional (extra) chromosome or a violation in the structure of one of the chromosomes. This happens even during fetal development.

So, everyone knows about Down syndrome. This is a disease that develops in utero. It is connected with the appearance of an extra chromosome directly in the 21st pair. Through diagnostics and external manifestations course of pregnancy, such a pathology can be detected even at early stages fetal development.

Causes of chromosomal abnormalities

Chromosomal defects can develop different reasons. Often these are health problems in the mother:

• infections;
• problems with the endocrine system;
• diseases of any internal organs;
• toxicosis during pregnancy;
• previous abortions;
• risk of miscarriage.

An important role is played by ecology, which constantly affects the woman's body, as well as environmental features:

An important hereditary factor. Gene mutations, chromosome aberrations - common causes development of anomalies.

Already when planning pregnancy, you need to think about a balanced diet:

1. All the main ingredients must be present in sufficient quantities on the menu (vitamins, fats, minerals, carbohydrates and proteins).
2. You need to take care of the presence in the menu of products with micronutrients (polyunsaturated fatty acids, trace elements important for the body). Thus, a deficiency of such an element as iodine in the body can lead to a disruption in the development of the brain of an unborn child.

Risk factors

There are many risk factors for developing chromosomal abnormalities. On the part of the mother, these are such problems as:

There are also risks from the fetus:

• developmental delay.
• Multiple pregnancy.
• Anomalies in presentation.

Medications, pregnancy and chromosomal abnormalities

Fetus is affected by many medications that a woman takes during pregnancy:

• aminoglycosides have a toxic effect on the development of the ear and kidneys;
• aloe helps to increase intestinal motility;
• antihistamines can cause tremors and markedly reduce blood pressure;
• androgens - the cause of the development of fetal defects;
• anticoagulants can cause problems with bone formation, as well as encephalopathy;
• atropine is the cause of brain dysfunction;
• belladonna causes tachycardia in the fetus;
• means to reduce pressure significantly reduce the blood flow to the placenta;
• diazepam can harm the appearance of the unborn child;
• corticosteroids inhibit the functional purpose of the adrenal glands, leading to encephalopathy;
• caffeine damages the fetal liver;
• lithium develops heart defects;
• opiates affect brain activity;
• anticonvulsants significantly delay the intrauterine development of the baby;
• tetracyclines lead to skeletal abnormalities.

signs

The process of development of anomalies in the prenatal state has not been sufficiently studied today. That is why the signs of anomalies are considered conditional. Among them:

All these signs can also be the norm for the development of the fetus, subject to a similar feature of the body of the child or mother. As accurately as possible to make sure that chromosomal abnormalities are present, blood tests, invasive techniques and ultrasound will help.

Diagnostics

The main task of diagnostic measures that are prescribed during pregnancy is to identify fetal malformations. Today there is great amount methods to accurately diagnose or exclude the presence of anomalies.

Non-invasive methods:

• Ultrasound is prescribed for the entire pregnancy 3 times (up to 12 weeks, at 20-22 weeks and 30-32 weeks).
• Determination of biochemical markers in blood serum. HCG, protein A - deviations from the norm may indicate an ectopic pregnancy or the development of chromosomal disorders. Alpha-fetoprotein - reduced level indicates a risk of developing Down syndrome, and elevated level talk about the possible defect of the central nervous system. Estriol - normally should gradually increase with increasing gestational age.

Invasive techniques:

Already after the birth of a child, any methods from the arsenal of modern medicine can be used to determine anomalies:

• radiation methods (CT, CTG, X-ray, ultrasound);
• endoscopic;
• research of biological materials;
• functional tests.

Possible pathologies

The development of many anomalies is observed in specific periods of pregnancy:

• 3 weeks - ectopia of the heart, absence of limbs, as well as fusion of the feet;
• 4 weeks - no feet, hemivertebra;
• 5 weeks - splitting of the bones of the face, as well as such terrible problems as the absence of hands, feet;
• 6 weeks - complete absence mandible, as well as heart disease, lens cataract;
• 7 weeks - the absolute absence of fingers, the development of a round head, an irreparable splitting of the palate from above, as well as epicanthus;
• 8 weeks - absence of nasal bone, shortening of fingers.

The consequences of the development of chromosomal problems are very diverse. It can be not only external deformities, but also lesions, disorders of the central nervous system. The resulting pathologies depend on what kind of chromosome anomaly occurred:

1. If violated quantitative characteristic chromosomes, Down syndrome may occur (in 21 pairs there is one extra chromosome), Patau syndrome (a severe pathology with numerous defects), Edwards syndrome (often appears in children of elderly mothers).
2. Violation of the number of sex chromosomes. Then the development of the Shereshevsky-Turner syndrome is likely (development of the sex glands according to the wrong type), polysomy is characterized different problems, Klinefelter's syndrome (violations in boys on the X chromosome).
3. Polyploidy usually ends in death in the womb.

Gene mutations are not yet fully understood by scientists. The reasons for their development are still being investigated by experts. But already in 5% of all pregnant women in the world, genetic abnormalities of the fetus are detected.

Preschool education

Primary general education

Art therapy for children with disabilities

Therapy for children with handicapped requires a careful and sensitive approach. It is provided by the art therapy method, which, through artistic activity, gives the child a comfortable emotional well-being and improved psychological health. For a child, as the great Russian teacher K.D. Ushinsky, "thinks in forms, colors, sounds, sensations in general."

Art therapy is treatment with art, creativity. (the term was introduced by A. Hill). Its psycho-correctional goal is a therapeutic effect in solving internal problems. psychological conflicts, problems of communication and socialization of children with disabilities. This method of treatment is used for problems of emotional and personal development, incl. autism, mental retardation, speech, hearing, vision, motor function disorders.

Art therapy solves the following tasks:

• awakens vitality, activates internal resources, including memory and performance.


• Creates new motives, attitudes, fixing them in real life through works of art.


• Develops cognitive and emotional spheres, Creative skills.


• Compensates for missing features.


• Helps develop interpersonal communication skills.


• Establishes inner integrity and communication with oneself.


• Optimizes personal qualities.


• Provides social adaptation.


• In general, it helps to live with dignity.

The mechanism of action of art therapy

The essence of the action of art therapy is described in works on neurophysiology by K. Hannadorf, T.G. Vizil, O.A. Scriabina, O.A. Motantseva. figurative perceiver right hemisphere processes information in its entirety, globally, and it is associated with rhythm, emotions, intuition, movements, in general, with the unconscious mental processes. Developing first, it dominates until the age of seven.

The left, rational-logical hemisphere acts as a performer, providing analysis and synthesis of the received information (with transposed hemispheres, the opposite happens).
The hemispheres in the center are connected by the corpus callosum - the node nerve endings. The corpus callosum provides the interaction of nerve endings. The quality, clarity and integrity of thinking depends on this process.

With a defect in the functions and systems of the body, art therapy affects the right hemisphere through images, movements and rhythm, creating “healthy” images in it. The corpus callosum carries "images" to left hemisphere and forms neural connections, restoring and establishing a more healthy process of the child's brain. The result is gentle treatment and correction of the defect.

Types of psychotherapeutic techniques

Methods and techniques of art therapy are divided into auxiliary and therapeutic, active and passive, group and individual.

• Auxiliary- psychodrama, artistic and creative activities (isotherapy, music therapy, work with clay, sand therapy, maskotherapy.), bibliotherapy.


• Therapeutic- fairy tale therapy, game therapy, color therapy.

All methods are safe, environmentally friendly and affordable. They are used by psychologists in art therapy classes and by parents themselves.

Active methods:

• independent creativity to create a creative product;
• independent creativity based on the use of existing works of art.

It can be drawing, modeling, working with sand, singing, dancing. All these activities develop creativity, creative activity, imagination, speech, fine motor skills, aesthetic sense. Active activities strengthen the body physically by activating well-functioning, healthy systems in the child's body. Passive methods include the analysis and interpretation of works of art by the child.

Isotherapy. Active individual technique “Drawing therapy “Landscapes of a child's soul”.
Target- activation of the healing potential of the child himself. Very effective for children with mental retardation.

Assumes weekly drawing for 30-40 minutes for 3 months. The teacher gives the child an A4 sheet and a simple pencil, then explains the essence creative work: “We will draw and talk with you. You can draw and talk about anything. I will keep your drawings in a separate folder with your name. When this work is completed, I will give the folder to you ”(you need to show the child a folder that he can color if he wants). Then he suggests: “Draw a picture that depicts a story.” The child is drawing. The teacher then asks the following questions:

• "Is this drawing depicting some kind of story?"


• "Can you tell me what's going on in this picture?"


• "Does the drawing have a title?"


• "What events precede this drawing?"


• "What happens next?"


• What were you thinking about when you were painting?

The drawings are not interpreted.

Result: In conversation, the process of understanding the events of the surrounding world is being established. Through the drawing there is a safe discharge of self-destructive and destructive tendencies. Initiated creative processes, are revealed various abilities, up to the fact that the child comes up with a dance and performs it.

Read also:

Passive group technique "A trip to the museum"

Target- stimulation of thinking processes, self-esteem increase, development of aesthetic perception. It is recommended for correcting the personality of a child with problems in the emotional and communication spheres, as well as with mental retardation.

In the museum, children are invited to look at paintings or sculptures. Then the tasks are given:

• repeat the pose of the sculpture;


• repeat the facial expressions of the sculpture;


• imagine yourself as the hero of the picture;


• come up with dialogues for the characters in the picture;


• talk about the development of the plot of the picture.

Result: provides a powerful incentive for the development creative thinking and emotional sphere The child develops the ability to express their own thoughts. There is a going beyond the framework of thinking, formed by the mental and physiological characteristics of development, as well as an increase in self-esteem and the development of aesthetic feelings.

An example of healing art therapy

Color therapy. primary goal- health care. Application certain color through the effect on the brain of photons of light of various lengths, it normalizes muscle tone, neutralizes negative emotional states, stimulates the intellect, cognitive activity, communication skills. Since the zones of the iris are connected through the brain with all internal organs, color therapy heals speech, hearing, musculoskeletal system. Here are her simple but very effective tricks:

Active group reception "Game" Magic colors ".
Children are given yellow and blue paint on a palette. Children mix yellow and blue to green.

Result: there is a recovery nervous system, an impetus to the development of internal resources and self-healing.

Active individual technique "Game "Magic Veils".
Recommended for children with emotional and speech problems.
Target- development of speech skills, imagination, health saving. To play, you need a set of transparent scarves in pastel and rich colors that match the color spectrum. Depending on the psycho-emotional state of the child, the teacher offers him a scarf of a certain color. The child and the teacher cover themselves with a scarf, for example, orange, which improves mood. Under the coverlet, they sit opposite each other, holding hands, "eye to eye." The teacher invites the child to go to an orange fairy tale and talks with him on the topic appropriate to the moment in a quiet, “bewitching” voice.

Result: corrected psycho-emotional state. Develop visual, auditory, speech skills. Develops internal control and management of feelings.

General results of the corrective impact of art therapy:

• A positive emotional state is created.


• Improves mental health.


• The process of communication with peers and adults is facilitated.


• Relationships of mutual acceptance and empathy are created and developed.


• Suppressed thoughts and emotions are worked out and, as a result, self-destructive and destructive tendencies are safely discharged.


• Worked out real problems and fantasies that are difficult to deal with verbally.


• Imagination, aesthetic experience, creative self-expression develops.


• Increased adaptive capacity.


• Fatigue is reduced and a sense of inner control develops.

The effectiveness of art therapy is manifested in the correction of deviations and disorders of personal development, in the use of internal resources of children with disabilities, especially the mechanisms of self-regulation and self-healing. It helps the child to feel needed, to learn good things about himself, to develop good relationships with people and the world around him. Skills acquired during art therapy, after its completion, orient the child to remain creative personality who wants to live in harmony with himself and society.