Hospitals 

Genetic tests in planning pregnancy: description, features and recommendations. Genetic tests before pregnancy: what is it and why to take it

Planning a pregnancy involves going through a series of medical examinations to assess a couple's fertility. Genetic counseling and analyzes for genetics during planning, in turn, are designed to minimize the likelihood of having a child with any hereditary pathologies.

Few people know that most of the embryos with abnormalities and various genetic defects die at the earliest stages of pregnancy due to such a mechanism as natural selection. If not for this, then much more sick children would be born. Therefore, sometimes such painful situations for all planning women happen, such as a miscarriage or a frozen pregnancy.

Medical genetic counseling is not a mandatory examination, but at the same time it is a very desirable step towards the birth of a healthy child. Currently, most often, spouses who have encountered a habitual or are sent to a geneticist for examination. However, such a specialist should be visited with a number of other indications:

  • The previous pregnancy ended in the birth of a still or seriously ill child with genetic defects, a child with a deviation in physical or mental development.
  • Genetic hereditary diseases among relatives.
  • Consanguinity of spouses.
  • The age of women is up to 18 and after 35 years, and men are over 40, when the likelihood of gene mutations in germ cells is slightly higher, and the mechanism of natural selection is weaker.
  • The spouses have minor physical developmental disabilities.
  • One of the spouses is working in harmful conditions.
  • In the anamnesis there are pregnancies that were interrupted in the early stages - spontaneous miscarriages, anembryonia, frozen pregnancy.

Heredity and genetics

Even at school, everyone learns that a person has 46 chromosomes in every cell of the body, which are made up of genes and carry genetic information. Sex cells (sperm and eggs) contain only half of the set - 23 chromosomes, so that as a result of the fusion of two such cells, the new organism receives a complete chromosome set - half from the father and half from the mother. For the emergence of any genetic disease in a new organism, one cell with an abnormal set of chromosomes may be enough. Moreover, violations of the chromosome set in germ cells can also form in people who do not have any deviations in the structure of chromosomes in all other cells of the body, as a result of the harmful effects of alcohol, cigarettes, viruses, drugs during the maturation of sperm and eggs. That is why planning couples are advised to refrain from all this for at least three months before the planned date of conception.

How is a consultation with a geneticist going?

Genetic screening takes place in several stages.

First, the doctor needs to collect anamnestic data for both spouses. He will ask about all relatives and their possible congenital diseases, draw up a genealogical chart or pedigree. The genealogical method allows you to establish the type of inheritance of the disease, if it exists in the genus, and to determine the possible risks of this pathology in future children according to genetic patterns. That is why one should not hide from a geneticist any data about his relatives that he may need to build such a scheme. This can be not only information about cases of genetic pathology, but also other necessary facts regarding the birth, life or death of relatives to compile a complete picture.

Secondly, further for a complete examination, cytogenetic and molecular biological analyzes, such as karyotyping of spouses, allowing to examine the chromosomes of both partners, or HLA-typing, if the doctor suspects that there is genetic incompatibility spouses.

And, thirdly, at the end of the consultation, a geneticist with full responsibility and objectivity gives a written opinion on the possible risks, which is made on the basis of all preliminary theoretical calculations and laboratory studies. Also, in the conclusion, the doctor is obliged to formulate recommendations for the further planning of the child.

It happens that the risk of having a child with a serious genetic pathology in one particular family is so high that recommendations can even be given on the use of donor eggs or sperm. In the end, the final decision always rests with the spouses. Even if the couple does not have any genetic problems, which happens most often, then you should not count Geneticist's appointment wasted time, because, in fact, such a consultation is necessary precisely to exclude the likelihood of any pathologies occurring.

Modern families approach the planning of procreation as seriously as possible. Preparing to acquire the most important and responsible status in life - a parent - requires the most scrupulous approach. Of course, we are talking about the health of expectant mothers and fathers. A comprehensive medical examination, which necessarily includes genetic tests, will help to understand this issue.

When planning a pregnancy, not only women are sent for their delivery, whom in the recent past doctors, whispering, called "old-born". Today, scientists in the field of genetic engineering have come to the conclusion that women over the age of 25 should also undergo such diagnostics.

Basic genetic tests for pregnant women

During gestation, it is extremely important to keep the placental lactogen under control. when planning pregnancy, it will be able to determine its level - it is on it that the likelihood of spontaneous miscarriage, the further development of pregnancy, as well as its negative course in the form of fetal malnutrition or complete fading depend.

The definition of chorionic gonadotropin is also important. The level of this hormone allows you to determine pregnancy as early as possible. Such a genetic analysis when planning pregnancy (its price is not so high as to risk their own health and the life of the future baby) is carried out in blood serum.

The results of the study will help the obstetrician-gynecologist find out the degree of threat of termination of the expected pregnancy and the likelihood of complications in the uterus.

The role of geneticists in planning pregnancy

Genetic analyzes when planning pregnancy include other studies that allow to adequately assess the risks of various pathologies that may arise from the moment of conception and embryo formation. The cost of such studies is sometimes the only obstacle to their passage, but the benefits that they carry in themselves are almost impossible to overestimate.

The question of the usefulness of the future baby worries not only the mother, who is carrying him for 9 months under her heart. With hereditary diseases and intrauterine developmental anomalies, an average of every 20th child is born. To our great regret, not a single married couple will be able to insure their future descendant against the acquisition of any vices. It is a priori impossible to prevent this or that deviation at the level of DNA cells. In addition, a problem is also the fact that a genetic blood test during pregnancy planning, having shown acceptable results, sometimes does not guarantee a positive development of events: the likelihood of new mutations in the reproductive cells of the parental cells, including the risk of transition of normal genes into pathological , always remains.

Who should get genetic testing first?

The advantages of timely medical genetic counseling are assistance in planning pregnancy and preventing the birth of a baby with incurable pathologies.

Not many young families dreaming of becoming parents in the near future know what genetic tests they will have to undergo when planning pregnancy. In addition, certain groups of people need to be examined long before pregnancy without fail. These categories include men and women at risk of genetics, namely:

  • married couples where at least one of the spouses has a history of serious diseases in the family;
  • one of the spouses, in the history of the family tree of which there were cases of incest;
  • women who had miscarriages, gave birth to dead babies or are diagnosed with infertility without a specific medical diagnosis;
  • parents who have been in contact with radiation, harmful chemicals;
  • women and men who have consumed alcohol or teratogenic drugs during conception, which can potentially cause fetal malformations.

At what age do you need to be tested for chromosomal abnormalities?

How much does a genetic analysis cost when planning pregnancy is known both to women under 18, those over the age of 35, and men who have crossed the 40-year threshold. As already mentioned, the risk of mutations in individual genes and DNA cells increases in arithmetic progression with each passing year.

Ideally, all couples should pass genetic tests when planning pregnancy.

Today, the multiplicity of hereditary ailments transmitted from generation to generation is the main reason for the need to undergo research for all young couples, without exception. In addition, modern genetics without stopping every year continue to discover more and more new diseases.

Genetic testing is an important step in planning a pregnancy

Naturally, it is impossible to foresee all genes that have the potential for mutation in the body of future parents. Not a single genetic analysis when planning a pregnancy can give one hundred percent guarantee that a particular married couple will have an absolutely healthy baby without hereditary abnormalities. Meanwhile, it is vital to clarify the degree of risk for theoretical and actual preparation for pregnancy.

So, potential parents turned to the medical genetic center for help. How will the specialists conduct the examination, and what genetic tests will they need to pass on a mandatory basis when planning a pregnancy? The curiosity of many will help satisfy the following.

Important points for geneticists

The first stage of the examination is medical and genetic counseling by a specialist, during which the doctor carefully and in detail examines the features of the pedigree in the family of each potential parent. The factors of increased risk for the unborn child deserve special attention of medical geneticists. They represent:

  • genetic and chronic diseases of mom and dad;
  • medicines used by prospective parents;
  • conditions and quality of life, living conditions;
  • features of professional activity;
  • environmental and climatic aspects, etc.

Oddly enough, but a significant role for geneticists are the answers to ordinary, familiar to everyone, blood and urine tests, the conclusions of some narrow-profile specialists (endocrinologist, neuropathologist, etc.). Often, experts prescribe a karyotype diagnosis to married couples. Determining the number and quality of chromosomes in expectant mothers and fathers is extremely important in the case of incestuous marriages, miscarriage of several pregnancies, diagnosed but unexplained infertility.

How much does a genetic test cost?

The cost of genetic analysis for planning pregnancy, called "HLA-Typing", in various Moscow medical genetic centers ranges from 5,000 to 9,000 rubles, depending on the breadth of the spectrum of the study of predisposition to pathologies.

The completed study will help the geneticist to draw objective conclusions about the likelihood of exposure to negative factors. Genetic tests when planning pregnancy will make it possible to draw up an individual, relatively accurate forecast about the health of the future baby. It is a study of this type that will help to say about the estimated risk of a child developing specific hereditary ailments. The doctor will be able to give useful recommendations that should become the basis for a couple who dream of becoming the parents of a full-fledged healthy toddler.

Risks of giving birth to genetically ill children

In addition, each analysis is endowed with a value that determines the risk in the presence of a particular predisposition. Genetic diseases planning pregnancy, or rather the likelihood of their occurrence in the future crumbs, are measured as a percentage:

  1. With a low risk (up to 10%), parents have nothing to worry about. All analyzes indicate that this married couple will have a healthy child in all respects.
  2. With an average indicator (from 10 to 20%), the risk increases, and the possibility of having a sick baby is practically equated to the probability of a full-fledged child. Such a pregnancy will be accompanied by careful prenatal monitoring of the carrying woman: regular ultrasound, chorionic biopsy.
  3. With high risks (from 20%), doctors will recommend that a married couple refrain from conceiving and prevent pregnancy. The likelihood that a baby will be born with a genetic disease is much higher than the chances of having a healthy baby. As an alternative solution in this situation, specialists can offer the couple to use or sperm in accordance with the IVF program.

Research early in pregnancy

Parents should not despair in any case. The chances of having an absolutely healthy baby remain even at high risk. To understand what genetic analysis gives when planning pregnancy, you should pay attention to laboratory diagnostic measures for malformations at the initial stages.

Almost from the moment of the onset of the long-awaited pregnancy for many parents, you can find out if everything is in order with the fetus? You can find out if your baby has any hereditary genetic diseases in utero.

Methods for genetic diagnosis of pregnant women

Doctors are capable of using many techniques and techniques for objective diagnosis of a pregnant woman and a fetus. Indeed, the presence of defects and developmental anomalies can be judged long before the baby is born. With each year of the progression of ultrasound and laboratory technology, the chances of accuracy increase. In addition, in the past few years, doctors have given priority to diagnostic methods such as screening. It is a "large-scale" electoral survey. Screening is mandatory for all pregnant women.

Everyone needs to take genetic tests!

Why is it necessary to undergo genetic tests even for those who do not fall into risk groups? The answer to this question is due to disappointing statistics. For example, only half of children born with Down syndrome to mothers over the age of 35. Among the remaining half of women in labor, there are many young women who have not even reached the age of 25. In women who became mothers of children with chromosomal abnormalities, only 3% had an entry in the exchange card about the birth of previous babies with similar diseases. That is, there is no doubt that genetic diseases are not a consequence of the age of the parents.

Avoid undergoing tests to identify chromosomal abnormalities in the fetus or a predisposition to the occurrence of genetic abnormalities in the future, a not yet conceived baby should not be. To determine the presence of any diseases at an early stage of their development means to get ahead of the pathology. Given the possibilities of modern medicine, not to take such a step towards the long-awaited baby would be unfair and irresponsible in relation to him.

In some cases, a woman learns about abnormalities in the development of the fetus in the process of carrying it. Doctors diagnoses become a surprise, especially if the next of kin of the pregnant woman has never had autoimmune or other serious diseases.

To exclude such medical conclusions, experts recommend passing special genetic tests.

    Geneticist consultation

    Genetics tests are a special examination procedure, thanks to which you can identify negative factors in advance in the health of the expectant mother, which can affect the development of the fetus. Science knows the types of genes that lead to mutations, so it is not difficult for laboratory workers to identify them.

    REFERENCE! A woman can take genetic tests of her own free will. If you have certain health factors, experts may strongly recommend getting tested.

    For an appointment with a geneticist, couples are usually sent who have suspicions of risk of developing abnormalities the unborn child.

    The task of the doctor is to collect as much information as possible not only about the health of potential parents, but also about their immediate relatives. The specialist draws up a kind of pedigree, where important data necessary for studying are entered specific situation.

    The following data is entered into the pedigree:

    • information on miscarriages and abortions;
    • available problems with conception(if any);
    • data on the diseases of relatives;
    • the presence of harmful factors that future parents have to face in everyday life;
    • research results chromosome set future parents.

    ON A NOTE! In most cases, the expectant mother cannot provide genetics with information about the health of relatives beyond several generations. The doctor, on the basis of a study of her chromosome set, is able to draw the most accurate conclusions and identify possible problems.

    What does a geneticist check?

    Genetic testing includes several options for procedures. Examinations are necessary to draw up the most detailed clinical picture of the health status of future parents. Even if it is not known that there were cases in the family autoimmune abnormalities, on the basis of analyzes, the doctor can assume this fact.


     Genetic testing consists of the following steps:

    • molecular genetic methods(studies can identify hereditary diseases);
    • clinical blood test (allows you to draw up a general clinical picture of the state of health);
    • a blood test for biochemistry (blood test is a laboratory study of the blood composition of both potential parents);
    • consultation with specialized specialists (if necessary);
    • coagulogram(detects abnormalities in the composition of the blood, disorders of its coagulability);
    • general urine analysis (shows the development of inflammatory processes in the body);
    • blood sugar test (excludes or confirms diabetes mellitus);
    • background studies (assigned if there are factors that include parents at risk);
    • karyotype analysis(the procedure allows you to study the chromosome set).

    If a woman already has a child with abnormal development, then when planning conception, she is assigned additional procedures. For example, if a baby has Down syndrome, then the cause of this disease is found out to determine the degree of risk of its occurrence during repeated pregnancy. In some cases, the disease is not inherited, and the second child can be born completely healthy.

    REFERENCE! Genetic tests are different when planning a pregnancy and in the early stages of pregnancy. These two procedures should not be confused.

    How to get tested?

    In order to pass genetic tests, first of all, you need turn to genetics. These specialists, as a rule, carry out an appointment in special centers or private clinics.

    In some cities, medical genetic consultations are open, providing services to the population is free. They are financed by the state. A visit to genetics is recommended for both potential parents.

    Preparatory actions before visiting a geneticist and the scheme for taking tests:

    • it is necessary to ask all relatives about serious illnesses;
    • for an appointment with a doctor, you must take with you cards from the clinic and the results of all available tests;
    • karyotype study(the biological material for analysis becomes blood from a vein in both potential parents);
    • passage of additional procedures (the list may differ depending on individual factors).

    IMPORTANT! A child with chromosomal abnormalities can be born even to absolutely healthy parents. Analyzes allow you to identify a latent threat that may appear after several generations.

    When is analysis required?

    The main factors that make genetic analysis a mandatory procedure are the established diagnoses of developmental abnormalities in relatives and the age of the expectant mother. Genetic analysis is necessary if the following factors are present:


    If, after consultation with a geneticist or based on test results, risk factors for the future fetus, then experts prescribe a course of treatment for existing abnormalities.

    IMPORTANT! Many diseases can be transmitted not only by inheritance, but also through generations. The age of conception plays an important role - the older the married couple, the greater the risk of developing abnormalities in the fetus.

    In the absence of a favorable trend, the couple is offered alternative methods of conception. Analyzes should be treated with a high degree of responsibility. The health of her unborn child depends on the correct actions of a woman.

To date, the nature of genetic abnormalities has not yet been fully understood. Many of them are foreseeable. Therefore, in order to exclude genetic pathologies and their spread, genetic analyzes are carried out.

Who needs a geneticist consultation when planning a pregnancy?

In order to be calm about the course of your future pregnancy, for the normal development of the fetus and the health of your unborn child, it is best to undergo a genetic analysis even when planning a pregnancy, especially if:

  • a woman cannot conceive or bear a child. A consultation with a geneticist and carrying out the necessary tests when planning a pregnancy will help to understand the reasons for this situation. For this, a blood test is taken from a man and a woman, and their chromosome sets are examined;
  • a woman who decides to have a child is more than 35 years old, and the father of an unborn child is more than 40 years old (the older the parents, the higher the risk of developing gene mutations);
  • have relatives;
  • future parents are close relatives;
  • the first child has congenital abnormalities.

Analysis for genetics when planning pregnancy

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

Then, if necessary, the geneticist can order an additional analysis for genetics before pregnancy. This can be a general clinical examination, including: blood tests for biochemistry, consultation with a neuropathologist, therapist, endocrinologist. Or, special analyzes for genetics can be carried out, associated with the study of the karyotype - the quality and number of chromosomes of a man and a woman when planning a pregnancy. In the case of marriages between blood relatives, infertility or miscarriage, HLA typing is performed.

After analyzing the pedigree, evaluating other factors, and the 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 having a healthy baby. The risk level is 10-20% - the birth of both a healthy and a sick child is possible. In this case, subsequently, it will be necessary to do an analysis for genetics already in a pregnant woman. The high risk of genetic abnormalities is the reason for the couple to abstain from pregnancy or to use donor sperm or eggs. But even with high and medium risk levels, there is a chance that the baby will be born healthy.

A couple planning to conceive a child can significantly reduce the risk of having a baby with pathologies. To do this, you need to undergo a full medical examination in advance, even before pregnancy, in order to identify the presence of health problems in each of the future parents. Sometimes it doesn’t do with taking tests and visiting specialists from the standard list. An analysis for genetics when planning a pregnancy is rarely prescribed, but if the gynecologist thinks that it is necessary, it must be passed!

Read in this article

Who is at risk

A child with a genetic pathology can appear even in perfectly healthy parents. However, if mom or dad have a predisposition to conceiving such a baby, it can be identified with almost one hundred percent probability using a set of genetic tests.

A list of signs on the basis of which the future parents are determined to be at risk:

  • mom, dad or any of their close relatives were previously diagnosed with genetic diseases, for example, schizophrenia, Alzheimer's disease, Down syndrome and others;
  • in previously born children (not necessarily common), genetic abnormalities were identified;
  • the couple's attempts to conceive a child for more than a year remain unsuccessful;
  • in the history of the mother there are already cases, or the birth of a dead baby;
  • the age of the expectant mother is less than 18 or more than 35 years old, and the daddy is more than 40 years old;
  • the spouses themselves are blood relatives;
  • the work of one or both spouses involves contact with harmful substances that can affect the genetic characteristics of a person;
  • a woman has to take medications that can damage the fetus or significantly affect its development.

If there is even a suspicion that one of these threatening factors is present in the life of a couple planning to conceive, it is imperative for genetics.

Analysis of genetic incompatibility

It is especially important to undergo this genetic study for those couples who have been unsuccessfully trying to conceive a child for a long time, as well as for women with a disappointing diagnosis of infertility.

This analysis involves the study of the HLA (human leukocyte antigen) of each of the spouses. The fact is that with their strong similarity, carrying a pregnancy becomes simply impossible. The woman's body simply does not produce special antibodies designed to protect the placenta and fetus, which in this case are perceived as something foreign and rejected.

For research, blood will also be taken from the spouses from a vein, but the degree of similarity of their chromosomes is already being studied. The more they differ, the more likely it is that a woman will be able to conceive and bear a healthy baby. Total genetic incompatibility is rarely diagnosed. The result can be found out in a couple of weeks.

DNA diagnostics of the presence of certain diseases

A woman or a man may have previously had children with diseases such as phenylketonuria or mucovicidosis. In this case, DNA tests that identify the risk of similar disorders in the next child are also included in the list of genetic tests when planning pregnancy.

Interpretation of results

With a full examination for genetics, it is possible to predict in advance whether the unborn child will have more than 60 types of monogenic genetic abnormalities, as well as 4 multifactorial pathologies. Tests allow you to find out if any of the spouses is a carrier of mutant genes, which often become the reason for the birth of a sick baby.

With the help of genetic tests, it is also possible to identify the risk of complications during gestation, which makes it possible to start their prevention in time.

The doctor measures the degree of risk as a percentage. The high probability of having a child with genetic disorders is indicated by an indicator of more than 20%. If it is less than 10%, then, most likely, there will be no problems with genetics. The average risk range is between 10 and 20%. If the risks are assessed as very high, then the specialist may advise the spouses to refrain from conceiving a child or recommend one of the donor IVF programs. With an average probability, a woman will have to undergo repeated tests during pregnancy.

Whatever the results of the genetic test, they are not the final judgment. However, a timely analysis often helps not only to learn about the risks of having a sick child, but also to do everything possible to reduce them.