External signs of genetic diseases. What diseases are inherited - list, classification, genetic tests and prevention
V.G. Vakharlovsky - medical geneticist, pediatric neuropathologist of the highest category, candidate of medical sciences. Doctor of the genetic laboratory for prenatal diagnosis of hereditary and congenital diseases BEFORE. Otta - for more than 30 years he has been engaged in medical genetic counseling on the prognosis of children's health, the study, diagnosis and treatment of children suffering from hereditary and congenital diseases of the nervous system. Author of over 150 publications.
Each of us, thinking about a child, dreams of having only a healthy and ultimately happy son or daughter. Sometimes our dreams are wrecked, and a child is born seriously ill, but this does not mean at all that this own, native, consanguineous (scientifically: biological) child will be less loved and less dear in most cases. Of course, at the birth of a sick child, there are immeasurably more worries, material costs, stress - physical and moral, than at the birth of a healthy one. Some condemn a mother and/or father who abandoned a sick child. But, as the Gospel tells us: "Judge not, and you will not be judged." A child is abandoned for a variety of reasons, both on the part of the mother and / or father (social, material, age, etc.), and the child (severity of the disease, possibilities and prospects for treatment, etc.). The so-called abandoned children can be both sick and practically healthy people, regardless of age: both newborns and infants, and older ones.
For various reasons, the spouses decide to take a child into the family from an orphanage or immediately from a maternity hospital. Less often, this, from our point of view, humane, courageous civic act, is done by single women. It happens that disabled children leave the orphanage and their named parents deliberately take into the family a child with an illness or with cerebral palsy, etc.
The objective of this work is to highlight the clinical and genetic features of the most common hereditary diseases that manifest themselves in a child immediately after birth and at the same time, based on the clinical picture of the disease, a diagnosis can be made, or during subsequent years of the child's life, when the pathology is diagnosed depending on time. the appearance of the first symptoms specific to this disease. Some diseases can be detected in a child even before the onset of clinical symptoms with the help of a number of laboratory biochemical, cytogenetic and molecular genetic studies.
The probability of having a child with a congenital or hereditary pathology, the so-called population or general statistical risk, equal to 3-5%, haunts every pregnant woman. In some cases, it is possible to predict the birth of a child with a particular disease and diagnose the pathology already in the prenatal period. Some congenital malformations and diseases are established in the fetus using laboratory biochemical, cytogenetic and molecular genetic methods, more precisely, a set of prenatal (prenatal) diagnostic methods.
We are convinced that all children offered for adoption/adoption should be examined in the most detailed manner by all medical specialists in order to exclude the relevant profile pathology, including examination and examination by a geneticist. In this case, all known data about the child and his parents must be taken into account.
Chromosomal mutations
There are 46 chromosomes in the nucleus of every cell in the human body, i.e. 23 pairs that contain all hereditary information. A person receives 23 chromosomes from a mother with an egg and 23 from a father with a sperm. When these two sex cells merge, the result that we see in the mirror and around us is obtained. The study of chromosomes is carried out by a specialist cytogeneticist. For this purpose, blood cells called lymphocytes are used, which are specially processed. A set of chromosomes, distributed by a specialist in pairs and by serial number - the first pair, etc., is called a karyotype. We repeat, in the nucleus of each cell there are 46 chromosomes or 23 pairs. The last pair of chromosomes is responsible for the sex of a person. In girls, these are the XX chromosomes, one of them is received from the mother, the other from the father. Boys have XY sex chromosomes. The first is from the mother and the second from the father. Half of the spermatozoa contain an X chromosome and the other half a Y chromosome.
There is a group of diseases caused by a change in the set of chromosomes. The most common of these is Down's disease (one in 700 newborns). The diagnosis of this disease in a child should be made by a neonatologist in the first 5-7 days of the newborn's stay in the maternity hospital and confirmed by examining the child's karyotype. In Down's disease, the karyotype is 47 chromosomes, the third chromosome is in the 21st pair. Girls and boys suffer from this chromosomal pathology in the same way.
Only girls can have Shereshevsky-Turner disease. The first signs of pathology are most often noticeable at the age of 10-12, when the girl has a small stature, low-set hair at the back of her head, and at 13-14 years there are no signs of menstruation. There is a slight lag in mental development. The leading symptom in adult patients with Shereshevsky-Turner disease is infertility. The karyotype of such a patient is 45 chromosomes. One X chromosome is missing. The frequency of the disease is 1 per 3,000 girls and among girls 130-145 cm tall - 73 per 1000.
Only in males, Kleinfelter's disease is observed, the diagnosis of which is most often established at the age of 16-18. The patient has a high growth (190 cm and above), often a slight lag in mental development, long arms disproportionately tall, covering the chest when it is girthed. In the study of the karyotype, 47 chromosomes are observed - 47, XXY. In adult patients with Kleinfelter's disease, the leading symptom is infertility. The prevalence of the disease is 1:18,000 healthy men, 1:95 mentally retarded boys, and one in 9 infertile men.
You/we have described the most common chromosomal diseases. More than 5,000 diseases of a hereditary nature are classified as monogenic, in which there is a change, a mutation, in any of the 30,000 genes found in the nucleus of a human cell. The work of certain genes contributes to the synthesis (formation) of the protein or proteins corresponding to this gene, which are responsible for the functioning of cells, organs and body systems. Violation (mutation) of a gene leads to a violation of protein synthesis and further a violation of the physiological function of cells, organs and systems of the body, in the activity of which this protein is involved. Let's take a look at the most common of these diseases.
All couples, dreaming of a child, want the baby to be born without fail healthy. But there is a possibility that, despite all the efforts made, the child will be born seriously ill. Often this happens due to genetic diseases that happened in the family of one of the parents or even two. What are the most common genetic diseases?
The likelihood of a genetic disease in a child
It is believed that the probability of having a baby with a congenital or hereditary pathology, the so-called population or general statistical risk, is approximately 3-5% for each pregnant woman. In rare cases, the probability of the birth of a child with a genetic disease can be predicted and the pathology can be diagnosed already in the period of intrauterine development of the child. Certain congenital malformations and diseases are established using laboratory biochemical, cytogenetic and molecular genetic methods even in the fetus, since some diseases are detected during a complex of prenatal (prenatal) diagnostic methods.
Down syndrome
The most common disease caused by a change in the set of chromosomes is Down's disease, which occurs in one child in 700 newborns. This diagnosis in a child should be made by a neonatologist in the first 5-7 days after birth and confirmed by examining the child's karyotype. In the presence of Down's disease in a child, the karyotype is 47 chromosomes, when with 21 pairs there is a third chromosome. Girls and boys are susceptible to Down's disease with the same frequency.
Shereshevsky-Turner disease occurs only in girls. Signs of this pathology can become noticeable at the age of 10-12, when the girl's height is too small, and the hair on the back of her head is set too low. At 13-14 years old, a girl suffering from this disease does not even have any hints of menstruation. There is also mild mental retardation. The main symptom in adult girls with Shereshevsky-Turner disease is infertility. The karyotype of such a patient is 45 chromosomes, one X chromosome is missing.
Klinefelter's disease
Kleinfelter's disease occurs only in men, the diagnosis of this disease is most often established at the age of 16-18. A sick young man has a very high growth - from 190 cm and above, while mental retardation is often observed, and disproportionately long arms are noted, which can completely cover the chest. In the study of the karyotype, 47 chromosomes are found - 47, XXY. In adult men with Klinefelter's disease, infertility is the main symptom.
With phenylketonuria, or pyruvic oligophrenia, which is a hereditary disease, the parents of a sick child can be quite healthy people, but each of them can be a carrier of exactly the same pathological gene, while the risk that they can have a sick child is about 25%. Most often, such cases occur in related marriages. Phenylketonuria is one of the most common hereditary diseases, with an incidence of 1:10,000 newborns. The essence of phenylketonuria is that the amino acid phenylalanine is not absorbed by the body, while the toxic concentration adversely affects the functional activity of the brain and a number of other organs and systems of the child. There is a lag in the mental and motor development of the baby, epileptiform-like seizures, dyspeptic manifestations and dermatitis are the main clinical signs of this disease. Treatment consists of a special diet, as well as the additional use of amino acid mixtures devoid of the amino acid phenylalanine.
Hemophilia
Hemophilia most often manifests itself only after a year of a child's life. Mostly boys suffer from this disease, but mothers are most often carriers of this genetic mutation. The bleeding disorder that occurs in hemophilia often leads to severe joint damage, such as hemorrhagic arthritis and other body lesions, when the slightest cuts cause prolonged bleeding, which can be fatal to a person.
From parents, a child can acquire not only a certain eye color, height or face shape, but also inherited. What are they? How can you discover them? What classification exists?
Mechanisms of heredity
Before talking about diseases, it is worth understanding what all the information about us is contained in the DNA molecule, which consists of an unimaginably long chain of amino acids. The alternation of these amino acids is unique.
Fragments of the DNA chain are called genes. Each gene contains integral information about one or more characteristics of the body, which is transmitted from parents to children, for example, skin color, hair, character trait, etc. When they are damaged or their work is disturbed, genetic diseases are inherited.
DNA is organized into 46 chromosomes or 23 pairs, one of which is sexual. Chromosomes are responsible for the activity of genes, their copying, as well as repair in case of damage. As a result of fertilization, each pair has one chromosome from the father and the other from the mother.
In this case, one of the genes will be dominant, and the other recessive or suppressed. Simply put, if the gene responsible for eye color is dominant in the father, then the child will inherit this trait from him, and not from the mother.
Genetic diseases
Hereditary diseases occur when abnormalities or mutations occur in the mechanism for storing and transmitting genetic information. An organism whose gene is damaged will pass it on to its offspring in the same way as healthy material.
In the case when the pathological gene is recessive, it may not appear in the next generations, but they will be its carriers. The chance that it will not manifest itself exists when a healthy gene also turns out to be dominant.
Currently, more than 6 thousand hereditary diseases are known. Many of them appear after 35 years, and some may never declare themselves to the owner. Diabetes mellitus, obesity, psoriasis, Alzheimer's disease, schizophrenia and other disorders are manifested with extremely high frequency.
Classification
Genetic diseases that are inherited have a huge number of varieties. To separate them into separate groups, the location of the disorder, causes, clinical picture, and the nature of heredity can be taken into account.
Diseases can be classified according to the type of inheritance and the location of the defective gene. So, it is important whether the gene is located on the sex or non-sex chromosome (autosome), and whether it is suppressive or not. Allocate diseases:
- Autosomal dominant - brachydactyly, arachnodactyly, ectopia of the lens.
- Autosomal recessive - albinism, muscular dystonia, dystrophy.
- Sex-limited (observed only in women or men) - hemophilia A and B, color blindness, paralysis, phosphate diabetes.
The quantitative and qualitative classification of hereditary diseases distinguishes gene, chromosomal and mitochondrial types. The latter refers to DNA disturbances in mitochondria outside the nucleus. The first two occur in DNA, which is located in the cell nucleus, and have several subtypes:
Monogenic | Mutations or absence of a gene in nuclear DNA. | Marfan syndrome, adrenogenital syndrome in newborns, neurofibromatosis, hemophilia A, Duchenne myopathy. |
polygenic | predisposition and action | Psoriasis, schizophrenia, ischemic disease, cirrhosis, bronchial asthma, diabetes mellitus. |
Chromosomal |
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Change in the structure of chromosomes. | Syndromes of Miller-Dikker, Williams, Langer-Gidion. |
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Change in the number of chromosomes. | Syndromes of Down, Patau, Edwards, Klayfenter. |
|
Causes
Our genes tend not only to accumulate information, but also to change it, acquiring new qualities. This is the mutation. It occurs quite rarely, about 1 time in a million cases, and is transmitted to descendants if it occurs in germ cells. For individual genes, the mutation rate is 1:108.
Mutations are a natural process and form the basis of the evolutionary variability of all living beings. They can be helpful and harmful. Some help us to better adapt to the environment and way of life (for example, the opposed thumb), others lead to diseases.
The occurrence of pathologies in the genes is increased by physical, chemical and biological. This property is possessed by some alkaloids, nitrates, nitrites, some food additives, pesticides, solvents and petroleum products.
Among the physical factors are ionizing and radioactive radiation, ultraviolet rays, excessively high and low temperatures. The biological causes are rubella viruses, measles, antigens, etc.
genetic predisposition
Parents influence us not only by education. It is known that some people are more likely to develop certain diseases than others due to heredity. A genetic predisposition to diseases occurs when one of the relatives has an abnormality in the genes.
The risk of a particular disease in a child depends on his gender, because some diseases are transmitted only through one line. It also depends on the race of the person and on the degree of relationship with the patient.
If a child is born to a person with a mutation, then the chance of inheriting the disease will be 50%. The gene may well not show itself in any way, being recessive, and in the case of marriage with a healthy person, its chances of being passed on to descendants will be already 25%. However, if the spouse also owns such a recessive gene, the chances of its manifestation in descendants will again increase to 50%.
How to identify the disease?
The genetic center will help to detect the disease or predisposition to it in time. Usually this is in all major cities. Before taking the tests, a consultation is held with the doctor to find out what health problems are observed in relatives.
Medico-genetic examination is carried out by taking blood for analysis. The sample is carefully examined in the laboratory for any abnormalities. Expectant parents usually attend such consultations after pregnancy. However, it is worth coming to the genetic center during its planning.
Hereditary diseases seriously affect the mental and physical health of the child, affect life expectancy. Most of them are difficult to treat, and their manifestation is only corrected by medical means. Therefore, it is better to prepare for this even before conceiving a baby.
Down syndrome
One of the most common genetic diseases is Down syndrome. It occurs in 13 cases out of 10,000. This is an anomaly in which a person has not 46, but 47 chromosomes. The syndrome can be diagnosed immediately at birth.
Among the main symptoms are a flattened face, raised corners of the eyes, a short neck, and a lack of muscle tone. The auricles are usually small, the incision of the eyes is oblique, the irregular shape of the skull.
In sick children, concomitant disorders and diseases are observed - pneumonia, SARS, etc. Exacerbations are possible, for example, hearing loss, vision loss, hypothyroidism, heart disease. With Downism, it is slowed down and often remains at the level of seven years.
Constant work, special exercises and preparations significantly improve the situation. Many cases are known when people with a similar syndrome could well lead an independent life, find work and achieve professional success.
Hemophilia
A rare hereditary disease that affects men. Occurs once in 10,000 cases. Hemophilia is not treated and occurs as a result of a change in one gene on the sex X chromosome. Women are only carriers of the disease.
The main characteristic is the absence of a protein that is responsible for blood clotting. In this case, even a minor injury causes bleeding that is not easy to stop. Sometimes it manifests itself only the next day after the bruise.
Queen Victoria of England was a carrier of hemophilia. She passed on the disease to many of her descendants, including Tsarevich Alexei, the son of Tsar Nicholas II. Thanks to her, the disease began to be called "royal" or "Victorian".
Angelman syndrome
The disease is often called "happy doll syndrome" or "Petrushka syndrome", as patients have frequent outbursts of laughter and smiles, chaotic hand movements. With this anomaly, a violation of sleep and mental development is characteristic.
The syndrome occurs once in 10,000 cases due to the absence of certain genes in the long arm of the 15th chromosome. Angelman's disease develops only if the genes are missing from the chromosome inherited from the mother. When the same genes are missing from the paternal chromosome, Prader-Willi syndrome occurs.
The disease cannot be cured completely, but it is possible to alleviate the manifestation of symptoms. For this, physical procedures and massages are carried out. Patients do not become completely independent, but during treatment they can serve themselves.
Every healthy person has 6-8 damaged genes, but they do not disrupt cell functions and do not lead to disease, because they are recessive (non-manifested). If a person inherits two similar abnormal genes from his mother and father, he becomes ill. The probability of such a coincidence is extremely small, but it increases dramatically if the parents are relatives (that is, they have a similar genotype). For this reason, the frequency of genetic abnormalities is high in closed populations.
Each gene in the human body is responsible for the production of a specific protein. Due to the manifestation of a damaged gene, the synthesis of an abnormal protein begins, which leads to cell dysfunction and developmental defects.
The doctor can establish the risk of a possible genetic anomaly by asking you about the diseases of relatives “up to the third knee”, both on your part and on the part of your husband.
Genetic diseases are numerous and some are very rare.
List of rare hereditary diseases
Here are the characteristics of some genetic diseases.
Down syndrome (or trisomy 21)- a chromosomal disease characterized by mental retardation and impaired physical development. A disease occurs due to the presence of a third chromosome in the 21st pair (in total, a person has 23 pairs of chromosomes). It is the most common genetic disease, occurring in about one in 700 newborns. The frequency of Down syndrome increases in children born to women over 35 years of age. Patients with this disease have a special appearance and suffer from mental and physical retardation.
Turner syndrome- a disease that affects girls, characterized by the partial or complete absence of one or two X chromosomes. The disease occurs in one in 3,000 girls. Girls with this disease are usually very small and their ovaries do not function.
X-trisomy syndrome- a disease in which a girl is born with three X chromosomes. This disease occurs in an average of one in 1000 girls. The X-trisomy syndrome is characterized by a slight mental retardation and, in some cases, infertility.
Klinefelter syndrome- a disease in which the boy has one extra chromosome. The disease occurs in one boy out of 700. Patients with Klinefelter's syndrome, as a rule, are tall, there are no noticeable external developmental anomalies (after puberty, facial hair growth is difficult and the mammary glands are somewhat enlarged). Intellect in patients is usually normal, but speech disorders are common. Men with Klinefelter syndrome are usually infertile.
cystic fibrosis- a genetic disease in which the functions of many glands are impaired. Cystic fibrosis only affects Caucasians. Approximately one in 20 white people has one damaged gene that, if manifested, can cause cystic fibrosis. The disease occurs when a person receives two of these genes (from the father and from the mother). In Russia, cystic fibrosis, according to various sources, occurs in one newborn out of 3500-5400, in the USA - in one out of 2500. With this disease, the gene responsible for the production of a protein that regulates the movement of sodium and chlorine through cell membranes is damaged. There is dehydration and an increase in the viscosity of the secretion of the glands. As a result, a thick secret blocks their activity. In patients with cystic fibrosis, protein and fat are poorly absorbed, as a result, growth and weight gain are greatly slowed down. Modern methods of treatment (taking enzymes, vitamins and a special diet) allow half of the patients with cystic fibrosis to live more than 28 years.
Hemophilia- a genetic disease characterized by increased bleeding due to a deficiency of one of the blood coagulation factors. The disease is inherited through the female line, while it affects the vast majority of boys (an average of one in 8500). Hemophilia occurs when the genes responsible for the activity of blood clotting factors are damaged. With hemophilia, frequent hemorrhages in the joints and muscles are observed, which can ultimately lead to their significant deformation (that is, to a person's disability). People with hemophilia should avoid situations that could lead to bleeding. Patients with hemophilia should not take drugs that reduce blood clotting (for example, aspirin, heparin, and some painkillers). To prevent or stop bleeding, the patient is given a plasma concentrate containing a large amount of the missing clotting factor.
Tay Sachs disease- a genetic disease characterized by the accumulation in the tissues of phytanic acid (a product of the breakdown of fats). The disease occurs mainly among Ashkenazi Jews and Canadians of French origin (in one newborn in 3600). Children with Tay-Sachs disease are retarded from an early age, then they become paralyzed and blind. As a rule, patients live up to 3-4 years. There are no treatments for this disease.
Every gene in the human body contains unique information contained in DNA. The genotype of a particular individual provides both its unique external features and largely determines the state of its health.
Medical interest in genetics has been steadily growing since the second half of the 20th century. The development of this field of science opens up new methods for studying diseases, including rare ones that were considered incurable. To date, several thousand diseases have been discovered that are completely dependent on the human genotype. Consider the causes of these diseases, their specificity, what methods of their diagnosis and treatment are used by modern medicine.
Types of Genetic Diseases
Genetic diseases are considered to be inherited diseases that are caused by mutations in genes. It is important to understand that birth defects that appeared as a result of intrauterine infections, pregnant women taking illegal drugs and other external factors that could affect pregnancy are not related to genetic diseases.
Human genetic diseases are divided into the following types:
Chromosomal aberrations (rearrangements)
This group includes pathologies associated with changes in the structural composition of chromosomes. These changes are caused by rupture of chromosomes, which leads to redistribution, doubling or loss of genetic material in them. It is this material that should ensure the storage, reproduction and transmission of hereditary information.
Chromosomal rearrangements lead to the occurrence of a genetic imbalance, which negatively affects the normal course of development of the organism. There are aberrations in chromosomal diseases: cat cry syndrome, Down syndrome, Edwards syndrome, polysomy on the X chromosome or Y chromosome, etc.
The most common chromosomal anomaly in the world is Down syndrome. This pathology is due to the presence of one extra chromosome in the human genotype, that is, the patient has 47 chromosomes instead of 46. In people with Down syndrome, the 21st pair (23 in total) of chromosomes has three copies, and not two. There are rare cases when this genetic disease is the result of a translocation of the 21st pair of chromosomes or mosaicism. In the vast majority of cases, the syndrome is not a hereditary disorder (91 out of 100).
Monogenic diseases
This group is quite heterogeneous in terms of clinical manifestations of diseases, but each genetic disease here is caused by DNA damage at the gene level. To date, more than 4,000 monogenic diseases have been discovered and described. These include diseases with mental retardation, and hereditary metabolic diseases, isolated forms of microcephaly, hydrocephalus, and a number of other diseases. Some of the diseases are already noticeable in newborns, others make themselves felt only in the puberty period or when a person reaches 30-50 years old.
Polygenic diseases
These pathologies can be explained not only by genetic predisposition, but also, to a large extent, by external factors (malnutrition, poor ecology, etc.). Polygenic diseases are also called multifactorial. This is justified by the fact that they appear as a result of the actions of many genes. The most common multifactorial diseases include: rheumatoid arthritis, hypertension, coronary heart disease, diabetes mellitus, liver cirrhosis, psoriasis, schizophrenia, etc.
These diseases account for about 92% of the total number of inherited pathologies. With age, the frequency of diseases increases. In childhood, the number of patients is at least 10%, and in the elderly - 25-30%.
To date, several thousand genetic diseases have been described, here is just a short list of some of them:
| The most common genetic diseases | The rarest genetic diseases |
|---|---|
|
Hemophilia (blood clotting disorder) |
Capgras delusion (a person believes that someone close to him has been replaced by a clone). |
|
Colorblindness (inability to distinguish colors) |
Klein-Levin syndrome (excessive sleepiness, behavioral disorders) |
|
Cystic fibrosis (respiratory dysfunction) |
Elephant disease (painful skin growths) |
|
Spina bifida (vertebrae do not close around the spinal cord) |
Cicero (psychological disorder, desire to eat inedible things) |
|
Tay-Sachs disease (CNS damage) |
Stendhal syndrome (palpitations, hallucinations, loss of consciousness at the sight of works of art) |
|
Klinefelter syndrome (androgen deficiency in men) |
Robin's syndrome (malformation of the maxillofacial region) |
|
Prader-Willi syndrome (delayed physical and intellectual development, defects in appearance) |
Hypertrichosis (excess hair growth) |
|
Phenylketonuria (impaired amino acid metabolism) |
Blue skin syndrome (blue skin color) |
Some genetic diseases can appear literally in every generation. As a rule, they do not appear in children, but with age. Risk factors (poor environment, stress, hormonal imbalance, malnutrition) contribute to the manifestation of a genetic error. Such diseases include diabetes, psoriasis, obesity, hypertension, epilepsy, schizophrenia, Alzheimer's disease, etc.
Diagnostics of gene pathologies
Not every genetic disease is detected from the first day of a person's life, some of them manifest themselves only after a few years. In this regard, it is very important to undergo timely research for the presence of gene pathologies. It is possible to implement such a diagnosis both at the stage of pregnancy planning and during the period of bearing a child.
There are several diagnostic methods:
Biochemical analysis
Allows you to establish diseases associated with hereditary metabolic disorders. The method implies a human blood test, a qualitative and quantitative study of other body fluids;
Cytogenetic method
Reveals the causes of genetic diseases, which lie in violations in the organization of cellular chromosomes;
Molecular cytogenetic method
An improved version of the cytogenetic method, which allows you to detect even microchanges and the smallest breakdown of chromosomes;
Syndromic method
A genetic disease in many cases may have the same symptoms, which will coincide with the manifestations of other, non-pathological diseases. The method lies in the fact that with the help of a genetics examination and special computer programs, only those that specifically indicate a genetic disease are isolated from the entire spectrum of symptoms.
Molecular genetic method
At the moment it is the most reliable and accurate. It makes it possible to study human DNA and RNA, to detect even minor changes, including in the nucleotide sequence. Used to diagnose monogenic diseases and mutations.
Ultrasound examination (ultrasound)
To detect diseases of the female reproductive system, ultrasound of the pelvic organs is used. Ultrasound is also used to diagnose congenital pathologies and some chromosomal diseases of the fetus.
It is known that about 60% of spontaneous miscarriages in the first trimester of pregnancy are due to the fact that the fetus had a genetic disease. The mother's body thus gets rid of the non-viable embryo. Hereditary genetic diseases can also cause infertility or recurrent miscarriages. Often a woman has to go through many inconclusive examinations until she turns to a geneticist.
The best prevention of the occurrence of a genetic disease in the fetus is a genetic examination of parents during pregnancy planning. Even when healthy, a man or woman can carry damaged sections of genes in their genotype. The universal genetic test is able to detect more than a hundred diseases that are based on gene mutations. Knowing that at least one of the future parents is a carrier of disorders, the doctor will help you choose the appropriate tactics for preparing for pregnancy and its management. The fact is that gene changes that accompany pregnancy can cause irreparable harm to the fetus and even become a threat to the life of the mother.
During pregnancy, women, with the help of special studies, are sometimes diagnosed with genetic diseases of the fetus, which may raise the question of whether it is worth keeping the pregnancy at all. The earliest time for diagnosing these pathologies is the 9th week. This diagnosis is carried out using a safe non-invasive DNA test Panorama. The test consists in the fact that blood is taken from a future mother from a vein, using the sequencing method, the genetic material of the fetus is isolated from it and studied for the presence of chromosomal abnormalities. The study is able to identify such abnormalities as Down syndrome, Edwards syndrome, Patau syndrome, microdeletion syndromes, pathologies of sex chromosomes and a number of other anomalies.
An adult person, having passed genetic tests, can find out about his predisposition to genetic diseases. In this case, he will have a chance to resort to effective preventive measures and prevent the occurrence of a pathological condition by being observed by a specialist.
Treatment of genetic diseases
Any genetic disease presents difficulties for medicine, especially since some of them are quite difficult to diagnose. A huge number of diseases cannot be cured in principle: Down's syndrome, Klinefelter's syndrome, cystic acidosis, etc. Some of them seriously reduce the life expectancy of a person.
The main methods of treatment:
- Symptomatic
It relieves symptoms that cause pain and discomfort, prevents the progress of the disease, but does not eliminate its cause.
geneticist
Kyiv Julia Kirillovna
If you have:
- questions about the results of prenatal diagnosis;
- poor screening results
*consultation is conducted for residents of any region of Russia via the Internet. For residents of Moscow and the Moscow region, a personal consultation is possible (have a passport and a valid compulsory medical insurance policy with you)
