Who is a geneticist? What does a geneticist do and when should you contact him? Geneticist. What pathologies does it treat? Tests and studies carried out by the doctor What the geneticist says

Genetics is a medical branch that studies the pattern of inheritance of severe pathologies and diseases. A geneticist is a specialist who is consulted before conceiving a child to avoid the appearance of any congenital anomalies. This is especially true if there are cases in the family history of the birth of children with genetic abnormalities.

When is it necessary to contact a geneticist?

In addition to the presence in the family of cases of the birth of children with anomalies of physical and mental development, which significantly increases the risks of genetic inheritance, the following situations are prerequisites for contacting a geneticist:

• the age of a woman who is pregnant for the first time is over 35 years old;
• conception of a child between a man and a woman who are related by blood;
• one of the parents has a decrease in memory and mental abilities with age;
• cases of frequent miscarriages in women during previous pregnancies;
• infertility for no apparent reason;
• abnormalities of fetal development in a previous pregnancy;
• complicated pregnancy with threat of early termination.

It is necessary to contact a geneticist in cases where a mother's blood test performed at 1 week - screening - showed a high probability of the child having developmental anomalies or severe pathological conditions.

The specialist deciphers the screening and directs you to take other, more detailed tests that will confirm or refute the primary diagnosis.

They also turn to a geneticist if a couple wants to conceive a child of a certain gender.

The competence of genetics includes all pathologies and anomalies. A medical specialist is engaged in the diagnosis, correction and prevention of the following diseases and pathologies:

• retardation in physical or mental development;
• genetic predisposition to alcoholism;
• cystic fibrosis;
• dystrophy of myotonic type;
• Wolf-Hirschhorn syndrome;
• cat cry syndrome;
• various types of mutations;
• Patau syndrome;
• Edwards syndrome, as well as many other pathologies and anomalies.

Most of these diseases cannot be cured; they can only be corrected if the anomaly is in a mild stage. The task of a geneticist is to identify, based on the biological material of both parents, the likelihood of developing these pathologies in a child.

If the risks are high, the couple is advised to conceive a child through in vitro fertilization. The essence of this method is to fertilize several eggs and conduct a thorough genetic diagnosis of them. After this, select healthy biological material, which will be implanted into the woman’s uterus.

Consultation with a gynecologist - what to do, what issues need to be resolved?

An appointment with a gynecologist involves interviewing patients, undergoing a number of medical tests and undergoing instrumental diagnostic methods.

During a consultation with a medical specialist, it is necessary to answer a number of questions regarding the health of both partners, the presence of children in the family born with physical and mental abnormalities, cases of stillbirth, or the presence of spontaneous miscarriages in a woman in previous pregnancies.

The doctor collects a thorough family history, on the basis of which the likelihood of having a child with pathologies is calculated. To obtain a more accurate picture of the parents’ condition and to detect the causes of complications in the fetus, it is necessary to undergo a complete medical examination.

What tests and instrumental diagnostic methods are used by a geneticist?

To obtain a complete picture of your health status and calculate the possible likelihood of inheriting genetic abnormalities, a thorough diagnosis is carried out. The examination includes the following methods:

• screening;
• karyotype analysis;
• DNA diagnosis of both parents;
• ultrasound examination of all internal organs;
• general and detailed blood test;
• Analysis of urine;
• biopsy of soft tissue of the uterus;
• study of the chromosome number;
• Diagnosis of a woman’s biochemical marker.

It is recommended to undergo all these tests before conceiving a child. During pregnancy, if there is a suspicion of fetal developmental anomalies, many diagnostic methods cannot be performed due to the fact that they can damage the fetus and cause complications.

Karyotype analysis is an important method of genetic diagnosis, which indicates the possible risks of a child inheriting severe pathologies and the likelihood of his developing anomalies. To carry out the analysis, venous blood is taken from the mother.

In order for the test results to be as informative and accurate as possible, you must adhere to certain rules when donating blood. 3-5 days before the test, taking any medications is excluded; the collection of biological material itself is carried out only on an empty stomach in the morning.

The results obtained indicate the normal number of chromosomes (46): female 46XX or male 46XY. With pathological abnormalities, there are usually more or less chromosomes.

Prenatal examination techniques

These methods involve taking biological material from the mother and fetus to study for possible abnormalities in the child’s development or risks of inheriting severe pathologies. Invasive methods include:

1. Amniocentesis is a test performed during pregnancy. Amniotic fluid acts as biological material. The period is from 17 to 20 weeks. The following data can be obtained - the child’s karyotype, the presence and concentration of certain hormones and enzymes that can affect the development of the fetus, fetal DNA.
2. Chorionic villus biopsy - time: 8-11 weeks of pregnancy. Indications for the procedure are the presence in the family of a child with genetic abnormalities. To take biological material, the wall of the peritoneum and the amniotic sac are pierced.
3. Cordocentesis – time of implementation – 17th week of pregnancy. Blood is taken from the vessels of the umbilical cord. What data can you get? Diseases of the circulatory system, diseases of the immune system.
4. Embryoscopy – time: from 5 to 12 weeks. The essence of the method is the introduction of a special device into the uterus, which is a flexible hose. The study is carried out to study the state of blood circulation in a child in the womb.

Most of these invasive techniques can cause complications during pregnancy. They are used only in cases where a screening test has shown a high probability of the child developing congenital anomalies and pathologies, or if other, safer research methods are not as informative and accurate.

In addition to invasive methods, non-invasive methods are used:

• Ultrasound - allows you to identify various developmental anomalies at different stages of gestation. During the gestational period it is carried out three times - 11-12, 20-22 and 30-32 weeks. According to indications, it can be performed every 4 weeks;
• Obtaining markers and alpha protein produced by the placenta. Their number, which does not coincide with the norm, indicates chromosomal pathologies and NS defects.

An appointment with a geneticist is the most important stage when planning to conceive a child, especially in cases where there are cases in the family of children born with anomalies of physical or mental development. It is important to understand that a geneticist cannot cure severe congenital pathologies. The task of this specialist is to detect anomalies or calculate the likelihood of complications.

A difficult nuance of a geneticist’s work is the moral and ethical aspect; if severe pathologies are detected in the fetus that cannot be corrected, the woman will be offered a medical termination of pregnancy.

Genetics is a science based on the study of the genetic mechanisms of hereditary diseases. Takes into account the role of genetic factors in any type of pathology, develops methods for diagnosing and preventing hereditary diseases.

Congenital malformations can occur in utero - they are not necessarily hereditary diseases. Very often, fetal mutations occur for the first time. This can be affected by electromagnetic radiation, chemicals (herbicides, arsenic, benzene), taking medications and past illnesses (rubella, influenza).

As a rule, people are referred for consultation to a geneticist in the following cases:

1. A couple goes to a geneticist of their own free will at the stage of conceiving a child. A geneticist can predict the health status of the unborn child, taking into account the likelihood of a hereditary or non-hereditary disease. The doctor will draw up a pedigree, determine the risk group for hereditary diseases, and advise what tests and studies need to be carried out to avoid genetic pathology. If the family of the future parents has relatives with genetic diseases, or if the couple has a genetic disease, they should all the more turn to a geneticist. He will also tell you whether problems with conception and pregnancy are related to genetics. As a rule, 5 out of 100 couples cannot do without consultation and help from a geneticist for medical reasons.
2. If a pregnant woman or her family has suffered from or has hereditary diseases.
3. If the previous baby was born with developmental defects or chromosomal abnormalities before 9 months.
4. When a woman enters the risk age group: gives birth to a child after 35.
5. Use of medications or drugs by a pregnant woman before the 3rd month of pregnancy.
6. The basis for visiting a geneticist may also be the results of ultrasound and biochemical studies. For example, if an ultrasound revealed obvious physical abnormalities, and biochemical abnormalities revealed abnormal levels of protein, alpha-fetoprotein and human chorionic gonadotropin.
7. When a woman has endocrine disorders or during pregnancy she has suffered viral infections that can lead to miscarriage or cause fetal malformations. One of the most dangerous is rubella, herpes, cytomegalovirus, .

It’s not a bad idea when planning a pregnancy if the future father of the child also undergoes a consultation. The andrologist examines his spermogram. If spermatogenesis disorders are detected, a cytogenetic study is prescribed, during which the chromosome set is examined.

Genetic research before conception

During the consultation, the geneticist will collect data on the health status of the spouses and conduct an examination. He will also carefully study the pedigree, family tree with a description of family ties, and the health status of relatives. At the same time, he will ask about their age and diseases, causes of death and age of death. The geneticist will interview and question. Typically starts with the maternal grandparents. The specialist will take into account all infertile marriages, miscarriages, abortions.

If desired, you can undergo a study of the chromosome set of future parents. They will take blood, isolate lymphocytes from it, stimulate them in a test tube so that they begin to divide, treat them with a special substance, it will stop the process of cell division precisely at the stage when chromosomes are visible. A geneticist examines 11-13 cells under a microscope to identify changes in the chromosome set.

Genetic studies during pregnancy

During pregnancy, one of the main methods for detecting developmental disorders is intrauterine examination - it is carried out by ultrasound or biochemical studies. During an ultrasound, the fetus is scanned; this method is absolutely harmless and safe. When conducting biochemical studies, blood is taken from the pregnant woman and biochemical markers are determined. The above manipulations are called non-invasive methods.

Invasive, unlike those mentioned above, involve a medical “invasion” into the uterine cavity: in this way, specialists take material for research in order to most accurately determine the karyotype of the fetus. These methods include chorionic villus sampling, amniocentesis, placentocentesis and cordocentesis. Cells are collected from the placenta, amniotic fluid, and blood from the fetal umbilical cord. This is a dangerous research method, so it is carried out only for strict medical reasons. For example, if the mother is a carrier of the hemophilia gene, and the gender of the unborn child is male. Invasive research methods are carried out only under ultrasound guidance and in a day hospital, since after them the woman must remain under medical supervision for another couple of hours.

Removal of cells from the placenta - chorionic villus biopsy. It is carried out at 9-12 weeks. A puncture of the anterior abdominal wall is performed. The procedure does not take long, the result is ready in 3-4 days. The probability of miscarriage after the procedure is 2%. But if gene pathologies are identified, it is possible to terminate the pregnancy in the early stages.

Amniotic fluid is taken - amniocentesis - at 16-24 weeks. This is the safest of the invasive methods. The percentage of complications after it is 1%. But you will have to wait a very long time for the result, since specialists will “grow” the cells, and this will take time.

Fetal umbilical cord puncture, cord blood collection - cordocentesis - is carried out in the later stages: 22-25 weeks. A very accurate research method, analysis period is up to 5 days.

Non-invasive methods are performed on all pregnant women, but invasive methods require strong indications.

Prevention of gene diseases

Strange as it may seem, it is possible to prevent genetic diseases. Of course, the first thing to think about is BEFORE conception. Both spouses should undergo therapy, take vitamins, quit smoking, give up alcohol and minimize contact with harmful substances. And those who have hereditary pathologies in their families must undergo DNA testing.

The vitamins that a couple takes a couple of months before conception should contain folic acid (up to 0.4-1 mg per day), ascorbic acid, a-tocopherol, and B vitamins. On the threshold of conception, spouses should also think about proper nutrition. There are greens, legumes, liver. This will benefit both the organisms of the parents and the unborn child.

And don’t forget - strict adherence to your doctor’s instructions, timely research, diagnosis and testing will minimize the likelihood of genetic diseases occurring. But if this happens, remember, in our time medicine is capable of performing miracles.

Especially for- Maria Dulina

Today, a family planning a pregnancy cannot do without a geneticist. What does it do, how does it help patients during their appointment, and in what situations should a person contact it? More details below.

Geneticist: what does he do?

In order to understand who a geneticist is and what he does, it is necessary to clearly understand what genetics is. Genetics is the science of heredity, its patterns and variability. This science originated from the times of the initial stages of gathering and cattle breeding. At a time when people acquired completely new knowledge about growing plants, their viability in a particular environment, harvest volumes, and, finally, taste. When tribes began to domesticate animals, raise livestock and plow fields with the help of animals, we can hear the first echoes of genetics. Therefore, a geneticist is a scientist who studies this science.

The most famous pioneer in genetics was Gregor Mendel.

Since 1865, he conducted experiments on plant hybrids and, when crossing peas, discovered? that a number of traits are inherited. Mendel was constantly criticized and did not believe in his works, but he derived 3 laws.

They were later named after him:

• Law of uniformity of first generation hybrids;
• The law of splitting characteristics;
• Law of independent inheritance of characteristics.

The term “gene” and the name “genetics” were introduced into the lexicon by W. Batson and V. Johansen at the beginning of the 20th century.

There are many branches of genetics, from classical to genetic genealogy.

What does a geneticist do: when should you visit?

A geneticist is a medical specialist involved in the diagnosis, treatment and prevention of pathologies that arise due to heredity. Increasingly, people undergo genetic testing when consultation is needed when planning a pregnancy; this helps to avoid catastrophic outcomes and learn all the risks of conception and birth of a child.

It is especially important to visit a geneticist in cases where:

• Parents have a risk of hereditary diseases;
• The child has been conceived or is planned to be conceived by blood relatives;
• In cases where heredity is unknown;
• When a genetic disease is suspected in an adult or child.

A geneticist treats hereditary diseases caused either by predisposition or sexual relations between blood relatives. The reason that couples who want to conceive a child turn to geneticists is the fact that a doctor of this specialization can assess and calculate the risk of genetic diseases.

Also, the geneticist determines whether potential parents are carriers, and if the answer is yes, he is obliged to clearly explain the possible consequences for the child and the risks of the disease.

A geneticist does not provide targeted treatment, that is, he does not treat a specific organ; his task is to identify or refute the presence of a particular hereditary disease.

Geneticist during pregnancy: what does it do?

The only important reason why future parents turn to a geneticist is the possibility of having an unhealthy child. After all, no parent wants their child to suffer all his life.

Genetics as a medical field has only been studied so deeply in the last 30 years. Let's define the most important concept - the genetic code. The genetic code is a system of letters indicating the composition of proteins in DNA. It has been studied for a long time.

Each person has proteins, which, in turn, have their own structure, laid down by their parents, which determines the color:

• Eye;
• Skin;
• Hair.

The cells don’t stop there, they then produce more proteins, thanks to which people’s height and weight and many other indicators are determined. There are reasons why you should seek genetic counseling. These are failed attempts to get pregnant, frequent, constant miscarriages (most often due to genetic problems of the embryo), in this case, consultations and analysis of the situation, for the most part, solve these problems.

At this age and older, the risk of hereditary diseases such as Down syndrome and others increases. Donating blood for genetic testing during pregnancy is necessary in situations where there is a hereditary disease in one of the parents, drug addiction, alcoholism and taking various drugs in the first trimester of pregnancy, and if the family already has a child with a genetic pathology of any nature.

An ultrasound must be done no later than the 14th week of pregnancy, it is at this time that a geneticist can identify malformations, deviations from developmental norms, in this case, it is possible to treat the child without waiting for his birth, while still in the womb. This is the only salvation in the case when the child is sick, but not full-term, and his premature birth is even worse than the disease itself. The doctor himself can request a genetic blood test if he is not satisfied with the biochemical tests. It is very important to consult a geneticist if the expectant mother has an intrauterine infection. Also, there are diseases that are transmitted only to males or females. In this case, with such a risk, doctors insist on laboratory selection of the child’s sex.

The essence of an appointment with a geneticist

Geneticists select female and male sperm and inject more favorable ones into the uterus. Genetic analysis helps identify risks and give birth to a healthy child. There are various survey options, each of these options can solve certain problems.

For example:

1. Studying the analyzes and pedigrees of the parents of a potential child. Conceiving and giving birth to children is a complex process; the doctor must be responsible for taking the maximum action within his power in cases of risk of genetic diseases.
2. Non-invasive methods - ultrasound reveals the risk of birth with genetic pathologies, but only in the early stages of pregnancy.
3. Chorionic villus sampling is an analysis of the tissue that makes up the placenta. The genetic cells that make up the chorion are the same as those that make up the embryo. Therefore, if there is a pathology in the chorion cells, then the fetus also has it.
4. Amniocentesis is the collection of amniotic fluid, which contains particles of the old epithelium of the embryo. If there are pathologies in the genes of these particles, the child himself has gene defects.
5. Cordocentesis is a blood test from the umbilical cord, performed in utero, in this way the blood of the child is examined.

If there are defects and pathologies, the doctor explains all the possibilities of the disease and the prognosis for treatment and the life of the child.

Hereditary and congenital pathologies significantly reduce a person’s quality of life, shorten its duration, and require competent medical care. Any married couple can be affected by the problem of having a sick child, since people carry the burden of gene mutations from previous generations, and these mutations also arise in the germ cells of the parents themselves.

When should you contact a geneticist?

It is necessary to seek advice from a specialist at the stage of pregnancy planning.

This is especially true for the following couples:

Spouses who are faced with the problem of infertility.

Women who have a second undeveloped pregnancy.

Repeated cases of spontaneous miscarriages.

Identified hereditary diseases in family conditions.

The woman is over 35 years old.

Fetal malformations that were discovered during routine ultrasound screening.

The child may need genetic counseling. Thus, in pediatrics, science makes it possible to confirm or refute chromosomal or hereditary diseases in a child. The baby must be brought to a geneticist if he has mental retardation, disorders in physical or psycho-speech development, congenital defects or autistic disorders.

Don’t think that genetic counseling is some kind of unusual procedure. It belongs to the category of specialized medical services and is aimed at providing assistance to the patient. Its goal is to identify and prevent hereditary diseases and developmental defects.

Help from a geneticist allows you to start timely prevention, including prenatal, and carry out comprehensive prenatal diagnostics of the fetus if there is a genetic risk for the child’s development. If congenital anomalies are confirmed, then the geneticist can give a preliminary prognosis of the child’s development and life. Perhaps the tactics of managing a pregnant woman will be changed, measures will be taken to perform therapeutic or surgical correction of identified disorders.

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An obstetrician-gynecologist is the doctor who most often sends couples for consultation with a geneticist, pediatricians and neonatologists are specialists who recommend consultation with a geneticist for children and newborns.

Reasons for contacting a geneticist may be as follows:

Primary infertility;

Primary miscarriage;

Stillbirth or miscarriage;

Family history of congenital and hereditary diseases;

Marriage between close relatives;

Planning IVF and ICSI procedures;

Unfavorable pregnancy with a risk of chromosomal pathology;

The likelihood of a congenital malformation (according to ultrasound results);

History of acute respiratory viral infections, taking medications, occupational hazards as negative factors influencing the course of pregnancy.

How does an appointment with a geneticist work?

A patient who comes for a consultation will need to go through several stages:

Clarification of the diagnosis.

If there is a suspicion of a hereditary pathology, the doctor will use various research methods to refute or confirm this suspicion: biochemical, immunological, cytogenetic, genealogical, etc. In addition, a study of family history will be required, identifying data on pathologies existing in close relatives. It is possible that more thorough examination of sick relatives will be required.

Forecast. At this stage, the doctor will explain to the family seeking help the nature of the identified disease. The prognosis is directly based on a certain type of inheritance - monogenic, chromosomal, multifactorial.

The conclusion is given to patients in writing, which indicates the health prognosis for the offspring of a particular family. The doctor assesses the risks of having a sick child and informs the spouses about this.

The geneticist’s recommendations boil down to the fact that he gives advice on whether the family should plan the birth of a child, taking into account the severity of the disease, life expectancy and possible risks, both for the health of the baby and the health of the parents. As for the decision whether to have a child or not, the spouses will make it independently.

In their work, geneticists use a variety of complex methods to diagnose possible disorders.

Among them:

Genealogical method, which is aimed at collecting information about the diseases of relatives in several generations.

HLA testing or genetic compatibility study. This diagnostic method is recommended for spouses to undergo when planning a future pregnancy. In addition, it is possible to study the karyotypes of husband and wife and analyze gene polymorphisms.

Preimplantation study of genetic abnormalities in the development of embryos obtained through IVF.

Non-invasive combined screening of serum markers of women and fetuses. This method is performed at the stage of bearing a child and allows you to identify existing chromosomal pathologies.

Invasive methods for diagnosing the fetus are used only when absolutely necessary. Genetic fetal material is obtained using chorionic villus sampling, cordocentesis, or amniocentesis.

Fetal ultrasound is also a fairly informative method and allows you to see gross defects and abnormalities of fetal development. It is performed without fail three times during pregnancy.

Biochemical screening is a mandatory procedure for all women without exception carrying a child. This method allows us to exclude many chromosomal abnormalities, such as Patau syndrome, Edwards syndrome, etc.

Newborn screening is performed to detect cystic fibrosis, galactosemia, phenylketonuria, congenital hypothyroidism, and androgenital syndrome. If markers for these diseases are detected, the child is referred to a geneticist, and he repeats the examination procedure. Once the diagnosis is confirmed, the doctor prescribes appropriate treatment.

In addition to the above methods, a geneticist is able to establish paternity and maternity, as well as biological relationship.

Prevention of hereditary diseases

For preventive purposes in genetics there are three directions:

Secondary prevention comes down to the selection of embryos with defects at the preimplantation stage. In addition, this includes termination of pregnancy if obvious pathology is detected.

Tertiary prevention is aimed at correcting those manifestations caused by damaged genotypes.

When a child is born with existing defects, he most often requires surgical intervention (for congenital defects). Social support and appropriate therapy, as well as lifelong follow-up with a geneticist, are necessary for gene and chromosomal abnormalities.

It makes sense to contact a geneticist even at the stage of pregnancy planning - to identify possible hereditary diseases and chromosomal rearrangements in future parents. This will allow timely prevention of genetically determined diseases in the unborn baby. In addition, it is necessary to contact a geneticist when establishing the fact of pregnancy, since there are a number of hereditary pathologies, the early diagnosis of which leads to termination of pregnancy for medical reasons.

What is the competence of a doctor Genetics

1. Establishing, if possible, an accurate diagnosis.
2. Determination of the type of inheritance in a given family. A minimum of three generations are considered.
3. Calculation of the probability of risk of recurrence of the disease.
4. Determination of an effective method of prevention.
5. Explain everything to the contacted family.
6. The examination includes: special biochemical tests, determination of the chromosome set (to exclude, for example, Down's disease), DNA diagnostics and much more.

What diseases does a Geneticist deal with?

- Adrenogenital syndrome;
- Axioms of medical genetics;
- Diseases with an autosomal dominant type of inheritance;
- Diseases with an autosomal recessive type of inheritance;
- Diseases with an X-linked dominant type of inheritance;
- Human genetics. Medical genetics. Clinical genetics.
- Genetic classification of hereditary diseases;
- Genomics;
- Genomics of pathogenic bacteria and viruses;
- Eugenics;
- The importance of genetics for medicine;
- Clinical diagnosis of hereditary diseases;
- Microcytogenetic syndromes;
- Duchenne-Becker muscular dystrophy;
- Myotonic dystrophy (Steinert's disease, dystrophic myotonia);
- Mitochondrial inheritance;
- Cystic fibrosis;
- Mutations;
- Hereditary predisposition to alcoholism;
- Heredity;
- Neurofibromatosis type 1;
- Features of the hereditary pathology clinic;
- Familial hypercholesterolemia;
- Wolf-Hirschhorn syndrome;
- Down syndrome (trisomy 21);
- Y-chromosome disomy syndrome;
- Klinefelter's syndrome;
- Crying cat syndrome;
- Marfan syndrome;
- Patau syndrome (trisomy 13);
- Triplo-X syndrome (47, XXX);
- Mental retardation syndrome with fragile X chromosome;
- Partial trisomy syndrome on the short arm of chromosome 9;
- Shereshevsky-Turner syndrome;
- Edwards syndrome (trisomy 18);
- Ehlers-Danlos syndrome;
- Drawing up a pedigree;
- Trisomy 8;
- Factors of increased risk of having children with chromosomal diseases;
- Pharmacogenetics;
- Phenylketonuria.

What organs does a Geneticist deal with?

A geneticist does not treat individual organs. It establishes the genetic nature of the disease.

Contact a geneticist if:

The question of the child's gender is of fundamental importance;

A child with genetic abnormalities has already been born;

There were hereditary diseases or developmental defects in the family through one of the spouses;

Marriage is consanguineous;

Mother is over 35 years old;

In the past there were spontaneous miscarriages, infertility, stillbirths;

In the early stages of pregnancy, the mother took medications, underwent chemotherapy, or was exposed to harmful environmental factors (radiation, chemicals).

When and what tests should be done

Determination of the mutant gene responsible for this disease.

What are the main types of diagnostics usually carried out by a Geneticist?

Diagnosis is carried out in each specific case of the disease. The most favorable time for conceiving a child is the end of summer - the beginning of autumn. Staying on the diet, eating foods rich in vitamins, sunshine, and the absence of viral infections - all this has a beneficial effect on the birth of a healthy child.

When making a career, we must not forget that a woman is in the best shape to give birth to healthy children from 18 to 35 years old.

If pregnancy occurs after 35 years, it is necessary to undergo a genetic examination.

It is very important to preserve any information regarding the health history of each family. Most expectant parents have little risk of passing on any genetic defects and never use the services of a genetic specialist. In many cases, the obstetrician will discuss underlying genetic issues with each of these couples.

The best period to meet with a geneticist is, of course, before pregnancy or, in the case of a close relationship, before marriage. If the woman is already pregnant, the geneticist will suggest appropriate prenatal tests and help parents decide whether to have children or not. The advice of a geneticist has saved hundreds of thousands of couples at high risk of having children affected by serious developmental defects.

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Geneticist- a doctor who studies inherited diseases. This specialist is advised to visit all couples planning to have children, as well as women during pregnancy, especially when there is a risk of having a baby with a pathology.

Some are perplexed what a geneticist does during a pregnancy that, at first glance, proceeds smoothly; Why then consult him? The fact is that often children with genetic disorders are born to completely healthy parents who are only carriers of damaged chromosomes or mutations. They may not even be aware of this problem. To avoid such a pitiful fate, they turn to genetic centers.

In what situations do you go to a geneticist?

Consult this specialist in the following situations:

• examination before marriage in order to create healthy offspring;
• pregnancy planning;
• infertility or cases of miscarriages, stillbirths;
• the previous time a baby was born with genetic pathologies;
• other family members have inherited diseases;
• during pregnancy to establish the risk of gestosis, developmental delays, thrombophilia; This is especially true when changes to;
• one of the family members has problems with physical or mental development (short stature, autistic behavior, skeletal deformities);
• oncology in close relatives;
• to establish paternity (when the baby does not look like family members);
• cases when future parents are blood relatives;
• a pregnant woman under 18 years of age or over 35;
• while carrying a child, the woman suffered an infectious disease or had a relapse of a chronic disease for which medications were taken;
• the expectant mother drinks alcohol, drugs, and had x-rays done while pregnant.

Diseases treated by geneticists

Here are just a few diseases that can be diagnosed after genetic testing:

• cystic fibrosis;
• adrenogenital syndrome;
• neurofibromatosis type I;
• Down syndrome;
• Marfan syndrome;
• Patau syndrome;
• mental retardation with fragile X chromosome.

What does a geneticist do during an appointment?

He asks the couple in detail about “family” diseases, that is, whether their immediate relatives: parents, grandparents, brothers or sisters have diabetes, heart disease, etc. In such situations, three generations are considered. A geneticist reviews your medical history card. Based on the information collected, the doctor may order some tests to determine the possible risk. A geneticist interprets the results of screenings done at any stage of pregnancy.

What tests and diagnostic methods are used?

When, based on the collected data on the in-laws, the genetic risk was up to 5%, it is considered low; from 6 to 20% - average. With it, the couple is recommended to undergo one of the prenatal diagnostic methods. If the risk is more than 20%, further examination is mandatory.

Prenatal diagnosis

Non-invasive methods (no surgery). These include:

• . Many defects can be identified at the end of the first and early second trimester of pregnancy. For example, the following: hernias of the anterior abdominal wall, spinal and cranial hernias, extensive brain defects, polycystic kidney disease, undivided fetuses. Due to the importance of the information received, an ultrasound examination should not be neglected and should be done within the time prescribed by the doctor. Usually the procedure is performed three times at 11-12, 20-22, and 30-32 weeks. If there are indications, they are done at intervals of 4 weeks. Doctors have long established a certain relationship between the nature of the defect and the time of its discovery.
• Obtaining alpha protein, produced from the placenta, and other markers, DNA fragments of which are found in a woman’s blood. They are determined at 16-20 weeks. If the content of this substance deviates from the norm, we can presumably talk about the risk of developing a defect of the nervous system in the fetus or the risk of chromosomal pathology.

Invasive methods (with surgery). With their help, fetal cells are isolated for research. Such methods provide fairly accurate results about the condition of the fetus, but there is a threat of termination of pregnancy due to surgical intervention, so they are resorted to in extreme cases, when the risk of developing defects is high. Invasive methods include:

• Amniocentesis(collection and analysis of amniotic fluid). The most common research method. It is carried out at 17-20 weeks. Thanks to this study, the karyotype of the fetus, the content of certain enzymes and hormones, and alpha protein are determined; DNA analysis is performed for chromosomal pathology.
• Cordocentesis. This is the collection of fetal blood from the umbilical cord vessels. It is also carried out only from the 17th week of pregnancy. In this way, blood diseases, immunodeficiency conditions transmitted by inheritance, intrauterine infection of the fetus, metabolic disorders are determined, and the karyotype is revealed.
• Chorionic villus biopsy. The collection is done by puncturing the anterior abdominal wall and amniotic sac. The procedure is carried out for a period of 8 to 11 weeks. It is indicated when one of the parents has a changed karyotype (chromosome set) or the family already has a child with hereditary pathologies.
• Embryoscopy. A study conducted in the first trimester. Special flexible optics are inserted into the cervix to directly observe and evaluate the blood circulation of the embryo from the inside. Embryoscopy is done no earlier than 5 weeks.
• Fetal skin biopsy. It is carried out to diagnose certain skin diseases.

What is karyotype analysis?

This is the study of the number of chromosomes present, their shape and size. Approximately 1-2 weeks after the test, the results will be ready. If everything is in order, then the 46 chromosomes are grouped and designated 46XY for males and 46XX for females. In the case of the presence of pathological changes, the chromosome set may be more or less than 46, pair connections may be disrupted or incorrectly grouped. Such changes are called aneuploidy.

Of course, an examination by a geneticist plays a big role: it allows you to look into the intrauterine development of the fetus and make certain predictions. However, there is a moral and ethical aspect to such analyzes: if, for example, during such an examination, future parents are told that their child has Down syndrome, what should they do? After all, a geneticist does not treat hereditary diseases, but only identifies them.

Often in such cases, mothers are offered to terminate the pregnancy, however, it is believed that from the moment of conception, a life develops inside that has the right to exist. In addition, there are cases when only the probability of risk of developing a particular disease is calculated. But this does not mean that it will necessarily appear.

A geneticist is a doctor whose main task is to identify and treat diseases that develop as a result of various genetic disorders. You should go to an appointment with this specialist if one of the family members has already definitely established or suspects the development of a hereditary pathology. Parents who have given birth to a child with physical or mental disabilities, as well as couples when planning a pregnancy, should contact a geneticist in order to prevent possible problems.

What are the responsibilities of a geneticist?

The geneticist must first make an accurate diagnosis. Then he should identify the type of inheritance in each specific case. His responsibilities include calculating the probability of the risk of relapse of a particular disease. It is this specialist who can determine one hundred percent whether preventive measures can or cannot help prevent the development of a hereditary disease. He must also clearly explain all his thoughts to the patient, as well as to his family members, if any, at his appointment. Well, and, of course, this is exactly what a specialist should conduct, if necessary, all the necessary examinations.

In what cases is it mandatory to see a geneticist?

If the gender of the child is of particular importance to a married couple, then they should visit a geneticist. The same should be done for all those families who have had or still have hereditary diseases or deformities in their family. The presence of a child with genetic disorders in the family is another reason to make an appointment with this doctor. You cannot do without the help of this specialist in the case of consanguineous marriages, as well as if a woman becomes pregnant over the age of thirty-five.

When should you contact a geneticist?

You should contact a geneticist if:

• the question of the child’s gender is of fundamental importance;
• a child with genetic abnormalities has already been born;
• there were hereditary diseases or developmental defects in the family through one of the spouses;
• consanguineous marriage;
• mother is over 35 years old;
• in the past there were spontaneous miscarriages, infertility, stillbirths;
• in the early stages of pregnancy, the mother took medications, underwent chemotherapy, or was exposed to harmful environmental factors (radiation, chemicals).

List of standard examinations for patients with hematological diseases.

Home " Diseases » The doctor is a geneticist and what he treats. What does a geneticist do and when should you contact him?

What does a geneticist treat and what does a geneticist do?

It is known that a geneticist treats hereditary diseases, evaluates the role of genetic factors in the development of pathological abnormalities. In his work, a geneticist uses knowledge about the pathogenesis, clinical signs, and epidemiology of major gene pathologies.

It is important to note that a geneticist treats patients, pre-ordering DNA testing, examination for infectious, cardiovascular and endocrine diseases, prenatal genetic diagnosis of the fetus, which makes it possible to identify congenital defects and abnormalities, and sometimes eliminate them.

What does a geneticist do and what does he treat?

It is well known that a geneticist treats adults, newborns and children in the womb., he also has a wide range of knowledge:

• methods of diagnosis, treatment and prevention of hereditary diseases;
• patterns of pathogenesis and inheritance of pathologies;
• genetically determined cardiovascular, autoimmune, infectious diseases and cancer, methods for their prevention, detection and treatment;
• clinical and cytogenetic characteristics of chromosomal disorders, their increased risk factors in children and methods of therapeutic correction.

It is important that the geneticist treats more than 3 thousand hereditary diseases and helps identify genes:

• color blindness;
• Down syndrome;
• spina bifida;
• hemophilia;
• cystic fibrosis;
• Tay-Sachs disease (early childhood idiocy);
• neurofibromatosis and others.

What does a geneticist treat? He not only detects congenital diseases, his competence includes:

• use of molecular biological, cytogenetic, biochemical and immunogenetic diagnostic methods;
• practical application of genetic engineering technologies;
• participation in prenatal diagnostics and screening programs;
• identification of chromosomal abnormalities and congenital malformations, their prevention and therapy;
• use in clinical activities of the principles of symptomatic, pathogenetic and etiotropic (cell and gene therapy) treatment.

In addition to treating, the geneticist provides counseling to married couples in the presence of a complicated hereditary history in matters of family planning.

Specialists

Rumyantseva Victoria Alekseevna

specializes in medical genetics, treatment, diagnosis of hereditary, congenital diseases and pathologies. Professionally engaged in genetic research. Also conducts: genetic analysis, genetic consultation.

Balashova Maria Sergeevna

Specializes in: syndromic diagnosis of hereditary pathologies in children, treatment of genetic diseases. Professionally performs: drawing up an individual plan for examining married couples for infertility, analyzing pedigrees to identify monogenic diseases in the family. Dr. Balashova Maria Sergeevna has several publications in Russian publications on pharmacogenetics, genetic screening, and minor human congenital anomalies.

Roslova Tatyana Andreevna

Specializes in identifying the genetic nature of various diseases in patients. Professionally carries out research into the following diseases: Wolf-Hirschhorn syndrome, Down syndrome, cystic fibrosis, and provides medical and genetic counseling to families and patients with hereditary and congenital pathologies. Dr. Roslova Tatyana Andreevna actively participates in seminars and is the author of publications on various aspects of medical genetics in scientific journals.

Zhegulina Irina Olegovna

Specializes in the diagnosis, treatment and prevention of possible congenital defects at the genetic level. Provides consultations to women with miscarriage and couples diagnosed with infertility. Consults patients with unexplained genetic pathologies. Provides recommendations on the choice of genetic diagnostics, and also prepares women for the in vitro fertilization procedure. Systematically improves her qualifications, participates in seminars and conferences.

Korchagina Elena

Specializes in medical and genetic counseling, predicting the birth of healthy children, reducing the genetic risk of congenital and hereditary pathologies in newborns, and pregnancy planning. Candidate of Medical Sciences. She defended her dissertation in two specialties - genetics and oncology, in the field of scientific interests - clinical and genetic studies of hereditary predisposition to cancer. Member of the European Society of Human Reproduction and Embryology, Russian Society of Medical Genetics, author of scientific publications in medical journals.

Solovova Olga Alexandrovna

Specialist in the field of genetics. Provides consultations to patients when planning pregnancy, infertility, unsuccessful IVF, miscarriages, miscarriage, etc.; interprets DNA results, excludes hereditary diseases in various pathologies and disorders, explains the nature of the disease, predicts the risks of hereditary transmission of diseases. Olga Aleksandrovna regularly takes advanced training courses.

Pozhitnova Victoria Olegovna

Certified geneticist. Provides genetic counseling to families. Provides an assessment of the influence of genetic factors on the development of a child. Calculates the dosage of medications taking into account the genetic characteristics of the body. Gives recommendations on the prevention of hereditary diseases, professionally carries out prenatal diagnostics.

Zaklyazminskaya Elena Valerievna

Specializes in the diagnosis and treatment of pathological processes caused by hereditary predisposition. Provides medical and genetic counseling, DNA diagnostics of hereditary diseases, and practices clinical and molecular genetics. Observes patients with hereditary arrhythmias and cardiomyopathies. Doctor of Medical Sciences in genetics and cardiology, associate professor, doctor of the highest category, author of more than 80 scientific papers in Russian and foreign publications. Conducts scientific work under a grant from the European Society of Cardiology (University of Lausanne, Switzerland).

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