Genetic studies before pregnancy. Are genetic tests required for both future parents?

For teenagers
29.09.2019

Also in Soviet times, from the 1930s until the second half of the 1960s, genetics as a science was banned and geneticists were 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 medical science and its roles in human life have changed significantly, but genetic analysis, karyotyping (determining the chromosome set of future parents), hereditary and chromosomal diseases and other concepts are still “ dark forest" For common man. And processes such as pregnancy planning and consultation with a geneticist are scary for many couples who want to have a child or are already at the stage of pregnancy.

In fact, genetic analysis when planning pregnancy can help 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 is, as well as how they affect external factors(ecology, nutrition, etc.) on 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 characteristics in the future. Hereditary characteristics comprise 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, this is then displayed on general condition crumbs.

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

Doctors advise carrying out genetic analysis while planning pregnancy, since then the chances of avoiding problems are much greater. But, as a rule, a woman turns to geneticists with a request for consultation 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 mandatory if:

  • a woman’s age is more than 35 years, and a man’s age is 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;
  • the pregnant woman had previously had miscarriages and stillbirths;
  • during conception or during pregnancy the fetus was exposed to harmful factors;
  • during pregnancy, the woman suffered from an acute viral infection (ARVI, rubella, influenza);
  • a pregnant woman is at risk based on 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 serious reasons for such consultation.

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

The problem with the effectiveness of such research is that we, as a rule, do not know our relatives beyond the second or third generation. Sometimes people have no idea why they died distant relative or a newborn baby in the family. The doctor’s further tactics depend on how complete the clinical and genealogical analysis is. In one case, only such an analysis will be enough to make a prognosis regarding the offspring; in another, 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 analysis blood.

Ultrasound examination is carried out at 10-14 weeks. During the examination, an ultrasound may show the baby congenital pathology. In the early stages of pregnancy, a biochemical blood test is also taken. Using this analysis, it is possible to assume a hereditary or chromosomal pathology. A repeat ultrasound at 20-24 weeks should be done if, after the tests, there are suspicions of abnormalities in the development of the fetus. In this way, minor developmental defects can be detected.

- invasive research methods

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

Invasive methods are prescribed if fetal pathologies are suspected. Such examinations make it possible to identify 300-400 out of 5,000 genetic pathologies.

Amniocentesis- study . Pregnant thin woman special needle make a puncture in the uterus for selection amniotic fluid. Amniocentesis is prescribed at 15 to 18 weeks.

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

Placentocentesis— samples of cells from the placenta that contain fetal cells. Placentocenesis is prescribed for later pregnancy (in the second trimester) if a woman has been ill during pregnancy infectious disease. During the procedure, general anesthesia is given.

Cordocentesis- puncture cord blood fetus, which is removed through the uterine cavity. Cordocentesis is prescribed after the 18th week of pregnancy.

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

Especially for Love is simple

When planning a pregnancy, genetic testing plays a very important role, as it makes it possible to minimize the likelihood of having a baby with any pathologies. Unfortunately, most embryos die in the early stages precisely because of various anomalies and genetic failures. What this examination consists of, you will find out further.

For some couples, consultation with a geneticist during preparation for conception is mandatory:

  • if any of the parents in the family had genetic diseases,
  • husband and wife are related to each other,
  • previous pregnancies ended in stillbirth, miscarriages, there was a frozen pregnancy,
  • the couple has children with developmental defects,
  • age: woman less than 16 or more than 35 years old, man more than 40 years old,
  • at least one of the parents was in contact with radiation, chemicals which can negatively affect the conception and development of the baby,
  • one of the spouses took medications that are incompatible with pregnancy,
  • a couple has been unable to conceive a baby for 12 months or more.

Important: one of the main reasons for miscarriage is genetic incompatibility between husband and wife. This happens if the HLA (this is a human leukocyte antigen) of a man largely coincides with the HLA of a woman. As a result of this combination, the woman’s body perceives the embryo as a foreign body, rejecting it.

The main task of genetic research when planning a pregnancy to determine the compatibility of spouses is to identify discrepancies in the chromosomes of future parents. And the more discrepancies, the higher the chance of carrying and giving birth to a healthy baby.

What does a consultation involve when planning a pregnancy?

Even a healthy person can be a carrier of damaged genes

At the appointment, the geneticist will conduct a thorough survey of the couple about past illnesses, lifestyle, chronic illnesses, as well as the health of the husband and wife’s relatives. The specialist needs all this information in order to prescribe an examination for future parents. As a result of the tests, the geneticist individually makes a genetic prognosis for the child’s development, and also determines the risk of developing diseases and gives recommendations for pregnancy planning.

If a married couple is at risk, they need to undergo cytological examination(in order to determine the quantity and quality of chromosomes), a man needs to take a test (to exclude possible pathologies in sperm), also need to go through HLA - typing(to determine the compatibility of spouses).

There are 3 levels of risk, which are determined based on the results of a genetic study:

  • low (up to 10%) – the couple will have a healthy baby,
  • average (10-20%) – the possibility of some pathologies of fetal development is not excluded. Therefore, the woman will need to be monitored during pregnancy,
  • high - in this case it is better to refrain from pregnancy, since there is a high probability of having a baby with serious pathologies (but you can use it).

What is the essence of cytogenetic analysis?

Cytogenetic analysis is a blood test of spouses, which makes it possible to:

  • Conduct an analysis of the chromosome set of a man and a woman.

Even an absolutely healthy person can be a carrier of some chromosomal rearrangements and not be aware of it. This will not affect his health in any way, but it may not have the best effect on the child’s development.

  • Assess the degree of risk for next pregnancies taking into account past complications (miscarriages, missed pregnancies, birth of children with developmental anomalies).
  • Prescribe and explain the need for prenatal diagnostics in future pregnancies.

This type of diagnosis involves conducting tests during the process of bearing a child. It allows you to clarify the condition of the fetus, as well as determine its chromosome set.

Interesting: chromosomes can only be seen under a microscope certain stages cell division. Therefore, in order to study the chromosome set of future parents, blood is taken from them, from which lymphocytes are isolated. Next, the cells are stimulated to begin dividing and at a certain stage they are treated with a special solution that stops division precisely at the stage when chromosomes are visible.

A special dye is then used to give each individual chromosome a specific shape. A geneticist studies 11-13 chromosomes to identify changes in the karyotype (set of chromosomes).

Genetic testing methods

After the woman has registered, the gynecologist conducts a thorough interview and studies the patient’s outpatient card to get an idea of possible risks for fetal development.

Sometimes even at such early stages a pregnant woman is referred for consultation with a geneticist. The period at which a pregnant woman needs to see a geneticist depends on the indications:

All genetic testing methods are divided into 2 groups: invasive and non-invasive.

Non-invasive methods

The first ultrasound examination is carried out at 11-12 weeks. During this period, it is already possible to identify some fetal malformations. This may be indicated by thickening of the fetal nuchal region (often a sign of Down syndrome).

Women with similar ultrasound results are referred for additional studies, which make it possible to obtain a sample of cells from the placenta in order to reliably determine the chromosome composition of the fetus.

The second ultrasound examination is carried out at 20-22 weeks. During this period, deviations in the development of the face, arms and legs can be identified, as well as internal systems and fetal organs.

Ultrasound at 30-32 weeks allows you to assess the condition of the circulatory system, as well as determine delays in fetal development.

This is how amniocentesis is performed.
  1. Biochemical blood test (screening)

The embryonic tissues of the fetus produce special proteins: protein (PAPP), human chorionic gonadotropin(hCG), alphafetoprotein (AFP). By changes in the concentration of these substances in the blood of a pregnant woman, various pathologies of fetal development can be determined.

Such studies are carried out within a certain time frame. PAPP level and hCG is determined at 10-13 weeks. AFP level – at 16-20 weeks. If the test results are outside the normal range, the woman is referred to a geneticist.

Invasive diagnostic methods

These studies are carried out solely on compelling reasons medical indications, as they can harm the health of women and children. Invasive diagnostics involves the collection of material (umbilical cord blood, placenta cells, amniotic fluid) from the uterus to determine the karyotype of the fetus and exclude or confirm diagnoses of developmental delay.

These studies are carried out in a hospital under ultrasound guidance. After the tests, the woman remains under the supervision of specialists for another 3 hours. Sometimes certain medications are prescribed to a pregnant woman to prevent complications. Diagnostic methods have been developed to identify 300 of the 5,000 existing hereditary diseases.

TO invasive research includes:

  1. Chorionic villus biopsy

This is the collection of cells from the placenta. It is carried out for a period of 9-12 weeks. The material is collected through the woman’s abdominal wall. Results are obtained 3-4 days after the study. The risk of miscarriage after chorionic villus sampling is about 2%. This method has advantages: early date, quick results, which allows us to identify serious pathologies fetal development and termination of pregnancy in the early stages.

  1. Amniocentesis

This is a collection of amniotic fluid at 16-24 weeks. The invasive method is the safest, since the risk of miscarriage after amniocentesis is only 1%. But there are also some disadvantages: the cells obtained after collection are not enough for analysis. They need to reproduce, and for this they need to spend a lot of time - about 2-6 weeks.

  1. Cordocentesis

Cord blood analysis is a highly informative method that takes about 5 days to obtain results. It is carried out at 22-25 weeks.

  1. Placentocentesis

This analysis involves collecting placental cells for research. It is carried out for a period of 12-22 weeks. The risk of complications after the analysis is 3-4%.

All of the above examination methods are carried out under anesthesia and under strict ultrasound control.

Genotype of father and mother when planning pregnancy

There are two main concepts in genetics: phenotype and genotype. A genotype is a set of genes. Phenotype – external manifestations a specific trait that depends both on the genotype and on external factors.


Ultrasound at 9-11 weeks reveals abnormalities in fetal development

A person has about 35 thousand genes, which are unique, just like fingerprints. The study of the genotype makes it possible to find out the genetic characteristics of a person, his heredity, compatibility with another person, and predisposition to many diseases.

People with the same blood type can have completely different sets of genes.

Interestingly, there are several surprising patterns:

  • if mom and dad have the first blood group, the baby will only have the first group,
  • if mom or dad has type 1, the child cannot have blood type 4,
  • If at least one of the parents has a fourth blood group, the baby cannot have a second.

Prevention of genetic abnormalities of the fetus

IN last years When planning pregnancy, periconceptional prophylaxis is widely practiced, which makes it possible to significantly reduce the likelihood of having a baby with any congenital anomalies development. Periconceptional prophylaxis assumes:

    1. Examination of future parents before conception, which makes it possible to identify and treat various diseases. Infections, hormonal imbalances, malfunctions endocrine system may adversely affect conception and the formation of organs and systems of the fetus.
    2. Taking multivitamin complexes 2-3 months before the expected conception. The preparations must contain: B vitamins, folic acid, ascorbic acid, vitamin A.
    3. Genetic testing when planning pregnancy allows you to identify various pathologies of fetal development in the early stages.

4. Extremely undesirable consanguineous marriages: The closer the relationship between husband and wife, the higher the risk of having a child with serious developmental abnormalities.

Consulting a geneticist when planning a pregnancy is far from uncommon today. The list of indications is wide. It is necessary for couples who have serious hereditary diseases in the family. Also, the help of geneticists is necessary 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

Is genetic counseling necessary when planning?

A visit to a doctor of this specialty is advisable for all people planning a pregnancy. Consultation with a geneticist helps expectant parents get rid of many worries and anxieties associated with the child’s health. Even for 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 disorders. These could be diseases such as schizophrenia or other mental pathologies, Alzheimer's disease, Down syndrome and many others. A mandatory indication for genetic analysis is the presence of a child already born to the couple or one of the spouses with a genetic anomaly.
  • When collecting anamnesis, it turns out that the woman and man long time(more than 1 year) are trying unsuccessfully to conceive a baby, and no pathologies are detected by the gynecologist and andrologist.
  • Previous attempts to have a baby ended in different dates, either the pregnancy died out, or the fetus was born non-viable.
  • A risk factor is pregnancy occurring in a woman under 18 years of age, as well as if both or one of the parents have crossed the 40-year mark.
  • Consultation with a geneticist 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 may be caused by the need for one of the spouses to accept certain medicines. Usually these are potent drugs, for example, for diseases nervous system, mental disorders, cancer.

The reason for consultation with a geneticist is a suspicion of genetic thrombophilia. This disease is characterized by the formation large quantity blood clots over a long period of time, which during pregnancy can provoke bleeding, miscarriage, and fetal death.

Genetic analysis for congenital thrombophilia is prescribed if the following indications exist:

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

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 identified by using various methods diagnostics To obtain a reliable picture, a combination of several types of analyzes may be required.

Karyotype analysis or cytogenetic study

Karyotyping is carried out to determine the genome of spouses, i.e. quantitative and qualitative composition of chromosomes. A person’s karyotype does not change throughout life, so this analysis is done only once.

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

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 diagnose breaks and other anomalies, etc. 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 cause the development of various serious diseases in the unborn child.

Karyotyping is prescribed in the following cases:

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

To carry out karyotyping, blood is drawn from a vein, and the analysis is taken on a full stomach.

These analyzes allow us to identify a wide range of hereditary diseases. During molecular genetic diagnostics, the peculiarities of DNA structure are studied.

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

The most popular among all molecular genetic methods is PCR diagnostics(polysized chain reaction). This is due to the high accuracy of the analysis results and short terms

carrying out. During the research process, a specific section of DNA is selected, which is duplicated many times with the help of special preparations. Molecular genetic diagnostic methods are the most accurate in determining genetic diseases

, and their results are considered to be as informative as possible.

The method is based on the fact that the DNA structure of any person does not change throughout life, while every cell of the body contains the same molecule. This allows you to use cells obtained from any part of the body for analysis: blood, buccal epithelium, hair, epidermal particles, etc. can be taken for research. The advantage of DNA testing is that the defective gene can be detected before it appears. clinical symptoms diseases, as well as healthy people

who are carriers of a gene mutation.

The disadvantage of the study is its relatively high cost.

Watch the video about genetic consultation before planning a pregnancy:

Cytogenetic analysis

This type of research is based on analysis of the structure of chromosomes using special microarrays that are applied to DNA chips of lymphocytes isolated from the blood.

Cytogenetic analysis is used quite rarely, since it takes a long time - the result becomes known only within a month.

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

FISH method (fluorescence hybridization)

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

Genetic tests It is recommended to take it to all married couples planning to have a child, since gene mutations can occur even in practically healthy people.

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

If there are cases of hereditary pathologies in the family of at least one of the spouses, contacting a geneticist and undergoing a comprehensive study is mandatory. Such pathologies include primarily:

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

Modern methods of molecular genetic research 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;
  • cerebral atherosclerosis;
  • bronchial asthma;
  • oncological diseases;
  • osteoporosis and many others.

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

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

Literally instantly, in the very first minutes after a woman finds out about her pregnancy, she begins to live in a new way, using the confidence that if she feels good, her baby will feel good too. Now she will take care of herself, come every two weeks to see the doctor (and if the pregnancy is difficult, then every week), collect everything necessary tests. If a woman is responsible about family planning, then she will think about all this even before she becomes pregnant. And he will take the necessary tests in this situation in advance. One of these is genetic analysis when planning pregnancy. Let's try to figure out what it is and why it is needed.

What is genetic analysis: geneticist when planning pregnancy

Geneticists study genes that are responsible for how hereditary information will be transferred and embodied in human DNA.

They can tell in advance what the result will be after fertilization of the egg and sperm, what characteristics will be dominant in the future person. And most importantly, you can find out what abnormalities and diseases may appear after such fertilization. That is why, if possible, it is better to do this analysis before you become pregnant, so that there are no unnecessary consequences. And if necessary, future parents will have to undergo treatment for hidden infections.

Why is this necessary when planning a pregnancy?

A woman wants to be sure that her future pregnancy will pass Fine. She wants to understand and know in advance that with the development of the fetus, as well as the health of the baby after his birth, everything will be fine. Therefore, it will be very useful for her to consult a geneticist when planning a pregnancy. And it won’t be a waste of effort, time and money.

Genetic tests are special procedure examination, which can determine in advance negative factors in the health of a woman seeking to become a mother, and which can affect the development of the unborn child. Science knows many types of genes that lead to mutations, so laboratory workers can easily identify their presence.

By the way, a woman can take genetic tests solely at her own discretion. If there are certain health factors, then experts will strongly recommend undergoing such an analysis and, based on the results of the examinations, make sure that everything is in order. As a rule, couples come to a geneticist who suspect that their unborn child may be at risk of developing complications.

A woman must take into account that, just as during planning, a geneticist is also needed during pregnancy. After all, when a little life has already begun, it is not too late to take the necessary tests in order to know, if the results are not what you would like to get, what you will have to face after the birth of the baby.

When is genetic testing required?

Genetic analysis when planning pregnancy is especially necessary if:

  • a woman who has decided to give birth to a baby has already celebrated her 35th birthday, and the future dad is over 40 years old (here we assume that what older parents, the higher the risk of possible gene mutation will be);
  • if the potential mom and dad are immediate relatives;
  • if a woman is unable to conceive or carry a baby. Consulting a geneticist when planning a pregnancy will be very helpful, helping to understand the current situation. In order to understand everything, you need to take a blood test from both potential parents and examine their chromosome sets;
  • if the first child born to a couple has congenital pathologies.

If there is at least one of these options, analysis is simply necessary.

How are genetic studies carried out?

So, from this article it becomes clear that genetic research can and should be done. These include:

  1. Collecting anamnesis. The doctor is obliged to collect as accurately as possible all possible information not only about the health of women and men preparing to become parents, but also their immediate relatives. He will compile a kind of pedigree that will contain data in order to study this situation. The doctor will include problems with conception (if any) in this pedigree; data on abortions and miscarriages; about illnesses of relatives; results of the chromosome set of women and men; harmful factors that you might encounter in your ordinary life potential parents;
  2. Chromosomal analysis. Often future mom unable to provide geneticists with all the data on the health of relatives beyond several generations. That is why it is necessary to conduct a genetic study, because by taking blood and examining its chromosome set, you can draw the most accurate conclusions and identify possible problem. It is better, of course, that a chromosome analysis be carried out on both parents;
  3. Analysis of genetic incompatibility. One of the main reasons that miscarriage occurs is the genetic incompatibility of the spouses. And this happens if the human leukocyte antigen - HLA - in a husband largely coincides with such an antigen in his wife. When this combination occurs, then female body perceives the embryo as a kind of foreign body and rejects it with all his might. Therefore, when the question arises whether a geneticist is needed when planning a pregnancy, why do this, we must remember that important task at genetic research The compatibility of potential parents is to identify discrepancies in their chromosomes. Moreover, the more such inconsistencies there are, the greater the chance a woman has to carry and give birth to a healthy baby;
  4. DNA diagnostics of the presence of certain diseases. Deoxyribonucleic acid or DNA is a complex set of nucleotides that form chains, that is, genes. It is in them that the hereditary information is located, which is received from the parents and transmitted to the future baby. When an embryo is formed, very fast division cells. And here some failures can occur - gene mutations that determine a person’s individuality. Why do you need to know this? And then, such mutations can be both positive and negative. Therefore, it is necessary to do a blood test for genetics when planning a pregnancy, because it will show doctors how to treat the patient, taking into account all his predispositions.

Important information! Many diseases can be inherited and even across generations. Big role The age of conception also plays a role: the older you are married couple, the greater the risk of developing abnormalities in the fetus.

Genetic testing methods

So, we have already figured out that it is necessary to donate blood for genetic testing when planning a pregnancy. The examination itself includes several stages:

  • molecular genetic methods will make it possible to find hereditary diseases;
  • when testing blood for biochemistry, the composition of the blood of a woman and a man preparing to become parents will be studied;
  • A general urine test will determine whether inflammatory processes in organism;
  • a clinical blood test will form a general clinical picture of your health status;
  • when testing blood for biochemistry, the composition of the blood of a woman and a man will be studied;
  • When testing blood for sugar, diabetes can be excluded or confirmed;
  • a coagulogram will show whether there is a deviation in the composition of the blood, whether its coagulation is impaired;
  • when analyzing the karyotype, the chromosome set will be studied;
  • if the need arises, you should consult with relevant specialists;
  • If certain factors are discovered due to which parents are included in the risk group, then it will be necessary to undergo a hormonal test.

To date, the nature of genetic abnormalities has not yet been fully studied. Many of them can be predicted. Therefore, in order to exclude genetic pathologies and their spread, genetic tests are carried out.

Who needs genetic counseling when planning a pregnancy?

To be calm about the course of your future pregnancy, behind normal development fetus and the health of your unborn child, it is best to undergo a genetic test when planning a pregnancy, especially if:

  • a woman cannot conceive or bear a child. Consulting a geneticist and conducting the necessary tests when planning a pregnancy will help you understand the reasons for this situation. To do this, a blood test is taken from a man and a woman, and their chromosome sets are examined;
  • the woman who decided to give birth to a child is over 35 years old, and the father of the unborn child is over 40 years old (the older the parents, the higher the risk of developing gene mutations);
  • relatives have;
  • future parents are close relatives;
  • the first child has congenital pathologies.

Genetic analysis when planning pregnancy

When planning a pregnancy, a geneticist first gets acquainted with the family pedigree, finds out factors potentially dangerous for the unborn child associated with the diseases of his parents, the medications they take, living conditions, and professional characteristics.

Then, if necessary, the geneticist may order additional genetic testing before pregnancy. This may be a general clinical examination, including: blood tests for biochemistry, consultation with a neurologist, therapist, endocrinologist. Or special genetic tests may be carried out related to the study of the karyotype - the quality and quantity of chromosomes of a man and a woman when planning a pregnancy. In case of marriages between blood relatives, infertility or miscarriage, HLA typing is performed.

After analyzing the pedigree, assessing other factors, and test results, the geneticist determines the risk of hereditary diseases in the unborn child. A risk level of less than 10% indicates the likelihood of birth healthy child. The risk level is 10-20% - the birth of both a healthy and a sick child is possible. IN in this case Subsequently, it will be necessary to do a genetic analysis of the pregnant woman. High risk genetic abnormalities is a reason for a couple to abstain from pregnancy or use donor sperm or eggs. But even with high and medium risk levels, there is a chance that the baby will be born healthy.