Down syndrome - causes, treatment and complications of Down syndrome. Possible complications of chorionic villus biopsy. Harm of prenatal diagnosis

How often, after the birth of a child, we hear “The baby has his mother’s eyes” or “The child takes after his father.” We are accustomed to the fact that parents genetically pass on their external features, eye and hair color, to their baby. birthmarks and even character and habits. But besides this, parents can pass on a lot of different genetic diseases to their baby. IN Lately, parents who are serious about planning a pregnancy.

Can I give birth to a child with Down syndrome?

Tell me, can I give birth to a child with Down syndrome? I already have 1 healthy child, but there are fears that the second baby will be born sick. My aunt’s second child was born with this pathology.

Down syndrome is not hereditary pathology. The fact that one of your relatives has been diagnosed is not a predisposing factor in the development of the disease in your unborn baby.

Is Down syndrome inherited?

Each gene in our body contains unique DNA - deoxyribonucleic acid. Moreover, each gene carries a kind of code for a specific trait. The genes of the father and mother are combined in pairs, and one gene in the pair can be suppressive (dominant), the other suppressed (recessive). If a mother or father carries a pathological gene, then it will certainly be passed on to the child. Moreover, if only the mother or only the father is the carrier of the diseased gene, then the risk is reduced by half compared to if both parents carry this diseased gene.

Risk of inheriting diseases

Agenesis or hypoplasia of the kidney (absence or underdevelopment of one kidney) is a congenital malformation genitourinary system. Quite often it is combined with other disorders of organ formation (duplication of the uterus, vagina, etc.). The reasons for this are different. Among which we can distinguish internal (hormonal disorders, heredity, etc.) and external factors(viral infections, exposure to ionizing radiation and various toxic substances).

Down syndrome - causes, treatment and complications of Down syndrome

Down syndrome (disease) is a chromosomal disorder that causes lifelong mental retardation and other severe health problems.

Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair is inherited from the father, the other from the mother. Down syndrome occurs when one of three cell division abnormalities occurs in which extra genetic material is attached to chromosome 21.

Down syndrome: causes, signs, diagnosis

Down syndrome was first described by the famous British physician John Langdon Down, who began his research work in 1882 and publicly published its results in 1886.

This is one of those pathologies that every person has an idea about. This disease is especially worrying for expectant mothers who are warily awaiting their first screening. According to data from recent decades, this pathology occurs in every 700 babies born.

Down syndrome

Many couples find it helpful to find out whether the baby will have Down syndrome before it is time to give birth. Children with Down syndrome require additional medical care depending on their specific health problems.

Most people with Down syndrome live into their 60s, and some live longer. Conditions such as heart disease can affect the life expectancy of these children and adults.

We create a document whether Down syndrome is inherited

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Herbal medicine, folk recipes, experience in treating diseases

Dear visitors! We remind you that self-medication can sometimes be extremely dangerous, especially if you do not know the exact diagnosis. If possible, do not ignore official medicine, especially its diagnostic capabilities. With medicine, not everything is as bad as it sometimes seems!

Down syndrome is not hereditary disease and is not passed on from one generation to another. This disease is an autosomal abnormality.

Down syndrome- the most common chromosomal pathology. It occurs when, as a result of a random mutation, another chromosome appears in the 21st pair. Therefore, this disease is also called trisomy 21.

What does this mean? Every cell in the human body has a nucleus. It contains genetic material that determines the appearance and function of an individual cell and the entire organism as a whole. In humans, 25 thousand genes are assembled into 23 pairs of chromosomes, which in appearance resemble rods. Each pair consists of 2 chromosomes. In Down syndrome, the 21st pair consists of 3 chromosomes.

The extra chromosome causes characteristic symptoms in people: a flat bridge of the nose, Mongoloid eyes, a flattened face and back of the head, as well as developmental delays and reduced resistance to infections. The collection of these symptoms is called a syndrome. It was named after the physician John Down, who was the first to undertake its research.

The outdated name for this pathology is “Mongolism.” The disease was called so because of the Mongoloid shape of the eyes and a special fold of skin that covers the lacrimal tubercle. But in 1965, after Mongolian deputies appealed to the World Health Organization, this term is not officially used.

This disease is quite ancient. Archaeologists have found a burial place that is one and a half thousand years old. The structural features of the body indicate that the person suffered from Down syndrome. And the fact that he was buried in the city cemetery according to the same customs as other people indicates that the patients did not experience discrimination.

Babies born with 47 chromosomes are also called “Children of the Sun.” They are very kind, affectionate and patient. Many parents raising such children claim that their children do not suffer from their condition. They grow up cheerful and happy, they never lie, do not experience hatred, and know how to forgive. Parents of such babies believe that the extra chromosome is not a disease, but a feature. They are against children being called down or mentally ill. In Europe, people with Down syndrome study at regular schools, get a profession, live independently or start a family. Their development depends on individual abilities, whether the child was trained and what methods were used.

Prevalence of Down syndrome. One such child is born for every 600-800 newborns, or 1:700. But for mothers over 40 years old, this figure reaches 1:19. There are periods when there is an increase in the number of children with Down syndrome in certain areas. For example, in the UK over the past decade this figure has increased by 15%. Scientists have not yet found an explanation for this phenomenon.

In Russia, 2,500 children with Down syndrome are born every year. 85% of families refuse such babies. Although in Scandinavian countries parents do not abandon children with this pathology. According to statistics, 2/3 of women have an abortion after learning that the fetus has chromosomal abnormalities. This trend is typical for countries of Eastern and Western Europe.
A child with trisomy 21 can be born into any family. The disease is equally common on all continents and in all social strata. Children with Down syndrome were born into the families of Presidents John Kennedy and Charles de Gaulle.

What parents of children with Down syndrome need to know.

1. Despite the delay in development, children are teachable. With the help of special programs, it is possible to increase their IQ to 75. After school, they can get a profession. Even higher education is available to them.
2. The development of such children proceeds faster if they are surrounded by healthy peers and raised in a family rather than in a specialized boarding school.
3. “Children of the Sun” are strikingly different from their peers in their kindness, openness, and friendliness. They are capable of sincere love and can create families. True, their risk of giving birth to a sick child is 50%.
4. Modern medicine can increase life expectancy to 50 years.
5. Parents are not to blame for their child's illness. Although there are age-related risk factors, 80% of children with Down syndrome are born to absolutely healthy women aged 18-35 years.
6. If your family has a child with Down syndrome, then the risk that the next baby will have the same pathology is only 1%.

Causes of Down syndrome

Thus, maternal illnesses during pregnancy, stress, bad habits parents, poor nutrition, difficult childbirth cannot affect the appearance of Down syndrome in a child.

The mechanism of occurrence of chromosomal pathology. A special protein is to blame for the fact that one of the germ cells contains an extra chromosome. Its function is to stretch the chromosomes towards the poles of the cell during division, so that as a result each of the daughter cells receives one chromosome from the pair. If on one side the protein microtubule is thin and weak, then both chromosomes from the pair are pulled to the opposite pole. After the chromosomes in the mother cell have separated to the poles, a shell is formed around them, and they turn into full-fledged germ cells. With a protein defect, one cell carries a set of 24 chromosomes. If such a germ cell (male or female) is involved in fertilization, then the offspring develops Down syndrome.

Mechanism of developmental disorder nervous system with Down syndrome. The “extra” chromosome 21 causes peculiarities in the development of the nervous system. These deviations underlie mental and mental development delays.

• Cerebrospinal fluid circulation disorders. In the choroid plexuses of the ventricles of the brain, an excess amount is produced, and absorption is impaired. This leads to an increase intracranial pressure.
• Focal damage to the brain and peripheral nerves. These changes cause problems with coordination and movement and inhibit the development of gross and fine motor skills.
• The cerebellum is small in size and does not perform its functions sufficiently. As a result, characteristic symptoms appear: weakened muscle tone, it is difficult for a person to control his body in space and control the movements of his limbs.
• Cerebral circulation disorders. Due to ligament laxity and instability cervical region the spine is pinched blood vessels, ensuring the functioning of the brain.
• Reduction in brain volume and an increase in ventricular volume.
• Reduced activity of the cerebral cortex– occurs less nerve impulses, Which manifests itself in lethargy, slowness, and a decrease in the speed of thought processes.

• Marriages between close relatives. Close relatives are carriers of the same genetic pathologies. Therefore, if two people had defects in the 21st chromosome or the protein responsible for the distribution of chromosomes, then their child has a high probability of Down syndrome. Moreover, the closer the degree of relationship, the higher the risk of developing genetic pathology.

• Early pregnancies under 18 years of age.
  In young girls, the body is not yet fully formed. The gonads may not function stably. The processes of egg maturation often fail, which can lead to genetic abnormalities in the child.

• Mother's age is over 35 years.
  Throughout life, eggs are exposed to various harmful factors. They negatively affect genetic material and can disrupt the process of chromosome division. Therefore, after 35 years to the expectant mother It is necessary to undergo medical genetic counseling in order to determine genetic pathologies in the child before birth. The older the woman, the higher the risk to the health of her offspring. Thus, after 45 years, 3% of pregnancies end in the birth of a child with Down syndrome.
• Father's age is over 45 years.
  As men age, the process of sperm formation is disrupted and the likelihood of abnormalities in the genetic material increases. If a man at this age decides to become a father, then it is advisable to first do a test to determine the quality of sperm and undergo a course of vitamin therapy: 30 days of taking vitamin E and minerals.
• The age of the maternal grandmother at the time she gave birth to the child.
  The older the grandmother was when she was pregnant, the greater the risk for her granddaughters. The fact is that all the mother’s eggs were formed during intrauterine development. Even before a woman is born, she already has a lifelong supply of eggs. Therefore, if the grandmother’s age exceeded 35 years, then there is a high risk that the mother of the sick baby will have an egg with the wrong set of chromosomes.
• The parents are carriers of the translocation of the 21st chromosome.
  This term means that in one of the parents a section of the 21st chromosome is attached to another chromosome, most often to the 14th. This feature does not manifest itself in any way externally and the person does not know about it. But such parents have a significantly increased risk of having a child with Down syndrome. This phenomenon is called “familial Down syndrome”. Its share among all cases of the disease does not exceed 2%. But all young couples who have a child with the syndrome are examined for the presence of translocations. This helps determine the risk of developing genetic disorders in subsequent pregnancies.

Signs and symptoms of Down syndrome during pregnancy

Screening for genetic abnormalities during pregnancy

First, let's look at non-invasive examination methods. They do not require disruption of the integrity of the amniotic sac in which the baby is located during pregnancy.

Ultrasound

Indications: all pregnant women.

Contraindications: pyoderma (purulent skin lesion).

Interpretation of results. Possible Down syndrome is indicated by:

• Underdeveloped nasal bones. They are shorter than in healthy children or completely absent.
• The width of the fetal nuchal space exceeds 3 mm(normally up to 2 mm). With Down syndrome, the space between the neck bone and the surface of the skin on the fetal neck increases, in which fluid accumulates.
• The humerus and femur are shortened;
• Cysts in the choroid plexus of the brain; the movement of blood in the venous ducts is disrupted.
• The iliac bones of the pelvis are shortened, and the angle between them is increased.
• Coccyx-parietal size(distance from the crown of the fetus to the coccyx) at the first ultrasound is less than 45.85 mm.
• Heart defects - abnormalities in the development of the heart muscle.

• increased bladder;
• rapid fetal heart rate (tachycardia);
• absence of one umbilical artery.

Blood chemistry

1. Human chorionic gonadotropin (hCG) a hormone secreted by the placenta in the body of a pregnant woman.
2. Pregnancy-associated protein A (PAPP-A). This protein is produced by the placenta initial stages pregnancy to suppress the attack of maternal immunity towards the fetus.
3. Free estriol is a female steroid hormone produced in the placenta from a precursor hormone secreted by the fetal adrenal glands.
4. Alpha fetoprotein (AFP)- a protein produced in the liver and digestive system fetus to protect against maternal immunity.

Deadlines:

• First trimester from 10th to 13th week of pregnancy. Blood serum is examined for hCG and PAPP-A. This is the so-called double test. It is considered more accurate than blood testing in the second trimester. Its reliability is 85%.
• Second trimester from 16th to 18th week of pregnancy. The level of hCG, AFP and free estriol is determined. This study was called triple test. Confidence 65%.

• mother's age over 30 years;
• the family has children with Down syndrome;
• have close relatives with genetic diseases;
• serious illness suffered during pregnancy;
• previous pregnancies (2 or more) ended in miscarriages.

Interpretation of results.

Double test results in the first trimester:

• hCG a significant excess of the norm (over 288,000 mU/ml) indicates a genetic pathology, multiple pregnancy, incorrectly set stage of pregnancy.
• RARR-A a decrease of less than 0.6 MoM indicates Down syndrome, a threat of miscarriage or a non-developing pregnancy.

• hCG more than 2 MoM indicates a risk of Down syndrome and Klinefelter syndrome;
• AFP less than 0.5 MoM may indicate that the child has Down syndrome or Edwards syndrome.
• Free estriol less than 0.5 MoM indicates that the fetal adrenal glands are not working enough, which happens with Down syndrome.

Based on the results of ultrasound and biochemical blood tests, a “risk group” is formed. It includes women who may have a child with Down syndrome. Such patients are referred for more precise invasive studies that involve puncture of the amniotic sac. These include amniocentesis, cordocentesis, and chorionic villus biopsy. For women who become pregnant before the age of 35, the study is paid for by the Ministry of Health, provided that the referral was given by a geneticist.

Amniocentesis

Deadlines:

• from 8th to 14th week;
• after the 15th week of pregnancy.

• Ultrasound results indicate the likelihood of Down syndrome;
• the results of biochemical screening indicate chromosomal pathology;
• one of the parents has a chromosomal disease;
• marriage between blood relatives;
• The mother is over 35 years old and the father is over 40 years old.

• acute or chronic diseases of the mother;
• the placenta is located on the anterior abdominal wall;
• the woman has uterine malformations.

Fetal cells are found in the amniotic fluid. They contain all the chromosomes. If a genetic analysis reveals three 21st chromosomes, then the probability that the child has Down syndrome is 99%. The test results will be ready in 3-4 days. But if the cells need more time to grow, then you will have to wait 2-3 weeks.

Possible complications of amniocentesis

• The risk of miscarriage is 1%.
• The risk of infection is 1% by amniotic fluid microorganisms.
• After 36 weeks, possible start labor activity. On later any stimulation of the uterus or stress can cause premature birth.

Cordocentesis

Deadlines: the procedure is carried out from the 18th week of pregnancy. Before this, the umbilical cord vessels are too thin to take blood samples. The optimal period is 22-24 weeks.

Indications:

• genetic diseases in parents or their blood relatives;
• there is a child in the family with a chromosomal pathology;
• based on the results of ultrasound and biochemical screening, a genetic pathology was identified;
• mother's age is over 35 years.

Contraindications:

• maternal infectious diseases;
• threat of miscarriage;
• compactions in the uterine wall of the uterus;
• maternal bleeding disorder;
• bloody issues from the vagina.

Umbilical cord blood contains cells that carry the chromosome set of the fetus. The presence of three chromosomes 21 indicates Down syndrome. The reliability of the study is 98-99%.

Possible complications of cordocentesis the risk of complications is less than 5%.

• slow fetal heart rate
• bleeding from the puncture site;
• hematomas on the umbilical cord;
• premature birth in the third trimester;
• inflammatory processes that can lead to miscarriage.

Chorionic villus biopsy

Deadlines: 9.5-12 weeks from the beginning of pregnancy.

Indications:

• the age of the pregnant woman is over 35 years;
• one or both parents have genetic or chromosomal pathologies;
• diagnosed during previous pregnancies chromosomal diseases in the fetus;
• According to the screening results, there is a high risk of developing Down syndrome.

• acute infectious diseases or chronic diseases in the acute stage;
• bleeding from the vagina;
• cervical weakness;
• threat of miscarriage;
• adhesive process in the pelvis.

Cells taken from the chorion contain the same chromosomes as the fetus. A laboratory assistant studies chromosomes: their number and structure. If three chromosomes of the 21st pair are detected, the probability of Down syndrome in the fetus is close to 99%.

Possible complications of chorionic villus sampling

• spontaneous termination of pregnancy with a puncture through the abdominal wall, the risk is 2%, through the cervix up to 14%;
• pain at the site where the sample was taken;
• inflammation of the membranes of the fetus - chorioamnionitis;
• hematoma at the site of sampling.

Signs and symptoms of Down syndrome in a newborn

Signs and symptoms of Down syndrome in children and adults

How does a child with Down syndrome develop?

The state and public organizations provide comprehensive assistance to such families:

• Local pediatrician. This person is responsible for your baby's health after leaving the maternity hospital. The doctor will tell you how to care for your baby and give you a referral for examination. Be sure to consult your doctors and take the necessary tests. This will help to promptly identify concomitant pathologies and begin treatment in a timely manner. After all various diseases may aggravate mental and physical development delays.
• Neurologist. This specialist monitors the development of the nervous system and will tell you how to help the child. He will prescribe medications, massages, physical therapy and physical therapy techniques for stimulation proper development.
• Oculist will help to promptly identify vision problems that occur in 60% of children with Down syndrome. At an early age, it is impossible to determine them on your own, so do not miss a visit to this specialist.
• ENT checks the child's hearing. These disorders can make speech and pronunciation problems worse. The first sign of hearing problems is that the child does not flinch from a sharp loud sound. The doctor will conduct an audiometric examination and determine whether your hearing is impaired. The adenoids may need to be removed. This operation makes it easier to breathe through the nose and keep the mouth closed.
• Endocrinologist reveals disturbances in the functioning of the endocrine glands, especially the thyroid. Contact him if your child begins to get better, lethargy, drowsiness increase, feet and palms are cold, temperature is below 36.5, constipation becomes more frequent.
• Speech therapist. Classes with a speech therapist will help minimize problems with pronunciation and speech.
• Psychologist. Helps parents accept the situation and love their baby. In the future, weekly sessions with a psychologist will help the child develop properly and improve his skills. The specialist will tell you which methods and programs are more effective and suitable for your child.
• Rehabilitation center for people with Down syndrome, Down Syndrome Association. Public organizations provide comprehensive assistance to families: pedagogical, psychological, medical and help resolve social and legal issues. For children under one year of age, home visits are provided by specialists. Then you and your child will be able to attend group classes and individual consultations. In the future, associations help adults with Down syndrome adapt to society.

1. Early Educational Assistance Program "Little steps", which is recommended Russian Ministry education. Australian authors Petersi M and Trilor R specifically developed it for children with developmental disabilities. The program describes step-by-step and in detail exercises that relate to all aspects of development.
2. Montessori system The system of early child development developed by Maria Montessori provides excellent results for the development of children with developmental delays. Thanks to an individual approach, it allows children, in some cases, to even outperform their peers with normal development.

Strengths of children with Down syndrome

• Good visual perception and attention to detail. From the first days, show your child cards with objects and numbers and name them. Thus, learn 2-3 new concepts per day. In the future, learning will also be based on visual aids, signs, and gestures.
• They learn to read quite quickly. They can learn the text and use it.
• Ability to learn from the example of adults and peers, based on observation;
• Artistic talents. Children love to dance, sing, write poetry, and perform on stage. Therefore, art therapy is widely used for development: drawing, wood painting, modeling.
• Sports achivments . Athletes with the syndrome show excellent results at the Special Olympics. They are successful in the following sports: swimming, gymnastics, running.
• Empathy– understanding the feelings of other people, willingness to provide emotional support. Children perfectly capture the mood and emotions of those around them and subtly sense falsehood.
• Good computer skills. Computer skills can become the basis of a future profession.

Features of the physical development of a child with Down syndrome

In the first year of life, the lag is significantly less than in subsequent stages of life. Development is delayed only by 2-5 months. In addition, all functions depend on one another. For example: you taught your child to sit. This leads to other skills - the baby manipulates toys while sitting, which develops motor skills (motor activity) and thinking.

Massage and gymnastics the best way to strengthen muscles and increase their tone. Massage is given to children over 2 weeks old and weighing more than 2 kg. Every month and a half it is necessary to take massage courses. There is no need to constantly contact massage therapists. You can do the massage yourself. IN in this case maternal massage is as effective as a professional one.

Massage technique

• Movements should be light, stroking. Too much strong pressure can weaken the baby's already thin muscles.
• Your hand should slide over the baby's body. His skin should not stretch or move.
• Pay special attention to your hands and forearms. Here are the reflex zones that are responsible for speech.
• Facial massage helps to make facial expressions richer and improve the pronunciation of sounds. Stroke with your fingertips from the back of the nose to the ears, from the chin to the temples. Massage the muscles around your mouth in a circular motion.
• The final stage is to lightly touch your forehead and cheeks with your fingertips. If you do this massage 15 minutes before feeding, it will be easier for the baby to suck.

Remember that massage and gymnastics speed up blood flow and increase the load on the heart. Therefore, if a child has been diagnosed with a heart defect, it is necessary to first obtain permission from a cardiologist.

First smile, still weak and inexpressive, will appear at 1.5-4 months. To call it, look into the baby's eyes and smile at him. If the child smiles back, praise him and caress him. Such a reward will reinforce the acquired skill.

Revitalization complex. The baby will begin to reach out to you and walk at 6 months. Until this moment, many mothers think that the child does not recognize them or does not love them. This is wrong. It’s just that until the baby is six months old, he cannot express his affection due to muscle weakness. Remember that your child loves you like no one else. He needs the love and care of the whole family much more than his peers.

Ability to sit. It is important that the child learns to sit as early as possible. You will understand that he is ready for this when the baby independently rolls over from back to stomach and back, and also holds his head confidently. There is no need to wait for the child to sit up on his own. Due to anatomical features, it will be difficult for him to do this. After all, his peers’ arms are a little longer and stronger, and they use them to lean on and sit down.

A child with Down syndrome begins to sit by 9-10 months. But each baby has its own pace of development and some children sit down only at 24-28 months. The ability to sit makes it possible to manipulate toys, which is very important for the development of the initial form of thinking. When the child began to sit, it was time to independently hold a cracker or bottle, or take food from a spoon. During this period, you can potty train your baby.

Independent movement. A child begins to crawl at one and a half years old, and to walk at two. In the initial stages, you will have to help your child move his legs so that he understands what is required of him. If he puts his legs too wide, try wearing an elastic bandage around his hips.

A child with Down syndrome can learn almost everything that other children can do: gymnastics, playing ball, riding a bicycle. But this will happen a few months later. Show how to move correctly and what movements to make. Celebrate even the slightest success of your child. Be sure to be generous with your praise.

Personality development in Down syndrome

Lack of motivation. It is difficult for such children to imagine the ultimate goal of their actions. It is this image that should encourage activity. Therefore, children are more successful in solving simple one-step problems and get great pleasure from it. Therefore, when working with your child, break the task into simple steps. For example, a child can put one cube on top of another, but he won’t be able to do it if you ask him to immediately build a house.

Autistic disorders found in 20% of children with Down syndrome. They manifest themselves in refusal to communicate and repeated similar actions, a desire for monotony, and attacks of aggression. For example, a child may place toys in a certain order many times in a row, wave his arms aimlessly, or shake his head. A symptom of autism is self-harm, biting. If you notice these signs in your child, contact a psychiatrist.

Cognitive sphere of a child with Down syndrome

Watching TV should not take more than 15 minutes a day. Children with Down syndrome love to watch. Quick change Pictures are harmful to mental health and can cause acquired autism.

Reading It comes quite easily to children. It expands lexicon and improves thinking. The same applies to writing. Some children prefer to give a written answer rather than answer a question orally.

Short-term auditory memory underdeveloped. It is necessary for people to perceive speech, assimilate and respond to it. Memory capacity is directly proportional to speaking speed. People with the syndrome speak slowly and therefore the volume of this memory is very small. Because of this, it is more difficult for them to master speech, and their vocabulary is poorer. For the same reason, it is difficult for them to follow instructions, understand what they read, and count in their heads. It is possible to train short-term auditory memory. To do this, you need to ask the child to repeat the phrases he heard, gradually increasing the number of words to 5.

Visual and spatial memory in children with Down syndrome are not impaired. Therefore, when training, it is necessary to rely on them. When learning new words, show an object or a card with its image. When you are busy, voice what you are doing: “I’m cutting bread,” “I’m washing my face.”

Problems with math. Insufficient short-term memory, low concentration and inability to analyze material and apply theoretical knowledge when completing tasks become a serious obstacle for children. Oral counting suffers especially. You can help your child by offering to use counting material or count familiar objects: pencils, cubes.

In the learning process, rely on your strengths: imitation and diligence. Show your child a sample. Explain what needs to be done, and he will try to complete the task as efficiently as possible.

Children with the syndrome have their own pace. They experience impulses in the cerebral cortex less frequently than others. Therefore, do not rush your child. Believe in him and give him the necessary time to complete the task.

Speech development

Mouth massage. Wrap a piece of clean bandage around your finger and gently wipe the roof of your mouth, the front and back of your gums, and your lips. Repeat this procedure 2-3 times a day. This massage stimulates nerve endings in the mouth, making them more sensitive. In the future, it will be easier for the baby to control his lips and tongue.
Use your thumb and forefinger to close and open your child's lips while playing. Try to do this when he is humming. This way he will be able to pronounce “ba”, “va”.

Name objects and voice your actions.“Now we’ll drink from a bottle! Mom will put on a sweater for you.” Multiple repetition will help the child learn words and associate them with objects.

All activities should be accompanied by positive emotions. Tickle your baby, stroke his arms, pat his legs and tummy. This will stir him up and cause motor activity, which is accompanied by the utterance of sounds. Repeat these sounds after your child. He will be glad that you understand him. This will instill a love of conversation.

Use pictures, symbols and gestures when learning words. For example, you are learning the word car. Show your child a real car and a toy car. Play the sound of the engine and pretend you are turning the steering wheel. The next time you say “car,” remind your child of the whole chain. This will help the child consolidate the term in his memory.

Read to your child. Choose books with bright pictures and developmentally appropriate text. Draw characters from what you read and retell the story together.

Emotional sphere

Most difficult period for parents, this is the first few weeks after diagnosis. Contact a psychologist regional center helping children with special needs. Join a group of parents who are raising children like you. This will help you cope and accept the situation. In the future, the child himself will become your support. After 2 years, children perfectly read the emotions of their interlocutor, pick up on his stress and often make attempts to console him.

Sluggish expression of emotions. During the first few years of life, inexpressive facial expressions do not allow one to look into the baby’s inner world, and problems with speech prevent him from expressing his emotions. Children do not react too actively to what is happening and seem to be half asleep. Because of this, little seems to evoke an emotional response in the child. However, it is not. Their inner world is very subtle, deep and varied.

Sociability. Children with Down syndrome love their parents and the people who care for them. They are very open, friendly and eager to communicate with peers and adults. It is important that the circle of acquaintances is not limited rehabilitation center. Playing with peers without the syndrome will help the child develop faster and feel like a member of society.

Increased sensitivity to stress. People with Down syndrome are characterized by increased anxiety and sleep disorders. In boys, these deviations are more common. Try to protect your child from traumatic situations. If this fails, then distract the baby. Invite him to play, give him a relaxing massage.

Tendency to depression. IN adolescence When children realize that they are different from their peers, depression can set in. Moreover, the higher a person’s intellectual development, the stronger it is. People with Down syndrome do not talk about their depression or plans to commit suicide, although they may commit this act. Depression in them manifests itself in a depressed state, delayed reactions, sleep disturbances, loss of appetite, and weight loss. If you notice alarming symptoms, consult a psychiatrist. He will determine the child’s mental state and, if necessary, prescribe antidepressants.

Irritability and hyperactivity. Explosions of emotions are not associated with Down syndrome. Such outbursts are a consequence of concomitant pathologies and stress caused by social isolation, the condition of the parents, or the loss of the person to whom the child was attached. Following a daily routine will help correct the situation. The child should get enough sleep and eat properly. It is advisable to take additional B vitamins, which normalize the functioning of the nervous system.

Benefits of breastfeeding. Children who are breastfed speak better, develop faster and feel happier. But due to weakness of the mouth muscles, they may refuse to suck. To stimulate the sucking reflex, stroke your baby's cheek or base thumb hands. There are reflex zones here that encourage the baby to continue sucking.

Games

Required elements: nursery rhyme games, finger games (the well-known Magpie-Crow), nurturing gymnastics. When playing, try to make your child laugh. Laughter, this and breathing exercises, and a method for developing will and emotions, and a way to make a child happy.

Natural toys. It is preferable for toys to be made from natural materials: metal, wood, fabric, wool, leather, chestnuts. This helps develop tactile sensitivity. For example, when buying a rattle, wrap a thick woolen thread around its handle. Make a pillowcase from bright fabric for a rustling plastic bag, connect several multi-colored plain silk scarves at the corners. Moving toys are suitable: rotating crib modules, blacksmith toys. Stores sell Montessori toys that are great for educational play.

Musical toys. You should not buy toys with electronic music for your baby. Instead, give him a toy piano, guitar, pipe, xylophone, rattles. With the help of these musical instruments, you can develop your child's sense of rhythm. To do this, play games with musical accompaniment. While listening to fast music, roll the ball together or stomp your feet quickly; while listening to slow music, perform the movements smoothly.

Glove dolls or bi-ba-bo. You put such a toy on your hand and it turns out something similar to a small puppet theater. With the help of bi-ba-bo, you can interest a child, involve him in activities, and calm him down. It has been noticed that in some cases children listen to such dolls better than their parents.

Pathologies that may be detected in a child with Down syndrome

Prevention of Down syndrome

• Contact your doctor promptly for the treatment of various pathologies.
• Lead healthy image life. Active movement improves blood circulation and eggs are protected from oxygen starvation.
• Eat right. Nutrients, vitamins and microelements are necessary to maintain hormonal balance and strengthen the immune system.
• Watch your weight. Excessive thinness or obesity disrupts the balance of hormones in the body. Hormonal imbalances can cause disruption in the maturation of germ cells.
• Prenatal diagnosis(screening) allows you to timely diagnose serious disorders in the fetus and make a decision on the advisability of terminating the pregnancy.
• Plan to conceive in late summer or early fall when the body is stronger and saturated with vitamins. The period from February to April is considered unfavorable for conception.
• Taking vitamin-mineral complexes 2-3 months before conception. They must contain folic acid, vitamins B and E. This allows you to normalize the functioning of the genital organs, improve metabolic processes in germ cells and the functioning of the genetic apparatus.

Down syndrome is a genetic disorder. This genetic disorder is caused by the presence of an extra chromosome. The syndrome includes a combination of birth defects - mental retardation, character traits face, hearing impairment, impaired vision and heart disease.

How common is Down syndrome in children?

Down syndrome is one of the most common genetic birth defects, affecting approximately one in 1,000 children born. In the United States, there are about 350 thousand people with Down syndrome. Women who are over 35 years of age are at high risk of having a child with Down syndrome. Prenatal diagnostics can diagnose or rule out the presence of a disease.

Is Down syndrome inherited?

Most cases of Down syndrome are not inherited. The abnormality usually occurs in eggs, but sometimes occurs in sperm cells. An error in cell division is called nondisjunction, which results in cells with an abnormal number of chromosomes. For example, an egg or sperm may receive an extra copy of chromosome 21. If one of these atypical germ cells contributes to the genetic formation of a child, then it will have an extra 21 chromosome in each of the body's cells. A child with Down syndrome may inherit an extra chromosome from an unaffected parent. A parent may carry a rearrangement of genetic material between the 21st chromosome and another. This rearrangement is called a balanced translocation.

How can Down syndrome affect a child?

All children with Down syndrome have some degree of mental retardation. The degree can fluctuate widely, but is correctly manifested in the mild to moderate range. A child's physical characteristics are not good indicators of the level of mental retardation. Down syndrome creates characteristic facial features, eyes with an upward slant, mouth, nose, and ears can be small. Some children have short necks and small hands with short fingers. As a rule, such children are severely delayed in development; it is difficult for them to learn to walk, talk, and use the toilet. Special education programs are more often recommended, but many children with Down syndrome can learn with their typical peers and even participate in extracurricular activities. Children with Down syndrome most often have other medical problems, including heart problems, vision problems, and hearing.

What treatment is available for children with Down syndrome?

To date, there is no treatment for this diagnosis. However, with early age some specialist interventions as well as special education can help a child born with Down syndrome attend normal school and participate in social activities. Also, adults with Down syndrome live in orphanages, where they work and can engage in creative activities. Some are capable of having a full-fledged family.

Need to test for Down syndrome

For many couples, information about the condition of the baby they are expecting is extremely important and whether there are any serious deviations in its development. One of the pathologies that cause particular concern for future parents is Down syndrome. Children born with this syndrome will need specially qualified medical care throughout their lives.

The presence of characteristic signs that can be noticed already in the first hours of a child’s life allows a qualified doctor to determine the presence of the syndrome in a newborn: slanted eyes with slightly raised corners, insufficiently large head and mouth, protruding tongue, wide palms, short fingers.

The life of a child with Down syndrome is complicated not only by physical abnormalities related to noticeable defects in appearance, but also by serious defects internal organs. There is a significant lag in mental development, which interferes with education and prevents successful intellectual work. Manifestation of timely increased attention parents to this problem will help partially solve it and allow the child to learn reading, writing and participation in social activities. If you have Down syndrome, a person can clean rooms, make toys, knitted items, care for animals and master a number of other activities that do not involve complex actions and quick decisions.

What is Panorama?

Panorama is a DNA screening test that can help you find out important information about your pregnancy.

With this test, you will be able to:

Advantages of Panorama Test:

Approximately 30% of all pregnancies where the fetus has Down syndrome end in miscarriage. Children born alive can live up to 60 years, and sometimes longer, with proper care.

Parents who turn to tests for Down syndrome during pregnancy give themselves the opportunity to make timely decisions on which the well-being of the family will depend. Having received medical confirmation of the presence of chromosomal abnormalities in the fetus, a pregnant woman can terminate the pregnancy at any stage; this will be legal and, from the point of view of many experts, more humane in relation to both the child and the couple. Of course, recognizing pathology and terminating pregnancy at an early stage carries much less harm mother's body.

Of course, there is a certain percentage of families in which termination of pregnancy is out of the question. These people are ready to accept and raise their child in any way. In this case, a prenatal test will be useful in that it will allow future parents to be informed in advance about upcoming difficulties. During pregnancy, they will be able to mentally prepare for changes in their lives, meet with relevant specialists, and find in their city organized groups support for families raising a child with Down syndrome.

Perhaps each of us has seen on the street, in a store or in some institution a fully grown guy or girl with slurred speech and poor coordination. As a rule, such people are accompanied by relatives. Unfortunately, many people in our society have a feeling of strong hostility towards this family and the child in particular. Children with signs of Downism very often cannot receive the right and friendly attitude to yourself. Many of them have to be victims of real cruelty in the form of bullying, ridicule and even pronounced disgust. Fortunately, the world is not without kind and understanding people who mercifully accept a person for who he is, without judging or allowing themselves to glance sideways in his direction.

Excursion into history

A doctor from Great Britain, John Down, after whose name the syndrome was later named, was the discoverer of this pathology and described it back in 1862. The true cause of the disease was revealed only a hundred years later. At the time of John Down's research, the level of development of science was still far from any significant research in the field of genetics. The scientist himself recorded disturbances in the development of mental abilities in patients, so he classified the phenomenon as mental disorder. In the 19th century, most such patients lived at best to 25 years. High level mortality was observed in children and infancy. However, the constant development of medicine has provided various opportunities to minimize the manifestations of many complications leading to rapid death. By the way, in the 19th century, people with this disease were mercilessly killed or sterilized to prevent their numbers from increasing.

In the 20th century, the USA, Nazi Germany and a number of other states initiated special programs to exterminate people who showed symptoms of Down syndrome. It took decades for the situation to change. After years of public protest, lawsuits, and new scientific discoveries that shed light on the phenomenon, cruel eugenics programs were abolished. Today, both a child and an adult with Downism have the opportunity to lead full life and be socially active.

Initially, signs of the disease were discovered in representatives of the Mongoloid race, so scientists initially began to use the name “Mongoloid syndrome.” The term “Mongoloid idiocy” began to be used for another reason: European children with Down syndrome in their appearance resembled representatives of the Mongoloid race with a specific eye shape. Over time, it became obvious that these deviations are not associated with the characteristics of any of the races. Down syndrome can manifest itself regardless of a person’s origin, place of residence, position on the social ladder and a number of other factors. The representatives of the Mongoloid race themselves were not satisfied with the current state of affairs and they insisted on changing the name of the pathology. As a result, under the pressure of public opinion, the World Health Organization in 1965 officially abolished the previous name. The syndrome got its name from the name of John Down.

However, this option could also be rejected. Scientists considered alternative options: trisomy 21, 47XX (or XY). The reason for dissatisfaction with the old name was that the doctor who discovered and described the disease did not have it. Accordingly, there was no reason to use this form of name. However, the phrase “Down syndrome” remains the generally accepted and familiar version of the name. The term “syndrome” became attached to this anomaly because human rights activists believed it was more neutral and fair than the term “disease.”

The first description of the disease did not reveal the exact cause of the disease, so there were completely different versions of its explanation. Later, doctors established a relationship between the mother's age and the risk of giving birth to a sick baby. Based on this, conclusions were drawn about the causes of the disease associated with heredity. The very first name of the syndrome forced the scientific community to take the wrong path and continue to consider the dependence of the disease on race. There were a number of alternative versions, for example, disturbances in the birth process, which supposedly could become the basis for the development of abnormal processes.

Further scientific research finally refuted the existence of a dependence of the risk of the disease on a person’s race and many other factors. For example, with the advent of ultrasound diagnostics and other prenatal screening techniques, it became clear that Down syndrome can be detected in a fetus that is still in the womb. This fact refuted the possibility of pathology arising due to birth trauma.

In the middle of the 20th century, the development of science made it possible to introduce methods for counting the number of chromosomes and assigning them serial numbers and further classification. Thanks to this, in 1959, French pediatrician Jerome Lejeune discovered and proved the connection between abnormalities in the number of chromosomes and the development of Down syndrome.

The essence of the syndrome. Genetic point of view

What is Down syndrome? Why are children born with this syndrome? The answer to these questions can be given by a science such as genetics.

Chromosomes are cell elements that carry genetic information and are responsible for ensuring that the human body carries out its activities in accordance with certain development processes, both individual cells and entire organ systems. The chromosome set of a healthy person is 46 chromosomes, which are combined into 23 pairs. In the scientific community, it is customary to number them in a certain way so that during discussions and research there are no discrepancies. How many chromosomes does a person with Down syndrome have?

Trisomy 21. The vast majority of cases of Down syndrome occur due to the tripling of chromosome 21 (trisomy 21). In other words, in each of the cells of the body there are three copies of a given chromosome, when there should be only two copies. Violation of the correct composition of gene information occurs in the parent organism at the stage of formation of germ cells. In 90% of cases this happens due to malfunctions in the mother’s egg; other cases are explained by the characteristics of the sperm. At the stage of meiosis (cell division), there is a possibility that an error will occur due to which the chromosomes do not move to different poles. The consequence of this will be that the cell contains an excess copy (instead of a set of 23 chromosomes, the cell will contain an increased set of 24 chromosomes). In the case when such a germ cell becomes a participant in the fertilization process, the fetus will have 47 chromosomes instead of 46. Due to such an early appearance, the anomaly affects absolutely all cells of the body.

Mosaic form of the syndrome. Disturbances may also occur at a later stage genetic code, however, the probability of this is extremely low - from 1-2 to 5%. In this case, some of the cells of the embryo will have a normal number of chromosomes, and in some one (or several) an excess number will appear. This cell will subsequently give rise to a clone of cells with an extra chromosome. As a result, some cells in the body will have excess genetic elements, and some will have a normal chromosome set. Mosaic form is the definition given to this anomaly. The severity of the consequences for the body in the case of the mosaic form is not as obvious as in the case of trisomy 21, because changes occur only in certain parts of the body. It is much more difficult to detect the presence of this form of the disease, especially with the help of prenatal diagnostic methods. The severity of clinical symptoms depends on the ratio of the number of normal cells and cells with an abnormal chromosomal complement.

Robertsonian translocation. In this case, the genotype of the patient will not differ from the genotype of a healthy person. Translocation is a type of mutation that involves changes in the structure of chromosomes. In the case of a Robertstonian translocation, chromosome 21 is attached to another chromosome, in most cases to the 14th in the karyotype of one of the parents. IN total number Of cases of diagnosis of Down syndrome, Robertsonian translocations, as the cause of the pathology, account for only 2-3%.

There is a point of view that acquired mutations (irradiation with ionizing radiation and other mutagenic factors) can also cause genetic disorders that contribute to the occurrence of Down syndrome. At the moment, no in-depth research has been carried out on this issue, so it would be wrong to draw clear conclusions about this version of the origin of the pathology.

Features of physical and mental development

Children suffering from downism experience retarded physical and mental development. If you look at photos of children with Down syndrome, then with the naked eye you can notice features of their appearance - an altered shape of the skull and facial proportions:

• a flat face on which the nose, mouth, brow ridges, etc. are faintly prominent;
• almost flat bridge of the nose;
• brachycephaly (too short skull), often accompanied by a flat occiput;
• fold of skin on the neck in newborns;
• developed epicanthus (fold of skin near the corner of the eye).

Some of these characteristics can be seen in an unborn baby on an ultrasound. However, it is impossible to accurately determine the presence of Down syndrome using ultrasound. To do this, the doctor must prescribe more serious research procedures.

There are a number of other modifications in the child’s appearance that can be classified as signs of Downism:

• Small nose.
• Short and wide neck.
• Enlarged eyes, strabismus is common.
• Shortened limbs noticeably do not correspond to the size of the body.
• Short hand length caused by underdeveloped middle fingers.
• Curved shape of the little finger.

The diagnostic signs that determine the presence of downism include the transverse palmar fold; it occurs with a frequency of 45%.

Violation normal functioning systems of the body also generates some external features. In particular, patients often experience joint hypermobility and insufficient muscle tone. These conditions are observed in approximately 80% of cases. Due to the enlarged tongue (macroglossia) and the peculiar structure of the palate, the patient's mouth is always slightly open. The facial muscles are unable to hold the lips closed. In 65% of cases, dental anomalies are detected.

Characteristic features of mental development:

• Noticeable developmental delay. Even with timely comprehensive treatment, developmental delays will become more noticeable with age. The development of mental abilities, in most cases, remains at the level of a seven-year-old child. In rare cases, intelligence reaches a higher level.
• Small vocabulary. In addition to the fact that patients with this anomaly speak slurredly, there is a rather meager set of speech structures used.
• Lack of ability to abstract thinking. It is easier for such children to understand and analyze only what they see directly before their eyes; imagining some situation or imagining is already problematic for them.
• Low concentration. It is difficult for a child to focus on any task; they quickly begin to get distracted.

Down syndrome is practically the only chromosomal abnormality where the diagnosis can be made clinically, that is, based only on external signs. However, in any case, karyotyping will be necessary to determine the form of the syndrome.

Accompanying illnesses

In addition to the presence of Down syndrome itself, patients almost always have a number of other health problems. Carriers of this chromosomal abnormality very often encounter cardiac ailments. Congenital heart defects occur in approximately 40% of cases. Disruption of biological processes also entails the early development of cataracts, which is experienced by two thirds of patients over eight years of age. Down syndrome significantly increases the risk of developing Alzheimer's disease and acute myeloid leukemia. Patients with this pathology often have abnormalities in the digestive tract. Regular examinations by a gastroenterologist and cardiologist are recommended.

Colds, acute respiratory viral infections and pneumonia are regular companions of a patient with Down syndrome. This is due to the body's weakened immune system.

The appearance of an extra chromosome in the body also causes metabolic disorders, which leads to malfunctioning of internal organs (diseases thyroid gland, visual impairment, hearing impairment, etc.).

It should be noted that the results of some studies indicate that people who are carriers of this chromosomal abnormality have a relatively low incidence of malignant tumors in organism. However, the information accumulated to date regarding this medical issue does not allow us to speak with confidence about the reasons for this relationship.

Causes of pathology

Unfortunately, a child with Down syndrome can appear in a family even in very healthy people. Neither the life of the mother or father during pregnancy, nor the environment, nor food affects the appearance of this deviation. Genetics is a complex and, in most cases, unpredictable thing, so it’s hardly worth holding anyone responsible for nature’s decision.

However, it is worth noting several factors that increase the risk of being born into a family of a person with Down syndrome:

Late birth. Unlike young mothers, women over 35 years of age are more at risk of having a sick child.

Transmission of the disease by inheritance

The reasons for the birth of children with Down syndrome sometimes lie in heredity. According to many studies, the syndrome in more than 90% of cases is represented by classic trisomy 21 chromosomes. This form of the disease is not inherited. However, it has been noted that in families where a baby with Down syndrome was born, the likelihood of a chromosomal abnormality occurring in the next child is higher than in the general population.

In the translocation form of the syndrome, a child can inherit the disease from healthy parents. In this case, one of the parents is a carrier of genetic material in which two small chromosomes are linked into one. Such exchanges are called balanced chromosomal rearrangements. During the restructuring process, the amount of genetic material is not changed, so these chromosomal changes most often do not affect the health of the carrier of the restructuring. However, when such genetic material is passed on to the next generation, the rearrangement may become unbalanced. Down syndrome develops when genes from chromosome 21 are unbalanced in the direction of increasing their number.

The mosaic form of the disease does not tend to be inherited. It appears due to random changes in the process of meiosis in the early stages of fetal development. The result of these changes is a state in which some of the cells of the body contain the required two copies of chromosome 21, and in the remaining cells three copies will be observed.

Prevalence of the disease

Down syndrome in newborns occurs in approximately one case per 700-800 births. There is no correlation between the sex of the child and the incidence of disease.

Modern medicine makes it possible to detect this chromosomal abnormality already in the early stages of pregnancy, which explains the following fact - in developed countries, the frequency of births of babies with Down syndrome is slightly lower than in the whole world (approximately 1 case in 1100 births). According to statistics, 92% of women who received unfavorable test results for the presence of pathology terminated their pregnancy. Infants born with Down syndrome were abandoned in the maternity hospital in 94% of cases. It turns out that only 6% of children with this deviation received a chance for a full life and the love of loved ones.

Are genetic disorders treatable?

Unfortunately, the current level of development of medicine does not allow making adjustments to genetic disorders and they remain with a person for life.

The genetic nature of the disease reduces the chances of successfully combating it to a minimum. However, it is likely that methods will still be developed that will allow successful treatment Down syndrome. Experiments carried out by scientists in last years, showed that it is possible to perform a kind of “switching off” of an extra copy of chromosome 21. To implement this action, it is assumed to use the special behavior of the X chromosome, which is responsible for a person’s belonging to female. The male set of chromosomes is known to be XY, and the female set is XX. Scientists have found that in a woman’s body, one of the chromosomes has an inactivated state, and its data are not used in the process of synthesis of protein structures. In fact, it is not a participant in the system of biochemical reactions in the body. This happens due to the production of special substances under the control of a specific section of DNA. These substances coat the surface of the chromosome and thereby block access to it.

Doctors made an attempt to use this mechanism in order to make the third copy of chromosome 21 inactive. Research data show that it is its activity in the production of protein compounds that initiates the appearance of various deviations from developmental norms. To implement the idea, it was necessary to make an extra copy of chromosome 21 similar to the X chromosome. To do this, scientists used a slightly modified section of genetic material that causes inactivation. This section was placed instead of one of the “junk” fragments (a part of DNA not responsible for protein synthesis) in the extra chromosome. After some time, the copy of chromosome 21 treated in this way ceased to be active. The researchers hypothesized that this would compensate for the presence of excess genetic material.

It should be noted that the experiments were carried out only on stem cell cultures, which means that today it is impossible to talk about any effectiveness of the method. In addition, only those people with Down syndrome who have Down syndrome due to trisomy can benefit from this approach. It is impossible to cure the translocation form of the disease in this way: one would have to “switch off” the whole chromosome, and this would definitely bring more harm than good. However, given the rapid progress in the field of genetics and related research, we can say that the method has certain prospects.

Many couples are horrified by the thought that their long-awaited child may have Down syndrome. But there is also a considerable proportion of families who are happy to accept their children as they are. Children with Down syndrome are also able to communicate and love, and they also enjoy playing, drawing and singing. Sometimes such children can surprise their parents and others with their abilities. There is a real story about how a boy with Down syndrome, who arrived at a Swiss institute for the study of children with disabilities, learned to speak flawless Japanese after about 6-7 months. However, it is worth remembering that this case is the exception rather than the rule. Many children with this pathology, even with proper care and attention, cannot adapt to society, and their families experience a huge number of everyday and financial difficulties.

Prenatal diagnosis

Let's take a closer look at the issue of identifying pathology before the birth of a child, in the so-called prenatal period. Many couples wonder: how to identify Down syndrome during pregnancy? Special diagnostic methods have been developed for women expecting a child. They can be divided into two groups: invasive and non-invasive. The first group includes chorionic villus biopsy, cordocentesis and amniocentesis (analysis of amniotic fluid), which require surgical intervention in the form of a puncture. Non-invasive studies are carried out without invading the body and include methods such as ultrasound diagnostics and biochemical screening.

The essence of this method is to collect a small amount of amniotic fluid (amniotic fluid), which contains fetal cells. These cells are used to test for chromosomal abnormalities. To take amniotic fluid, a specialist uses a special needle to create a hole in the fetal membrane. The fruit is not affected in any way. However, the possibility of damage during the procedure still exists. To avoid this, the doctor selects the largest cavity that is free from umbilical cord loops. In rare cases, the method can lead to complications: premature rupture of amniotic fluid, detachment of membranes, infection of the embryo and some other problems. Due to the fact that there are certain risks, the procedure is prescribed only after consultation with a qualified specialist. Women over 34 years of age are not recommended to use amniocentesis, especially if non-invasive methods have not revealed any abnormalities.


Amniocentesis: invasive diagnosis of Down syndrome

This method involves taking a small amount (about 10-15 mg) of the outer membrane of the fetus. The genetic characteristics of this material provide fairly accurate information about the condition of the fetus. To take material, it is necessary to penetrate the instrument into the uterus either through abdominal wall from the front or through the vagina. These manipulations increase the likelihood of complications during pregnancy. For example, the risk of spontaneous abortion will range from 1 to 14%. The method also does not exclude pain, bleeding and injury to the chorion.

Invasive diagnostic methods are highly accurate, however, given the risk of complications, they are not suitable for mass use by all pregnant women, but are carried out only for special indications.

Doctors usually use non-invasive technologies, called screenings, to test for Down syndrome. Screening is a comprehensive study of pregnant women for the presence of chromosomal abnormalities in the fetus. Several signs have been identified that indicate a high risk of having the disease, which can be revealed by fetal ultrasound (absence of the nasal bone, increased thickness of the nuchal space, insufficient length of the femur and humerus, and other features). In combination with ultrasound, a biochemical test of the mother’s blood is performed for hormones such as free beta-hCG and PAPP-A. The obtained data on biochemical markers are analyzed in conjunction with the results ultrasound examination, and the result of the entire screening is a calculation of the risk of having a chromosomal abnormality in the fetus.

Invasive studies are mainly prescribed for those women who have increased risk the possibility that a baby will be born with Down syndrome, for example, to patients whose age exceeds 35 years or with poor results of non-invasive tests: ultrasound and tests. However, when using standard tests for Down syndrome, only 4-5% of women referred for invasive diagnostics actually confirm the presence of the disease. At the same time, false-negative results cannot be excluded, when screening shows a low risk, and the child is born with a chromosomal abnormality.

Not long ago, a new non-invasive research method was developed, which is much more accurate than classical diagnostics (ultrasound and biochemical screening) and is completely safe, unlike invasive techniques. The technique can also be used as a test for Down syndrome during pregnancy. An important advantage of the test is its effectiveness in the early stages: the analysis can be carried out as early as the ninth week of pregnancy. The test is based on the study of fetal DNA fragments that are found in the mother's blood. To collect material for analysis, you simply need to take blood from a vein of a pregnant woman. From the sample taken, the required amount of raw material is isolated for the sequencing procedure. A non-invasive test for chromosomal abnormalities detects Down syndrome in a fetus with an accuracy exceeding 99%.


Non-invasive method for diagnosing Down syndrome

It must be taken into account that none of the diagnostic methods can give a final answer to the question: does the fetus have Down syndrome. Even when using invasive methods, providing recognition accuracy of more than 99%, there are rare cases when false positive results are given, in which a fetus with normal development is identified as sick.

Raising a child with Down syndrome

Parents who are informed that their child has a serious chromosomal pathology and refuse to terminate the pregnancy often overestimate their strength, not realizing how difficult this is for the whole family in general and for the unborn baby in particular.

If a firm decision has been made to leave the pregnancy, the couple must realize that they now have a serious responsibility. You should not deny that a child has abnormalities and consider him normal, because such an attitude can deprive him of necessary medical care. Parents should surround such a child with affection and care no less than other children, because he perfectly feels the attitude towards him.

Children with Down syndrome should be regularly monitored by specialists, take medications prescribed by a doctor, go to special procedures and follow a regimen. Hospital treatment prescribed only when necessary. Often all this costs a lot of money and not every family has the financial means to provide a special child with everything necessary.

Children with Down syndrome experience fast fatiguability, impaired coordination and fine motor skills, retardation in physical and mental development. Parents must be patient and strive to make daily efforts for their child's development. Only in this case will he be able to acquire all the skills necessary for life, even with a delay. There are also rehabilitation programs developed by qualified psychologists and pediatricians that can significantly help in solving the problems of raising special children, but even their use, unfortunately, does little to ease the burden of parents.

Prognosis for families with a sick child

A specialist can give any assumptions regarding the health of future children only based on what form of the syndrome doctors have recorded in the born child. In the case of a typical tripling of chromosome 21 (complete or mosaic) and in the absence of abnormalities in the chromosome set of the parents, the risk value will be no more than 1%.



If one of the parents has a Robertsonian translocation, then the risk of miscarriage during pregnancy will be 50%, and in those pregnancies that continue, the risk of Down syndrome in the embryo will be up to 30%. If two 21 chromosomes are involved in the Robertsonian translocation, then 100% of progressive pregnancies will have Down syndrome.

When inherited from the mother or father, a different translocation form will also slightly increase the risk of the syndrome, but doctors do not have accurate data on this problem. Assessing the probability of the occurrence of a disease is difficult, first of all, because statistical studies of this type are labor-intensive and require long-term observations.

Socialization and integration into society

Children with Down syndrome are sometimes called “sunny children.” This is explained by the fact that they are very friendly, positive and well-wishing, despite possible mood swings and periodic outbursts of aggression. Thanks to the rapid development of medicine and pedagogy, children with Down syndrome now have much more prospects for obtaining an education than they did at the beginning of the 20th century. In those days, the life expectancy of people with this pathology averaged 20-25 years. The influence of this factor did not allow them to devote a sufficient amount of time to mastering certain disciplines. Recent statistical studies on the question “how long do people with Down syndrome live?” They answer that the life expectancy bar has risen to 50 years.



However, improving the standard of living of people with a chromosomal abnormality has not eliminated many problems for both them and their parents. For example, in our country the system of early assistance (from birth to three years) is extremely poorly developed, and it is during this period of the child’s life that parents need to explain how best to deal with the child, what developmental aids to use and what to focus on in order to develop the necessary for life skills. Obtaining preschool and school education will also require serious effort. As sad as it may be, within our country, those suffering from Down syndrome have much fewer conditions promoting personal development than in Europe and the USA. They are unlikely to be accepted into the regular kindergarten or school. There are no mixed groups in educational institutions, which deprives a sick child of fully developing his communication skills.

The attitude towards “sunny” children in Russia is often not nearly as friendly as in Western countries. Society sees them as “not like everyone else”, makes no attempt to perceive them as equals, and sometimes does not even try to hide aggression and disgust towards such people.

Fortunately, parents of such children are increasingly gathering organized groups and organizations that provide psychological support and exchange of educational experiences. Members of these groups fight for the rights of their children to education and social support, sometimes they themselves find funds and teachers. This gives us hope that in the future the attitude towards people with Down syndrome in our society will be more tolerant and respectful.

Family life

Starting a family, like activities in many other areas of life, presents certain difficulties for a person with Down syndrome. Yes, these people can find a mate and get married safely, but with the issue of having offspring, the situation is even more difficult.

Can people with Down syndrome have children? The answer to this question depends, first of all, on the gender of the patient. Men with such genetic pathologies are always infertile. Regarding women, the situation is much less critical. According to scientists, menstruation in patients in many cases is regular and approximately every second woman with Down syndrome is able to bear and give birth to a child. It is worth noting that about 35-50% of children born to such women have various congenital malformations: this could be Down syndrome or a number of other genetic anomalies.

Ethical issues

There are organizations around the world that help people with a chromosomal disorder adapt to life in society. March 21 is World Down Syndrome Day, and there is even a special symbol for the syndrome - a yellow and blue ribbon. However, despite the wide resonance of this phenomenon, the ethical side of the issue has caused many disputes and contradictions for many years. In particular, the topic of abortion is a very sensitive one.

In 2002, in a number of European countries Studies have been conducted that have shown a high percentage of abortions among pregnant women who received positive results of prenatal testing for the presence of Down syndrome in the embryo. In the vast majority of cases (91-93%), married couples made a joint decision to terminate the pregnancy. Further observations showed that during the period from 1989 to 2006 this level was consistently high. Ethicists and a number of medical professionals have expressed concern about this situation and its ethical implications for society. Today, the opinions of experts are divided and there are diametrically opposed points of view on this matter.

Ronald Greene, a medical ethicist, believes that if there is a genetic abnormality in the fetus, it is definitely worth getting rid of it. The head of the Down Syndrome Association, Claire Rayner, shares a similar opinion. Claire Rainer proposes to popularize prenatal diagnosis as much as possible and, in cases where a developmental disorder is detected, to resort to artificial termination of pregnancy. To justify the feasibility of this procedure, a number of reasons are indicated: difficulties with carrying out medical procedures and activities, the inability to provide proper conditions for learning, the difficult process of socialization, the impressive financial costs of maintaining a sick person. Proponents of this position invite parents to honestly answer the question: are they ready to devote their lives to careful care? special child and do they realize that the people around the family will also be involved in a series of worries that are not always pleasant. The life of the child himself will also hardly be called easy, and it is unknown what his fate will be like after his parents are gone.

There is another point of view on the problem of abortion. Many experts have a negative view of the increase in the number of abortions and are extremely concerned about it. There are a number of experts who point out that this approach is almost identical to various eugenic programs for killing and sterilizing patients, which were carried out in the 20th century by some countries and condemned by the civilized world. Followers of this point of view believe that such a view simply devalues ​​human life, because the embryo becomes something like a faulty part in a household appliance or other mechanism, which can be easily thrown out and replaced with another. Unfortunately, abortions in many cases have a serious adverse effect on the mother's body, cause various complications and can even threaten infertility.

After all, no one can say with certainty that a person with Down syndrome is deeply unhappy, unaccepted by society, or lives in endless suffering due to their condition. Considering all these arguments, we can say that there is simply no obvious solution to the problem of ethical disagreements today. Each family must independently choose one or another option, depending on their beliefs and outlook on life.

We must admit that in our country there is insufficient support for people with genetic diseases. A baby with Down syndrome needs regular examinations and consultations with doctors, which will force parents and the child to constantly deal with the imperfections of the healthcare system in Russia, or to invest a huge amount of money in paid medicine. Difficulties in obtaining an education, work, and establishing personal contacts will haunt a person with these deviations all his life.

Termination of pregnancy for medical reasons, which includes Down syndrome, is permitted by law and is carried out at any stage of pregnancy, so you should not blame those parents who decide that they are not ready to take on the harsh test of life and subject their child to it. It will be much safer for a woman if the termination occurs in the early stages of pregnancy. This is why it is very important to undergo timely prenatal diagnosis.

Despite all the difficulties, some families and even public people, such as actress and TV presenter Evelina Bledans, decide to give birth and raise a child with Down syndrome. This step is undoubtedly worthy of respect, but you should look at the situation realistically and correctly assess your moral readiness and financial capabilities. Famous people and wealthy families still have somewhat more opportunities to help such a child adapt to life.

For many couples, information about the condition of the baby they are expecting is extremely important and whether there are any serious deviations in its development. One of the pathologies that cause particular concern for future parents is Down syndrome. Children born with this syndrome will need specially qualified medical care throughout their lives.

The presence of characteristic signs that can be noticed already in the first hours of a child’s life allows a qualified doctor to determine the presence of the syndrome in a newborn: slanted eyes with slightly raised corners, insufficiently large head and mouth, protruding tongue, wide palms, short fingers.

The life of a child with Down syndrome is complicated not only by physical abnormalities related to noticeable defects in appearance, but also by serious defects of internal organs. There is a significant lag in mental development, which interferes with education and prevents successful intellectual work. The manifestation of timely increased attention of parents to this problem will help partially solve it and allow the child to learn reading, writing and participation in social activities. If you have Down syndrome, a person can clean rooms, make toys, knitted items, care for animals and master a number of other activities that do not involve complex actions and quick decisions.

What is Panorama?

Panorama is a DNA screening test that can help you find out important information about your pregnancy.

With this test, you will be able to:

Find out the risk of developing Down syndrome and chromosomal abnormalities

Find out the gender of your unborn child

Advantages of Panorama Test:

Non-invasive and high-frequency method reduces the rate of false-positive results

The Panorama test can be done as early as 9 weeks of pregnancy using blood sampling

Approximately 30% of all pregnancies where the fetus has Down syndrome end in miscarriage. Children born alive can live up to 60 years, and sometimes longer, with proper care.

Parents who turn to tests for Down syndrome during pregnancy give themselves the opportunity to make timely decisions on which the well-being of the family will depend. Having received medical confirmation of the presence of chromosomal abnormalities in the fetus, a pregnant woman can terminate the pregnancy at any stage; this will be legal and, from the point of view of many experts, more humane in relation to both the child and the couple. Of course, recognizing pathology and terminating pregnancy at an early stage causes much less harm to the mother’s body.

Of course, there is a certain percentage of families in which termination of pregnancy is out of the question. These people are ready to accept and raise their child in any way. In this case, a prenatal test will be useful in that it will allow future parents to be informed in advance about upcoming difficulties. During pregnancy, they will be able to mentally prepare for changes in their lives, meet with relevant specialists, and find organized support groups in their city for families raising a child with Down syndrome.

Perhaps each of us has seen on the street, in a store or in some institution a fully grown guy or girl with slurred speech and poor coordination. As a rule, such people are accompanied by relatives. Unfortunately, many people in our society have a feeling of strong hostility towards this family and the child in particular. Children with signs of downism very often cannot receive a correct and friendly attitude towards themselves from society. Many of them have to be victims of real cruelty in the form of bullying, ridicule and even pronounced disgust. Fortunately, the world is not without kind and understanding people who mercifully accept a person for who he is, without judging or allowing themselves to glance sideways in his direction.

Excursion into history

A doctor from Great Britain, John Down, after whose name the syndrome was later named, was the discoverer of this pathology and described it back in 1862. The true cause of the disease was revealed only a hundred years later. At the time of John Down's research, the level of development of science was still far from any significant research in the field of genetics. The scientist himself recorded disturbances in the development of mental abilities in patients, so he classified the phenomenon as a mental disorder. In the 19th century, most such patients lived at best to 25 years. High mortality rates were observed in childhood and infancy. However, the constant development of medicine has provided various opportunities to minimize the manifestations of many complications leading to rapid death. By the way, in the 19th century, people with this disease were mercilessly killed or sterilized to prevent their numbers from increasing.

In the 20th century, the USA, Nazi Germany and a number of other states initiated special programs to exterminate people who showed symptoms of Down syndrome. It took decades for the situation to change. After years of public protest, lawsuits, and new scientific discoveries that shed light on the phenomenon, cruel eugenics programs were abolished. Today, both a child and an adult with Downism have the opportunity to lead a full life and be socially active.

Initially, signs of the disease were discovered in representatives of the Mongoloid race, so scientists initially began to use the name “Mongoloid syndrome.” The term “Mongoloid idiocy” began to be used for another reason: European children with Down syndrome in their appearance resembled representatives of the Mongoloid race with a specific eye shape. Over time, it became obvious that these deviations are not associated with the characteristics of any of the races. Down syndrome can manifest itself regardless of a person’s origin, place of residence, position on the social ladder and a number of other factors. The representatives of the Mongoloid race themselves were not satisfied with the current state of affairs and they insisted on changing the name of the pathology. As a result, under the pressure of public opinion, the World Health Organization in 1965 officially abolished the previous name. The syndrome got its name from the name of John Down.

However, this option could also be rejected. Scientists considered alternative options: trisomy 21, 47XX (or XY). The reason for dissatisfaction with the old name was that the doctor who discovered and described the disease did not have it. Accordingly, there was no reason to use this form of name. However, the phrase “Down syndrome” remains the generally accepted and familiar version of the name. The term “syndrome” became attached to this anomaly because human rights activists believed it was more neutral and fair than the term “disease.”

The first description of the disease did not reveal the exact cause of the disease, so there were completely different versions of its explanation. Later, doctors established a relationship between the mother's age and the risk of giving birth to a sick baby. Based on this, conclusions were drawn about the causes of the disease associated with heredity. The very first name of the syndrome forced the scientific community to take the wrong path and continue to consider the dependence of the disease on race. There were a number of alternative versions, for example, disturbances in the birth process, which supposedly could become the basis for the development of abnormal processes.

Further scientific research finally refuted the existence of a dependence of the risk of the disease on a person’s race and many other factors. For example, with the advent of ultrasound diagnostics and other prenatal screening techniques, it became clear that Down syndrome can be detected in a fetus that is still in the womb. This fact refuted the possibility of pathology arising due to birth trauma.

In the middle of the 20th century, the development of science made it possible to introduce methods for counting the number of chromosomes, assigning serial numbers to them and further classification. Thanks to this, in 1959, French pediatrician Jerome Lejeune discovered and proved the connection between abnormalities in the number of chromosomes and the development of Down syndrome.

The essence of the syndrome. Genetic point of view

What is Down syndrome? Why are children born with this syndrome? The answer to these questions can be given by a science such as genetics.

Chromosomes are cell elements that carry genetic information and are responsible for ensuring that the human body carries out its activities in accordance with certain development processes, both individual cells and entire organ systems. The chromosome set of a healthy person is 46 chromosomes, which are combined into 23 pairs. In the scientific community, it is customary to number them in a certain way so that during discussions and research there are no discrepancies. How many chromosomes does a person with Down syndrome have?

Trisomy 21. The vast majority of cases of Down syndrome occur due to the tripling of chromosome 21 (trisomy 21). In other words, in each of the cells of the body there are three copies of a given chromosome, when there should be only two copies. Violation of the correct composition of gene information occurs in the parent organism at the stage of formation of germ cells. In 90% of cases this happens due to malfunctions in the mother’s egg; other cases are explained by the characteristics of the sperm. At the stage of meiosis (cell division), there is a possibility that an error will occur due to which the chromosomes do not move to different poles. The consequence of this will be that the cell contains an excess copy (instead of a set of 23 chromosomes, the cell will contain an increased set of 24 chromosomes). In the case when such a germ cell becomes a participant in the fertilization process, the fetus will have 47 chromosomes instead of 46. Due to such an early appearance, the anomaly affects absolutely all cells of the body.

Mosaic form of the syndrome. At a later stage, violations of the genetic code may also occur, but the probability of this is extremely low - from 1-2 to 5%. In this case, some of the cells of the embryo will have a normal number of chromosomes, and in some one (or several) an excess number will appear. This cell will subsequently give rise to a clone of cells with an extra chromosome. As a result, some cells in the body will have excess genetic elements, and some will have a normal chromosome set. Mosaic form is the definition given to this anomaly. The severity of the consequences for the body in the case of the mosaic form is not as obvious as in the case of trisomy 21, because changes occur only in certain parts of the body. It is much more difficult to detect the presence of this form of the disease, especially with the help of prenatal diagnostic methods. The severity of clinical symptoms depends on the ratio of the number of normal cells and cells with an abnormal chromosomal complement.

Robertsonian translocation. In this case, the genotype of the patient will not differ from the genotype of a healthy person. Translocation is a type of mutation that involves changes in the structure of chromosomes. In the case of a Robertstonian translocation, chromosome 21 is attached to another chromosome, in most cases to the 14th in the karyotype of one of the parents. In the total number of cases diagnosed with Down syndrome, Robertsonian translocations, as the cause of pathology, account for only 2-3%.

There is a point of view that acquired mutations (irradiation with ionizing radiation and other mutagenic factors) can also cause genetic disorders that contribute to the occurrence of Down syndrome. At the moment, no in-depth research has been carried out on this issue, so it would be wrong to draw clear conclusions about this version of the origin of the pathology.

Features of physical and mental development

Children suffering from downism experience retarded physical and mental development. If you look at photos of children with Down syndrome, then with the naked eye you can notice features of their appearance - a changed shape of the skull and facial proportions:

• a flat face on which the nose, mouth, brow ridges, etc. are faintly prominent;
• almost flat bridge of the nose;
• brachycephaly (too short skull), often accompanied by a flat occiput;
• fold of skin on the neck in newborns;
• developed epicanthus (fold of skin near the corner of the eye).

Some of these characteristics can be seen in an unborn baby on an ultrasound. However, it is impossible to accurately determine the presence of Down syndrome using ultrasound. To do this, the doctor must prescribe more serious research procedures.

There are a number of other modifications in the child’s appearance that can be classified as signs of Downism:

• Small nose.
• Short and wide neck.
• Enlarged eyes, strabismus is common.
• Shortened limbs noticeably do not correspond to the size of the body.
• Short hand length caused by underdeveloped middle fingers.
• Curved shape of the little finger.

The diagnostic signs that determine the presence of downism include the transverse palmar fold; it occurs with a frequency of 45%.

Disruption of the normal functioning of body systems also gives rise to some external features. In particular, patients often experience joint hypermobility and insufficient muscle tone. These conditions are observed in approximately 80% of cases. Due to the enlarged tongue (macroglossia) and the peculiar structure of the palate, the patient's mouth is always slightly open. The facial muscles are unable to hold the lips closed. In 65% of cases, dental anomalies are detected.

Characteristic features of mental development:

• Noticeable developmental delay. Even with timely comprehensive treatment, developmental delays will become more noticeable with age. The development of mental abilities, in most cases, remains at the level of a seven-year-old child. In rare cases, intelligence reaches a higher level.
• Small vocabulary. In addition to the fact that patients with this anomaly speak slurredly, there is a rather meager set of speech structures used.
• Lack of abstract thinking abilities. It is easier for such children to understand and analyze only what they see directly before their eyes; imagining some situation or imagining is already problematic for them.
• Low concentration. It is difficult for a child to focus on any task; they quickly begin to get distracted.

Down syndrome is practically the only chromosomal abnormality where the diagnosis can be made clinically, that is, based only on external signs. However, in any case, karyotyping will be necessary to determine the form of the syndrome.

Accompanying illnesses

In addition to the presence of Down syndrome itself, patients almost always have a number of other health problems. Carriers of this chromosomal abnormality very often encounter cardiac ailments. Congenital heart defects occur in approximately 40% of cases. Disruption of biological processes also entails the early development of cataracts, which is experienced by two thirds of patients over eight years of age. Down syndrome significantly increases the risk of developing Alzheimer's disease and acute myeloid leukemia. Patients with this pathology often have abnormalities in the digestive tract. Regular examinations by a gastroenterologist and cardiologist are recommended.

Colds, acute respiratory viral infections and pneumonia are regular companions of a patient with Down syndrome. This is due to the body's weakened immune system.

The appearance of an extra chromosome in the body also causes metabolic disorders, which leads to malfunctioning of internal organs (thyroid disease, visual impairment, hearing impairment, etc.).

It should be noted that the results of some studies indicate that people who are carriers of this chromosomal abnormality have a relatively low incidence of malignant tumors in the body. However, the information accumulated to date regarding this medical issue does not allow us to speak with confidence about the reasons for this relationship.

Causes of pathology

Unfortunately, a child with Down syndrome can appear in a family even among very healthy people. Neither the life of the mother or father during pregnancy, nor the environment, nor food affects the appearance of this deviation. Genetics is a complex and, in most cases, unpredictable thing, so it’s hardly worth holding anyone responsible for nature’s decision.

However, it is worth noting several factors that increase the risk of being born into a family of a person with Down syndrome:

• Late birth. Unlike young mothers, women over 35 years of age are more at risk of having a sick child.

  Mother's age	Risk level
  from 20 to 24 years old	1 in 5000
  from 25 to 30 years	1 in 1000
  from 35 to 39 years old	1 to 214
  After 45 years	1 to 19

• Father's age. This factor has a lesser influence than the mother's age, but deterioration in sperm quality with age, approximately after 42 years, also increases the risk of genetic defects.
• Marriage between blood relatives. People with similar genetic information are more likely to develop genetic abnormalities.
• Heredity. The risk of inheriting the disease from close relatives is extremely small, but is possible in some types of the syndrome.
• Bad habits. Smoking, alcohol, and drugs abused by future parents can significantly affect their genetic material and the health of the unborn baby.

Transmission of the disease by inheritance

The reasons for the birth of children with Down syndrome sometimes lie in heredity. According to many studies, the syndrome in more than 90% of cases is represented by classic trisomy 21 chromosomes. This form of the disease is not inherited. However, it has been noted that in families where a baby with Down syndrome was born, the likelihood of a chromosomal abnormality occurring in the next child is higher than in the general population.

In the translocation form of the syndrome, a child can inherit the disease from healthy parents. In this case, one of the parents is a carrier of genetic material in which two small chromosomes are linked into one. Such exchanges are called balanced chromosomal rearrangements. During the restructuring process, the amount of genetic material is not changed, so these chromosomal changes most often do not affect the health of the carrier of the restructuring. However, when such genetic material is passed on to the next generation, the rearrangement may become unbalanced. Down syndrome develops when genes from chromosome 21 are unbalanced in the direction of increasing their number.

The mosaic form of the disease does not tend to be inherited. It appears due to random changes in the process of meiosis in the early stages of fetal development. The result of these changes is a state in which some of the cells of the body contain the required two copies of chromosome 21, and in the remaining cells three copies will be observed.

Prevalence of the disease

Down syndrome in newborns occurs in approximately one case per 700-800 births. There is no correlation between the sex of the child and the incidence of disease.

Modern medicine makes it possible to detect this chromosomal abnormality already in the early stages of pregnancy, which explains the following fact - in developed countries, the frequency of births of babies with Down syndrome is slightly lower than in the world as a whole (approximately 1 case in 1100 births). According to statistics, 92% of women who received unfavorable test results for the presence of pathology terminated their pregnancy. Infants born with Down syndrome were abandoned in the maternity hospital in 94% of cases. It turns out that only 6% of children with this deviation received a chance for a full life and the love of loved ones.

Are genetic disorders treatable?

Unfortunately, the current level of development of medicine does not allow making adjustments to genetic disorders and they remain with a person for life.

The genetic nature of the disease reduces the chances of successfully combating it to a minimum. However, it is likely that methods will still be developed that will allow successful treatment of Down syndrome. Experiments carried out by scientists in recent years have shown that it is possible to perform a kind of “switching off” of an extra copy of chromosome 21. To carry out this action, it is supposed to use the special behavior of the X chromosome, which is responsible for a person’s belonging to the female sex. The male set of chromosomes is known to be XY, and the female set is XX. Scientists have found that in a woman’s body, one of the chromosomes has an inactivated state, and its data are not used in the process of synthesis of protein structures. In fact, it is not a participant in the system of biochemical reactions in the body. This happens due to the production of special substances under the control of a specific section of DNA. These substances coat the surface of the chromosome and thereby block access to it.

Doctors made an attempt to use this mechanism in order to make the third copy of chromosome 21 inactive. Research data show that it is its activity in the production of protein compounds that initiates the appearance of various deviations from developmental norms. To implement the idea, it was necessary to make an extra copy of chromosome 21 similar to the X chromosome. To do this, scientists used a slightly modified section of genetic material that causes inactivation. This section was placed instead of one of the “junk” fragments (a part of DNA not responsible for protein synthesis) in the extra chromosome. After some time, the copy of chromosome 21 treated in this way ceased to be active. The researchers hypothesized that this would compensate for the presence of excess genetic material.

It should be noted that the experiments were carried out only on stem cell cultures, which means that today it is impossible to talk about any effectiveness of the method. In addition, only those people with Down syndrome who have Down syndrome due to trisomy can benefit from this approach. The translocation form of the disease cannot be cured in this way: one would have to “switch off” the entire chromosome, and this would definitely do more harm than good. However, given the rapid progress in the field of genetics and related research, we can say that the method has certain prospects.

Many couples are horrified by the thought that their long-awaited child may have Down syndrome. But there is also a considerable proportion of families who are happy to accept their children as they are. Children with Down syndrome are also able to communicate and love, and they also enjoy playing, drawing and singing. Sometimes such children can surprise their parents and others with their abilities. There is a real story about how a boy with Down syndrome, who arrived at a Swiss institute for the study of children with disabilities, learned to speak flawless Japanese after about 6-7 months. However, it is worth remembering that this case is the exception rather than the rule. Many children with this pathology, even with proper care and attention, cannot adapt to society, and their families experience a huge number of everyday and financial difficulties.

Prenatal diagnosis

Let's take a closer look at the issue of identifying pathology before the birth of a child, in the so-called prenatal period. Many couples wonder: how to identify Down syndrome during pregnancy? Special diagnostic methods have been developed for women expecting a child. They can be divided into two groups: invasive and non-invasive. The first group includes chorionic villus biopsy, cordocentesis and amniocentesis (analysis of amniotic fluid), which require surgical intervention in the form of a puncture. Non-invasive studies are carried out without invading the body and include methods such as ultrasound diagnostics and biochemical screening.

The essence of this method is to collect a small amount of amniotic fluid (amniotic fluid), which contains fetal cells. These cells are used to test for chromosomal abnormalities. To take amniotic fluid, a specialist uses a special needle to create a hole in the fetal membrane. The fruit is not affected in any way. However, the possibility of damage during the procedure still exists. To avoid this, the doctor selects the largest cavity that is free from umbilical cord loops. In rare cases, the method can lead to complications: premature rupture of amniotic fluid, detachment of membranes, infection of the embryo and some other problems. Due to the fact that there are certain risks, the procedure is prescribed only after consultation with a qualified specialist. Women over 34 years of age are not recommended to use amniocentesis, especially if non-invasive methods have not revealed any abnormalities.

Amniocentesis: invasive diagnosis of Down syndrome

This method involves taking a small amount (about 10-15 mg) of the outer membrane of the fetus. The genetic characteristics of this material provide fairly accurate information about the condition of the fetus. To take material, it is necessary to penetrate the instrument into the uterus either through the abdominal wall from the front or through the vagina. These manipulations increase the likelihood of complications during pregnancy. For example, the risk of spontaneous abortion will range from 1 to 14%. The method also does not exclude pain, bleeding and injury to the chorion.

Invasive diagnostic methods are highly accurate, however, given the risk of complications, they are not suitable for mass use by all pregnant women, but are carried out only for special indications.

Doctors usually use non-invasive technologies, called screenings, to test for Down syndrome. Screening is a comprehensive study of pregnant women for the presence of chromosomal abnormalities in the fetus. Several signs have been identified that indicate a high risk of having the disease, which can be revealed by fetal ultrasound (absence of the nasal bone, increased thickness of the nuchal space, insufficient length of the femur and humerus, and other features). In combination with ultrasound, a biochemical test of the mother’s blood is performed for hormones such as free beta-hCG and PAPP-A. The obtained data on biochemical markers is analyzed in conjunction with the results of ultrasound examination, and the result of the entire screening is a calculation of the risk of having a chromosomal abnormality in the fetus.

Invasive tests are mainly prescribed for those women who have an increased risk of having a baby with Down syndrome, for example, patients whose age is over 35 years or with poor results of non-invasive tests: ultrasound and tests. However, when using standard tests for Down syndrome, only 4-5% of women referred for invasive diagnostics actually confirm the presence of the disease. At the same time, false-negative results cannot be excluded, when screening shows a low risk, and the child is born with a chromosomal abnormality.

Not long ago, a new non-invasive research method was developed, which is much more accurate than classical diagnostics (ultrasound and biochemical screening) and is completely safe, unlike invasive methods. The technique can also be used as a test for Down syndrome during pregnancy. An important advantage of the test is its effectiveness in the early stages: the analysis can be carried out as early as the ninth week of pregnancy. The test is based on the study of fetal DNA fragments that are found in the mother's blood. To collect material for analysis, you simply need to take blood from a vein of a pregnant woman. From the sample taken, the required amount of raw material is isolated for the sequencing procedure. A non-invasive test for chromosomal abnormalities detects Down syndrome in a fetus with an accuracy exceeding 99%.

It must be taken into account that none of the diagnostic methods can give a final answer to the question: does the fetus have Down syndrome. Even when using invasive methods that provide recognition accuracy of more than 99%, there are rare cases when false positive results are given, in which a fetus with normal development is identified as sick.

Raising a child with Down syndrome

Parents who are informed that their child has a serious chromosomal pathology and refuse to terminate the pregnancy often overestimate their strength, not realizing how difficult this is for the whole family in general and for the unborn baby in particular.

If a firm decision has been made to leave the pregnancy, the couple must realize that they now have a serious responsibility. You should not deny that a child has abnormalities and consider him normal, because such an attitude can deprive him of necessary medical care. Parents should surround such a child with affection and care no less than other children, because he perfectly feels the attitude towards him.

Children with Down syndrome should be regularly monitored by specialists, take medications prescribed by a doctor, go to special procedures and follow a regimen. Inpatient treatment is prescribed only if necessary. Often all this costs a lot of money and not every family has the financial means to provide a special child with everything necessary.

Children with Down syndrome experience rapid fatigue, impaired coordination and fine motor skills, and delays in physical and mental development. Parents must be patient and strive to make daily efforts for their child's development. Only in this case will he be able to acquire all the skills necessary for life, even with a delay. There are also rehabilitation programs developed by qualified psychologists and pediatricians that can significantly help in solving the problems of raising special children, but even their use, unfortunately, does little to ease the burden of parents.

Prognosis for families with a sick child

A specialist can give any assumptions regarding the health of future children only based on what form of the syndrome doctors have recorded in the born child. In the case of a typical tripling of chromosome 21 (complete or mosaic) and in the absence of abnormalities in the chromosome set of the parents, the risk value will be no more than 1%.

If one of the parents has a Robertsonian translocation, then the risk of miscarriage during pregnancy will be 50%, and in those pregnancies that continue, the risk of Down syndrome in the embryo will be up to 30%. If two 21 chromosomes are involved in the Robertsonian translocation, then 100% of progressive pregnancies will have Down syndrome.

When inherited from the mother or father, a different translocation form will also slightly increase the risk of the syndrome, but doctors do not have accurate data on this problem. Assessing the probability of the occurrence of a disease is difficult, first of all, because statistical studies of this type are labor-intensive and require long-term observations.

Children with Down syndrome are sometimes called “sunny children.” This is explained by the fact that they are very friendly, positive and well-wishing, despite possible mood swings and periodic outbursts of aggression. Thanks to the rapid development of medicine and pedagogy, children with Down syndrome now have much more prospects for obtaining an education than they did at the beginning of the 20th century. In those days, the life expectancy of people with this pathology averaged 20-25 years. The influence of this factor did not allow them to devote a sufficient amount of time to mastering certain disciplines. Recent statistical studies on the question “how long do people with Down syndrome live?” They answer that the life expectancy bar has risen to 50 years.

However, improving the standard of living of people with a chromosomal abnormality has not eliminated many problems for both them and their parents. For example, in our country the system of early assistance (from birth to three years) is extremely poorly developed, and it is during this period of the child’s life that parents need to explain how best to deal with the child, what developmental aids to use and what to focus on in order to develop the necessary for life skills. Obtaining preschool and school education will also require serious effort. Sadly, within our country, those suffering from Down syndrome have much fewer conditions conducive to personal development than in Europe and the USA. They are unlikely to be accepted into a regular kindergarten or school. There are no mixed groups in educational institutions, which deprives a sick child of fully developing his communication skills.

The attitude towards “sunny” children in Russia is often not nearly as friendly as in Western countries. Society sees them as “not like everyone else”, makes no attempt to perceive them as equals, and sometimes does not even try to hide aggression and disgust towards such people.

Fortunately, parents of such children are increasingly gathering organized groups and organizations that provide psychological support and exchange of educational experiences. Members of these groups fight for the rights of their children to education and social support, sometimes they themselves find funds and teachers. This gives us hope that in the future the attitude towards people with Down syndrome in our society will be more tolerant and respectful.

Family life

Starting a family, like activities in many other areas of life, presents certain difficulties for a person with Down syndrome. Yes, these people can find a mate and get married safely, but with the issue of having offspring, the situation is even more difficult.

Can people with Down syndrome have children? The answer to this question depends, first of all, on the gender of the patient. Men with such genetic pathologies are always infertile. Regarding women, the situation is much less critical. According to scientists, menstruation in patients in many cases is regular and approximately every second woman with Down syndrome is able to bear and give birth to a child. It is worth noting that about 35-50% of children born to such women have various congenital malformations: this could be Down syndrome or a number of other genetic anomalies.

Ethical issues

There are organizations around the world that help people with a chromosomal disorder adapt to life in society. March 21 is World Down Syndrome Day, and there is even a special symbol for the syndrome - a yellow and blue ribbon. However, despite the wide resonance of this phenomenon, the ethical side of the issue has caused many disputes and contradictions for many years. In particular, the topic of abortion is a very sensitive one.

In 2002, studies were conducted in a number of European countries that showed a high rate of abortions among pregnant women who received positive prenatal testing results for the presence of Down syndrome in the embryo. In the vast majority of cases (91-93%), married couples made a joint decision to terminate the pregnancy. Further observations showed that during the period from 1989 to 2006 this level was consistently high. Ethicists and a number of medical professionals have expressed concern about this situation and its ethical implications for society. Today, the opinions of experts are divided and there are diametrically opposed points of view on this matter.

Ronald Greene, a medical ethicist, believes that if there is a genetic abnormality in the fetus, it is definitely worth getting rid of it. The head of the Down Syndrome Association, Claire Rayner, shares a similar opinion. Claire Rainer proposes to popularize prenatal diagnosis as much as possible and, in cases where a developmental disorder is detected, to resort to artificial termination of pregnancy. To justify the expediency of this procedure, a number of reasons are indicated: difficulties with carrying out medical procedures and activities, the inability to provide proper conditions for training, the difficult process of socialization, and the impressive financial costs of maintaining a sick person. Proponents of this position invite parents to honestly answer the question: are they ready to devote their lives to carefully caring for a special child and do they realize that people around the family will also be involved in a series of worries that are not always pleasant. The life of the child himself will also hardly be called easy, and it is unknown what his fate will be like after his parents are gone.

There is another point of view on the problem of abortion. Many experts have a negative view of the increase in the number of abortions and are extremely concerned about it. There are a number of experts who point out that this approach is almost identical to various eugenic programs for killing and sterilizing patients, which were carried out in the 20th century by some countries and condemned by the civilized world. Followers of this point of view believe that such a view simply devalues ​​human life, because the embryo becomes something like a faulty part in a household appliance or other mechanism, which can be easily thrown out and replaced with another. Unfortunately, abortions in many cases have a serious adverse effect on the mother's body, cause various complications and can even threaten infertility.

After all, no one can say with certainty that a person with Down syndrome is deeply unhappy, unaccepted by society, or lives in endless suffering due to their condition. Considering all these arguments, we can say that there is simply no obvious solution to the problem of ethical disagreements today. Each family must independently choose one or another option, depending on their beliefs and outlook on life.

It must be admitted that in our country there is insufficient support for people with genetic diseases. A baby with Down syndrome needs regular examinations and consultations with doctors, which will force parents and the child to constantly deal with the imperfections of the healthcare system in Russia, or to invest a huge amount of money in paid medicine. Difficulties in obtaining an education, work, and establishing personal contacts will haunt a person with these deviations all his life.

Termination of pregnancy for medical reasons, which includes Down syndrome, is permitted by law and is carried out at any stage of pregnancy, so you should not blame those parents who decide that they are not ready to take on the harsh test of life and subject their child to it. It will be much safer for a woman if the termination occurs in the early stages of pregnancy. This is why it is very important to undergo timely prenatal diagnosis.

Despite all the difficulties, some families and even public people, such as actress and TV presenter Evelina Bledans, decide to give birth and raise a child with Down syndrome. This step is undoubtedly worthy of respect, but you should look at the situation realistically and correctly assess your moral readiness and financial capabilities. Famous people and wealthy families still have somewhat more opportunities to help such a child adapt to life.