Also in Soviet times From the 1930s until the second half of the 1960s, genetics as a science was banned, and genetics was persecuted. In a socialist country, it was argued that its citizens could not have hereditary diseases, and talk about human genes was regarded as the basis of racism and fascism.

More than half a century later, ideas about genetics as a medical science and its role in human life have changed significantly, but genetic analysis, karyotyping (clarification of the chromosome set of future parents), hereditary and chromosomal diseases and other concepts are still a "dark forest" for common man. And such processes as pregnancy planning and consultation with a geneticist terrify many couples who want to have a baby or are already at the stage of pregnancy.

In fact, genetic analysis when planning pregnancy can help to avoid many problems associated with the inferiority of the unborn child.

What is genetic analysis?

Genetic analysis is an analysis by which you can see and understand how great the predisposition of the unborn child to genetic and other diseases, as well as how external factors (ecology, nutrition, etc.) affect the development of the fetus in the womb.

A person has several tens of thousands of genes, and each of them plays important role in his life. Not all genes are known to science today. It has even been established exactly which of them lead to mutations.

Each of us is a carrier of a unique set of genes that determine our features in the future. Hereditary characteristics make up a set of 46 chromosomes. A child receives half of its chromosomes from its mother and half from its father. If any of them is damaged, then this is then displayed on general condition crumbs.

To be calm for the normal course of pregnancy and the development of the fetus, it makes sense to contact specialists to study the chromosome set, to do a genetic analysis. Molecular genetic studies will help determine the individual genetic characteristics of the fetus. By examining the individuality of the genes, you can determine the risk of hereditary and other diseases in your offspring.

Doctors advise to carry out genetic analysis even during pregnancy planning, because then the chances of avoiding problems are much greater. But, as a rule, a woman turns to geneticists with a request for advice already during pregnancy on the direction of a doctor or (less often) of her own free will.

When is genetic analysis required when planning a pregnancy?

Medical genetic consultation is required if:

• the age of a woman is more than 35 years, and men - more than 40 (this is the age when the risk of developing mutations and pathologies increases);
• there are hereditary diseases in the family;
• the parents of the unborn child are close relatives;
• the first child was born with development;
• before the pregnant woman had miscarriages, stillbirth children;
• at the time of conception or during pregnancy, the fetus was affected by harmful factors;
• during pregnancy, a woman had an acute viral infection (ARVI, rubella, influenza);
• a pregnant woman is at risk according to the results of a biochemical or ultrasound examination.

Consultation with a geneticist

An important step for future parents is to contact a geneticist. A supposedly healthy couple can simply talk to a geneticist, but there are often good reasons for such a consultation.

In the first case, the geneticist uses the clinical genealogical method, when he collects information about the pedigree and tries to determine as much as possible whether there were any conditions caused by hereditary syndromes. Information about miscarriages, abortions, childless marriages, etc. is entered into the pedigree. After collecting all the data, a graphic representation of the pedigree is made, and then the geneticist conducts an analysis.

The problem with the effectiveness of such research is that, as a rule, we do not know our relatives beyond the second or third generation. Sometimes people do not suspect what caused the death of their distant relative or a newborn baby in the family. Further tactics of the doctor depends on how complete the clinical and genealogical analysis will be. In one case, only such an analysis will be enough to make a prediction about the offspring, in the other, studies of the chromosome set of future parents and other genetic studies will be needed.

Methods for conducting genetic research:

- non-invasive research method

Non-invasive (traditional) examination methods - ultrasound examination and biochemical blood test.

Ultrasound examination is carried out for a period of 10-14 weeks. During the examination, an ultrasound scan can show a congenital pathology in a baby. On early dates pregnancy, a biochemical blood test is also given. With the help of such an analysis, it is possible to assume a hereditary or chromosomal pathology. Repeated ultrasound for a period of 20-24 weeks should be done if, after the tests, there are suspicions of deviations in the development of the fetus. In this way, minor malformations can be detected.

- invasive research methods

Invasive examination methods - amniocentesis, chorionic biopsy, placentocentesis, cordocentesis.

Assign invasive methods in case of suspicion of fetal pathologies. Such surveys can identify 300-400 out of 5,000 genetic pathologies.

Amniocentesis- study . A pregnant woman is pierced in the uterus with a thin special needle to collect amniotic fluid. Assign amniocentesis for a period of 15 to 18 weeks.

Chorionic biopsy- study of the cells from which the placenta will be formed. When conducting such an analysis, the doctor makes a puncture in abdominal cavity or takes the material through the cervix.

Placentocentesis- cell samples from the placenta, which contain fetal cells. Prescribe placentogenesis for later dates pregnancy (in the second trimester) if a woman has had an infectious disease during pregnancy. During the procedure, general anesthesia is given.

Cordocentesis- puncture of the umbilical cord blood of the fetus, which is taken through the uterine cavity. Cordocentesis is prescribed for a period after the 18th week of pregnancy.

As a result of this type of examination, it is likely that the woman may experience complications. Therefore, the genetic analysis of the pregnant woman and the fetus is carried out in a day hospital under ultrasound control and under the supervision of specialists. For prevention possible complications the doctor may prescribe medication.

Especially for Love is simple

Genetic analysis when planning pregnancy is a group of studies that helps determine the likelihood of having a child with genetic abnormalities and malformations. To genetics, as a science, the attitude changed from extremely negative to full recognition. But to this day, genetic studies are not the most common in preparation for conception. More often, a genetic analysis of a woman's blood is performed during pregnancy as part of a mandatory screening study. And in case of developmental anomalies identified during the time, presumably of a genetic nature.

Methods of genetic diagnostics can be non-invasive (clinical genetic modeling, ultrasound diagnostics and biochemical blood analysis) and invasive (amnio-, placento-, cordocentesis and chorion biopsy). All invasive methods carry some threat to the fetus, and involve the collection of material by puncture (needle puncture) and material sampling ( amniotic fluid, cells of the placenta or cord blood). Non-invasive methods are used for research for preventive purposes. Invasive - when verifying a diagnosis suggesting a serious chromosomal abnormality.

Mandatory genetic consultation

Voluntary visits to a geneticist are still rare. Most often, women or couples turn to genetics as part of a mandatory examination. Medical genetic counseling is considered mandatory if:

• over 35 years old, and the future dad has reached the 40-year milestone;
• both or one of the partners are under the age of 18;
• the fetus was exposed to harmful factors (radioisotope irradiation, the action of toxic chemicals or had been ill viral infections, primarily rubella);
• the family has children with congenital anomalies;
• a woman has a history of two or more pregnancies that ended prematurely or stillbirth;
• if in the family one or both parents have relatives with chromosomal abnormalities;
• the child was conceived in a closely related relationship;
• the woman was at risk by passing a blood test or undergoing an ultrasound examination.

If the couple is supposedly healthy, the future parents can simply talk to a geneticist who will ask them about their relatives and talk about possible risks. If the results of the examination revealed high risks of having children with anomalies, a consultation with a geneticist is required.

Genetic blood test

A blood test for genetics is a whole group of studies. Unfortunately, if even very low risks are detected, these examinations do not give a 100% guarantee of the birth of completely healthy offspring. But they allow us to identify cases where the risk of giving birth to sick children, children with deformities and unviable fetuses is very high. It is better to do this as early as possible in order to avoid problems associated with caring for handicapped children and the loss of a child of the 1st year of life. The most informative methods are considered to be:

• DNA diagnostics of specific diseases, such as phenylketonuria;
• karyotyping;
• HLA typing.

The first methods are used if the family has cases of specific ailments (cystic fibrosis, phenylketonuria, and others). The latter are designed to diagnose the risk of developing chromosomal abnormalities in offspring (Edwards, Down, Lenezh, Patau and others syndromes). The latest methods are designed to identify the causes of infertility, incompatibility of spouses in terms of genetics, these methods are used before IVF.

If the risk of developing chromosomal abnormalities is high, then the woman will need to be monitored by a geneticist during the entire pregnancy process. In some cases, if a blood test was taken as part of a mandatory screening study already during the gestation period, with high risks of having children with anomalies, a woman may be recommended invasive examination methods to confirm the diagnosis. And termination of pregnancy, if the diagnosis is confirmed.

Consulting a geneticist when planning a pregnancy is far from uncommon today. The list of indications is wide. It is necessary for couples in the family who have serious hereditary diseases. Also, the help of geneticists is needed in case of unsuccessful previous pregnancies. Analysis of the hereditary material of a married couple will determine the likelihood of having healthy children.

Read in this article

Do I need to consult a geneticist when planning

A visit to a doctor of this specialty is desirable for all people planning a pregnancy. A genetics consultation helps future parents get rid of many worries and anxieties associated with the health of the child. Even in a practically healthy couple with no history of any genetic abnormalities, there is always a risk of having a child with pathologies, the difference is only a fraction of the probability.

• The parents themselves or their close relatives have a diagnosis associated with genetic abnormalities. These can be diseases such as schizophrenia or other mental pathologies, Alzheimer's disease, Down's syndrome and many others. A mandatory indication for genetic analysis is the presence of a child already born by a couple or one of the spouses with a genetic anomaly.
• When collecting an anamnesis, it turns out that a woman and a man have been unsuccessfully trying to conceive a baby for a long time (more than 1 year), while no pathologies are revealed by the gynecologist and andrologist.
• Previous attempts to give birth to a child ended at different times, or the pregnancy froze, or the fetus was born unviable.
• A risk factor is a pregnancy that occurs in a woman who has not reached the age of 18, and also if both or one of the parents have crossed the 40-year mark.
• A genetics consultation is necessary if the spouses are related by blood.
• Very often, deviations can be associated with labor activity one or both spouses. For example, if the nature of the work involves frequent interaction with harmful or toxic substances.
• Genetic pathologies can be caused by the need for one of the spouses to accept certain medicines. Usually these are potent drugs, for example, in diseases of the nervous system, mental disorders, oncological ailments.

The reason for consulting a geneticist is a suspicion of genetic thrombophilia. This disease is characterized by a large number blood clots for a long period of time, which during pregnancy can provoke bleeding, miscarriage, fetal fading.

Genetic analysis for congenital thrombophilia is prescribed in the presence of the following indications:

• stroke or myocardial infarction before the age of 45 in relatives or in a history of a woman;
• Varicose veins;
• problems with pregnancy or intrauterine development of the fetus;
• placental abruption in history.

The need for certain tests is determined purely individually and depends on the clinical picture.

Types of tests for genetic diseases in a couple

Pathologies can be detected by using various diagnostic methods. To obtain a reliable picture, a combination of several types of analyzes may be required.

Karyotype analysis or cytogenetic study

Karyotyping is carried out in order to determine the genome of the spouses, i.e. quantitative and qualitative composition of chromosomes. During life, the human karyotype does not change, so this analysis is done only once.

Deviation in the number of chromosomes from the norm in the direction of increase or decrease can confirm, for example, Down's syndrome and other hereditary diseases in parents. Including those that are asymptomatic, for example, Klinefelter's syndrome, Shereshevsky-Turner.

Karyotype analysis allows not only to determine the quantitative composition of chromosomes, but also to identify defects in their shape and size, as well as to diagnose breaks and other abnormalities. Such pathologies of the genome of even one of the spouses lead to the inability to bear a viable fetus or to complete infertility. In addition, damaged genes are the cause of the development of various serious illnesses in an unborn child.

Karyotyping is prescribed in the following cases:

• lag in sexual development of one of the future parents;
• amenorrhea in girls over the age of 15;
• earlier onset of menopause;
• having a history spontaneous interrupts early pregnancy;
• repeated unsuccessful IVF attempts;
• the presence of consanguinity between the spouses;
• the diagnosis of infertility in one of the spouses;
• oligozoospermia or azoospermia in men.

For karyotyping, blood is taken from a vein, the analysis is taken on a full stomach.

These analyzes allow to reveal a wide range of hereditary diseases. In the course of molecular genetic diagnostics, a study of the features of the DNA structure is carried out.

This is an extensive and diverse group of methods designed to detect pathologies in the structure of a separate section of hereditary material in the form of an amino acid sequence. Thanks to such analyzes, a geneticist can diagnose such dangerous diseases as hemophilia, cystic fibrosis, hearing loss and many others.

The most popular among all molecular genetic methods is the diagnosis of PCR (polydimensional chain reaction). This is due to the high accuracy of the analysis results and short terms holding. In the course of the study, a certain section of DNA is selected, which, with the help of special preparations, is repeatedly duplicated.

Molecular genetic diagnostic methods are the most accurate in determining genetic diseases, and their results are recognized as the most informative.

The method is based on the fact that the DNA structure of any person does not change during life, while any cell of the body contains the same molecule. This makes it possible to use cells obtained from any part of the body for analysis: blood, buccal epithelium, hair, epidermal particles, etc. can be taken for the study.

The advantage of DNA analysis is that the defective gene can be detected before the onset of clinical symptoms of the disease, as well as in healthy people who are carriers of the gene mutation.

The disadvantage of the study is its rather high cost.

Watch the video about the consultation of a geneticist before planning a pregnancy:

Cytogenetic analysis

This type of study is based on the analysis of the structure of chromosomes using special microarrays that are applied to the DNA chips of lymphocytes isolated from the blood. Cytogenetic analysis is used quite rarely, because it takes a long time - the result becomes known only within a month.

But in the case of a woman's history of repeated episodes of miscarriage or a diagnosis of infertility, this type of study is the most informative. In addition, it helps to clarify the diagnosis in children in case of a suspected genetic disease.

Cytogenetic research helps to identify the following ailments:

• Translocation of chromosomes, i.e. changes in their structure. Sometimes it is a hereditary pathology, but it can occur during fertilization or during the maturation of germ cells in both men and women.
• Mosaicism of the sex chromosomes, i.e. pathological association of different genetic materials. Such an anomaly is a symptom of Klinefelter's syndrome, Turner's syndrome and other diseases.

FISH method (fluorescent hybridization)

This method is rarely used in Russian practice, although it has high sensitivity and accuracy. For analysis, a single chromosome or its segment is used, which are marked with special luminous markers to identify the area with defective genes.

Genetic tests are recommended for all couples planning to have a child, since gene mutations can occur even in apparently healthy people.

Very often, a person does not have any signs and symptoms of genetic pathologies, but at the same time he may be carriers of a defective gene.

If there are cases of hereditary pathologies in the family of at least one of the spouses, an appeal to a geneticist and a comprehensive examination is mandatory. These pathologies primarily include:

• thrombophilia;
• cystic fibrosis;
• hearing loss;
• hemophilia and many others.

Modern methods of molecular genetic studies of married couples make it possible to determine not only gene mutations and the presence of hereditary diseases, but also a predisposition to many severe pathologies at the genetic level.

These are diseases such as:

• and other endocrine disorders;
• atherosclerosis of cerebral vessels;
• bronchial asthma;
• oncological diseases;
• osteoporosis and many others.

It is especially important to undergo a genetic examination for couples who decide to conceive a child in adulthood.

A person does not always have an idea about the state of health of his relatives and may not even suspect that he is a carrier of a damaged gene. Consulting a geneticist during pregnancy and conducting a genetic study in the early stages will help to avoid many risks for the mother and the unborn child, and will allow you to plan your pregnancy correctly.

A bit of a glimpse into the future allows genetic analysis. Whether this examination is necessary when planning a pregnancy, whether it is worth fearing and what the tests will show - this is discussed in detail in our material.

genetic lottery

Every year, scientists and the public learn more and more about human genetics. This allows you to avoid many troubles, to prevent them. But still genetics remains one of the most mysterious sciences.

Genetics is the science of the patterns of heredity and variation. For three decades in our country (since the mid-30s of the 20th century), scientists involved in this area of ​​science have been persecuted, up to a complete ban on genetic research. Finally, the taboo on genetics was lifted in the USSR only in 1965.

So, practice shows that a child with genetic abnormalities can be born to absolutely healthy parents, regardless of their lifestyle and place of life, habits and age. At the same time, previous and subsequent children in such a family may be without any features.

By Russian statistics, about 5% of children in our country are born with gene abnormalities of varying severity and manifestations. Please note that their presence does not always mean a catastrophe for the child and his loved ones.

The main purpose of genetic analysis when planning a pregnancy is to identify possible genetic abnormalities that a child may inherit, and, therefore, increase the chances of taking measures that contribute to the birth of a healthy baby.

At-risk groups

Certain genetic abnormalities can also appear in a child born from healthy parents. But there are people who fall into an increased risk group:

• if the expectant mother is over 35 years old, and the future father is over 40 years old;
• if the potential parents are closely related. It must be remembered that geneticists and cousins ​​are considered close, and therefore dangerous in terms of genetic deviations in descendants from such marriages. Third cousin relationship, according to geneticists, no longer poses a danger;
• if a child with genetic defects has already been born in the family;
• if at least one of the parents has an established genetic pathology or suspicion of it;
• if the girl previously had or the birth of a dead child;
• if one of the parents was exposed to harmful factors (for example, radiation or chemicals);
• if the time of conception coincided with taking medications that are incompatible with pregnancy.

Even if none of the future parents fall into the listed risk groups, doctors advise undergoing genetic testing. You may or may not know the dangerous facts that may lead to genetic pathologies in the unborn child, or deviations can only be detected during appropriate examinations and do not manifest themselves in any way.

What is included in the genetic analysis when planning a pregnancy

At the first stage, the specialist will analyze the pedigree of future parents and collect the most complete information about their lifestyle, the harmful factors they encountered, etc. But since this analysis is carried out on the basis of the words of the couple themselves, who may not be aware of, for example, hereditary diseases, this is not enough for a conclusion.

Try to provide the doctor with the most complete and frank information on the questions that he will ask you. The slight insanity of your great aunt can only seem sweet and funny to you, but the geneticist will appreciate it from a completely different position.

The second stage of genetic analysis may include blood tests for biochemistry, examinations by specialized specialists (for example, a neurologist, therapist,).

The third stage is special chromosomal analyzes of each of the future parents.

Genetic tests during pregnancy

Regardless of whether future parents consulted a geneticist before conception or not, the girl goes through a genetic test.

Expert opinion:

Belokurova Maria,obstetrician-gynecologist, reproductive specialist, doctor ultrasound diagnostics, Ph.D. Center for Reproductive Health "SM-Clinic" in per. Raskovoy, 14:“The term “genetic analysis” refers to several types of analyzes. Firstly, this is the determination of the karyotype (that is, the structure and number of chromosomes) of future parents. This analysis is recommended to take before planning pregnancy. Secondly, this is genetic screening, which is performed on already pregnant girls. Currently, all expectant mothers, regardless of age and lifestyle, undergo genetic screening of the first trimester (the so-called “double test”) for a period of 11-13 weeks, which includes ultrasound and determination of hCG and PAPP protein levels in the blood. Based on the results of this screening, a risk group of patients with possible genetic abnormalities of the fetus, such as Down syndrome and others, is identified. If a high risk is identified, a consultation with a geneticist is recommended to resolve the issue of the need, timing and methods of additional examination (analysis of amniotic fluid, chorionic villi, etc.) for more accurate diagnosis Problems. For a period of 16-18 weeks, a second genetic screening (“triple test”) is performed, which also includes ultrasound and a blood test for alpha-fetoprotein, hCG and estriol. At the 20-21st week of pregnancy, the III obligatory ultrasound of the fetus is performed, which excludes fetal malformations, since by this time all the organs of the unborn baby are formed and then only their growth occurs. In addition, there is currently the newest way to genetically analyze the fetus, when blood future mother fetal blood cells are isolated and its karyotype is determined from them.

What do geneticists say?

Genetics is not mathematics. Even the most qualified specialist in this field, who has the most modern and accurate equipment for analysis, will never make 100% predictions, whether positive or negative. The fact is that, firstly, several thousand diseases that are inherited have already been discovered, and hundreds more are established every year, and, secondly, it is impossible to predict for sure how exactly the genes of the parents in the child will be combined. Therefore, when voicing the results of examinations, geneticists use the wording "low risk", "medium risk" and "high risk".

Low risk is a very good indicator. Don't ask the geneticist for a more accurate prediction.

In the conclusion of the geneticist, you will find the percentage of genetic risks. How to decrypt them:

• Up to 10% - low risk. This is the best possible option.
• 10-20% - medium risk. These data will require careful medical monitoring throughout pregnancy.
• Over 20% is a high risk.

It is clear that when planning future pregnancy Both prospective parents must be tested. The reason is simple - the genetic contribution of each parent to the child's genome is almost exactly 50%.

Some excess of women's contribution is explained physiological characteristics its gametogenesis. In the egg there are mitochondria - organelles that have their own hereditary apparatus, subject, like any DNA, to the mutation process. For this reason, some diseases, called mitochondrial diseases, are transmitted exclusively through the female line.

As a rule, genetic studies are carried out once. You can do them at any age. The genetic constitution of a person, like fingerprints, does not change throughout life. Repeated analyzes are prescribed only when there are doubts about the correctness of the results. previous research.

Genetic examination married couple begins with a visit to a genetic clinician. He collects anamnesis. The purpose of such an interview is to find out if the family belongs to a genetic risk group and to appoint, if necessary, a laboratory examination.

Risk factors may be relatedness of spouses(even remote), problems with relatives (the birth of a sick child or cases of miscarriage), work associated with radiation, chemical production or other harmful factors. Mandatory studies carried out at this stage are rather of a general clinical nature. This

• a routine detailed blood test;
• biochemistry;
• gynecological smear;
• HIV tests;

Examinations for infections of the TORCH group (toxoplasmosis, rubella, cytomegalovirus, herpes, urogenital infections - ureaplasmosis, chlamydia, mycoplasmosis, etc.) have become routine practice. The most accurate method in this case is the PCR method. Enough conditionally, genetic tests include the determination of the blood group and the Rh factor of the parents needed to exclude possible rhesus conflict during pregnancy.

What kind of examinations should be done before conceiving a child?

These tests are carried out for specific indications, but it is quite possible to conduct them at the request of a married couple. They can be divided into two groups.

Kinds

Karyotyping

This is a cytogenetic study of the chromosome set of spouses. Indications for him:

1. infertility of unknown origin or habitual miscarriage;
2. the birth of a previous child with a chromosomal pathology;
3. anomalies of sexual development;
4. Carriage of karyotype anomalies (chromosome set) previously diagnosed in relatives.

Chromosomal abnormalities include inversions and translocations- changes in the structure of the chromosomes of one of the spouses. Although such regular anomalies are present in every cell of the body, outwardly such a situation does not manifest itself in any way.

Clinically, a person may be healthy. But in the course of gametogenesis, such a “carrier” produces eggs or spermatozoa that carry an excess or deficiency of chromosomal material. During fertilization, a zygote appears, carrying an initially unbalanced chromosome set. The consequences are sad - miscarriage or the birth of a child with severe pathology.

Reference: Contrary to popular belief, the age of future parents is NOT an indication for the study of the karyotype of spouses.

Indeed, for women after 30-35 years of age and for men after 40 years of age, the risk of having a child with a trisomy (an extra chromosome) increases exponentially. But the reason for this is the nondisjunction of chromosomes directly in the developing germ cells.

At the same time, the study of the karyotype, that is, the somatic cells of the peripheral blood, is completely uninformative. But it is extremely important in this case to carry out prenatal diagnosis - a study of the chromosome set of the emerging fetus.

In general, cytogenetic analysis is a reliable and proven method, but its resolution is still limited.

Molecular cytogenetic

This test combines standard procedure obtaining preparations of chromosomes and modern molecular methods of working with DNA.

The method is able to establish with great accuracy the nature of chromosomal rearrangements and diagnose anomalies that are inaccessible to classical cytogenetics. The need for such a precise analysis depends on the specific situation.

DNA diagnostics

This is a group of methods using PCR (polymerase chain reaction principle). They are used to identify the carriage of both monogenic diseases (Huntington's chorea, achondroplasia) and multifactorial (diseases with a hereditary predisposition) - diabetes, rheumatoid arthritis, etc.

DNA sequencing method

This method has come into practice in the last decade. He directly determines the nucleotide sequence of DNA. It also detects mutations at the level of one base pair - point mutations within a single gene. The accuracy of this method is equal to the theoretically possible limit. Such a test is able to detect the carriage of monogenic diseases inherited according to the laws of Mendel. Until quite recently, there were no reliable methods of laboratory diagnostics for this at all.

Specific Methods

Otherwise, these methods are called HLA typing methods. They allow you to determine how suitable (or not suitable) spouses are for each other immunologically. Indications here are, as a rule, familial infertility of unknown origin or cases of miscarriage already in the anamnesis of a woman, which are not associated with either chromosomal abnormalities or gynecological causes.

Modern studies have shown that in some cases spontaneous abortions, complicated pregnancies and the appearance of initially weakened children are caused by an immunological conflict between mother and fetus.

With similar HLA phenotypes of the spouses, the woman's body takes the developing fetus not for a normal embryo, protected placental barrier, but for its own tissue, in which undesirable changes have occurred, and tries to reject it.

The test for genetic compatibility is precisely designed to predict the development of such a situation and take the necessary measures in time. Unfortunately, the disadvantages of this method are its high cost and insufficient information content.

Preparation for the event

No specific preparation is required for spouses. Externally the material sampling procedure looks like an ordinary blood sampling from a vein.

Prior to this, it is desirable that the last meal occurred no later than 12 hours before the visit to the laboratory. If this simple recommendation is neglected, then the blood may turn out to be "chylous", that is, saturated with fat. It doesn't have of great importance for chromosomal analysis, where not the blood itself is examined, but the cell culture obtained from it, but it may interfere with DNA diagnostics or biochemical studies.

How to interpret the results?

It happens that spouses refuse to conduct genetic research, fearing, often without any reason, a terrible diagnosis. But the task of geneticists is not to make a diagnosis as an end in itself. Having found out the genetic constitution of the spouses, the medicine of the XXI century is already able to take many necessary measures.

By the way, the frightening term "hereditary disease" is now outdated. It is customary to talk not about “hereditary”, but about genetically determined diseases that are quite realistic to prevent or treat. The interpretation of the results is in the competence of the geneticist., clinician. He will compare the information received and give all the necessary recommendations.

Where to donate?

The specificity of genetic pathology lies in the fact that many of its manifestations are orphan, that is, rare diseases. Therefore, their diagnosis is carried out in specialized centers, in a few large cities.

But married couples can apply to the city or regional medical genetic consultation, Family Planning Center or Marriage and Family Service. There, spouses can undergo examinations available in their region, or receive a referral to a specialized center.

This brief review is far from exhausting all the possibilities available to modern medical genetics. To spouses who think in advance about the health and well-being of children, I will tell you a secret - the future has already come.