Genetic analysis during pregnancy indications, research methods, interpretation of the results

1. Analysis of genetic compatibility, determining paternity, motherhood and other consanguinity;

2. Identification of a genetic predisposition to common diseases;

3. Identification of infectious pathogens;

4. The formation of a genetic identity passport.

A genetic compatibility test is also called a DNA test or paternity test. For its conduct, medical indications are not required, and an analysis of genetic compatibility is carried out privately, at the request of the parents. Often this type of research is used in cases of divorce, property division, and other litigation. You can establish the degree of kinship of a child before birth, during pregnancy.

Analysis for genetic diseases gives a 100% result and can reveal a child’s predisposition to the following potential health problems:

  • Myocardial infarction;
  • Arterial hypertension;
  • Thrombosis;
  • Osteoporosis;
  • Gastrointestinal tract diseases;
  • Bronchopulmonary pathology;
  • Diabetes;
  • Diseases of the thyroid gland.

Having done the genetic analysis during pregnancy in time, and, identifying violations, you can affect the successful bearing of the fetus and adjust the health of the unborn child.

Everyone knows that there are infections that cannot be detected using traditional forms of diagnosis, standardly used in the process of monitoring pregnancy. Genetic analysis methods allow you to quickly detect the DNA of infectious pathogens in the body, classify them, control their behavior and choose the right treatment. So, having made an analysis of genetic diseases, it is possible to identify such common pathologies as Down syndrome, Edwards, etc.

The expert geneticist’s conclusion forms the genetic passport of a person using genetic analysis methods. This is a peculiar form of combined DNA analysis, which contains data and its profile, the uniqueness of a person. These data can be of invaluable assistance to a person throughout his life, with all kinds of health problems.

The main methods of genetic analysis using ultrasound of the fetus and biochemical analysis of blood are completely safe and harmless methods, both for the mother and the baby. Ultrasound is carried out through the stomach of a pregnant woman, using a special apparatus. Much less often, transvaginal ultrasound is used (the device is inserted into the woman’s vagina). Biochemical analysis is carried out using the blood of patients whose sampling is made from a vein.

With invasive methods of genetic analysis, a woman is introduced into the body. So, during an amniocentesis, the uterus is pierced with a special needle and an amniotic fluid (amniotic fluid) is taken from it. At the same time, continuous monitoring is performed using ultrasound. Chorionic biopsy means a puncture in the abdomen of a woman to collect material containing cells necessary for the study (the base of the placenta).

Sometimes, for this analysis, the contents of the cervix are used. Placentocentesis is usually performed in the second trimester of pregnancy, under general anesthesia, since this procedure is considered a serious operation. Cordocentesis is a method of genetic analysis during pregnancy, not earlier than 18 weeks. Blood from the umbilical cord is taken by puncture through the uterine cavity of a woman. At the same time, they do anesthesia.

Home »DNA» What is a genetic blood test, how is it done and deciphering the results

A genetic blood test is a type of laboratory study that allows you to evaluate human chromosomes to identify pathological conditions. And also this study is used to establish the degree of relationship or for prevention.

Depending on the purpose of the study, the following types of genetic analysis are distinguished:

DNA analysis

A blood test DNA (deoxyribonucleic acid) is a study that allows you to identify a person in the process of studying a unique nucleotide sequence. This “genetic footprint” is individual for each person (with the exception of identical twins) and does not change throughout life.

Molecular genetic blood tests allow you to determine:

  1. Possible diseases. The study of biological material on DNA allows you to detect hereditary diseases in time. If a family has cases of a mental disorder or oncology, this test determines the predisposition to the development of a similar problem in the descendants.
  2. Individual intolerance to medicines. In cases where there is suspicion of hypersensitivity to a particular group of drugs, DNA analysis can be indicated.
  3. Relation degree. One of the most common reasons for conducting research is the need to establish family ties between people.
  4. Infertility factors. In reproductive centers, couples who have difficulty conceiving are prescribed a DNA test.
  5. Propensity to develop alcoholism or drug addiction. A similar predisposition can be established by identifying the genes responsible for the synthesis of enzymes for the breakdown of alcohol molecules and other compounds.


By karyotyping is understood the technique of cytogenetic analysis, thanks to which it is possible to study the chromosome set of a person. A similar examination is carried out among couples who want to have a baby.

A karyotype is a chromosome set of each person containing a complete description of the characteristics of all its components, their:

  • quantity;
  • form;
  • size etc.
  • The human genome contains 46 chromosomes, which, in turn, are divided into 23 pairs.
  • Autosomal (first 44) – designed to transmit hereditary traits: (hair, eye color, anatomical features).
  • The last chromosome pair is sex chromosomes, with the help of which it is possible to determine the karyotype:
  • women (23XX);
  • men (23XY).

The main tasks of karyotyping are:

  1. Determination of discrepancies in the chromosome set of spouses. The analysis is carried out to prevent the birth of children with malformations or other genetic pathologies.
  2. Identification of the number and affiliation of chromosomes, a characteristic of their structure.
  3. Establishment of the causes of infertility, manifested in a change in the multiplicity of chromosomes.

In addition to personal initiative, the doctor often recommends a genetic analysis due to certain factors.

Among the mandatory medical indications for the study, the following are distinguished:

  • living in ecologically unfavorable areas;
  • infertility for which no reason has been established;
  • age from 35 years (conducted even among couples where at least one spouse is older than 35 years old);
  • unsuccessful repeated attempts at artificial insemination;
  • pathology in the development of spermatogenesis without an established cause;
  • hormonal disorders in a woman;
  • the presence of genetic diseases in the family;
  • constant contact with chemicals;
  • marriages between close relatives;
  • recorded cases of spontaneous abortion, including premature birth and stillbirth.
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A timely DNA test shows the developmental defects of the baby before his birth, will help draw up a genetic map of the baby. Most often, in this case, the study is called a “genetic deuce”.


For analysis, it is necessary to carry out the sampling of biological material not only of the mother, but also of the fetus. Moreover, in the process of research, penetration through the abdominal cavity of a woman occurs. The invasive diagnostic method allows you to finally confirm the previously made diagnosis, but carries a certain threat to the baby.

Features of the analysis:

  1. A test can be done already in the first trimester of pregnancy, venous blood is taken for research.
  2. The analysis of the genetic deuce implies the study of specific protein structures (beta-hCG and PPAP-A), which are considered the main indicators of the presence of genetic pathologies.
  3. It is prescribed in combination with an ultrasound of the uterus and analysis for the karyotype of the parents. To study the karyotype, blood is taken from the baby’s umbilical cord.
  4. In conclusion, the doctor assesses the degree and risks of the development of hereditary pathologies in the child, prescribes treatment and records the data in the genetic map.

Non invasive

Non-invasive diagnostic techniques appeared in response to possible complications and risks during invasive genetic analysis. The most popular such method is Tranquility NIPT.

  1. To obtain a DNA result, it is necessary to examine the blood of the mother. Starting from the first month of pregnancy, circulation of fetal cells is activated in the mother’s body. Toward the end of the first trimester, their concentration reaches the limit, which is sufficient for determination in genetic analysis.
  2. The study is distinguished by a high confidence indicator. The accuracy of diagnosis of Down syndrome is more than 99,9%.
  3. The test does not pose a threat to the development of the fetus or the health of the mother.
  4. The study is conducted on 10-12 weeks of pregnancy.
  5. Results are prepared within 15 business days.

With timely diagnosis of pathologies and correctly selected treatment, many problems can be solved from birth.

  1. Blood is taken for analysis of genetic diseases. In full-term babies, the fence is made on the 4th day after birth, and in premature babies – on the 7th day.
  2. If a child is suspected of having a genetic pathology, the doctor prescribes a further examination. The type of diagnosis depends on the nature of the disease.
  3. Genetic analysis of newborns allows you to determine the presence of such pathologies in time as: cystic fibrosis, adrenogenital syndrome, phenylketonuria and others.
  4. For more information or for the diagnosis of other diseases, a DNA test is prescribed. Venous blood is used as biological material.

“Paternity Test”

The establishment of kinship is used not only in the medical field, but is also often necessary to resolve legal disputes. Since the parents pass on their genetic material to the child, matching sites are detected in the relatives with this analysis. A high percentage of matches means a greater likelihood of proving kinship.

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Genetic analysis during pregnancy

There are the following main directions in the implementation of laboratory tests based on a genetic analysis of blood:

  • analysis of genetic compatibility, which determines motherhood, fatherhood, as well as other consanguinity;
  • establishing a genetic predisposition to widespread diseases;
  • identification of pathogens;
  • establishment of a human genetic passport.

Traditional or non-invasive genetic analysis methods include:

Ultrasound of the fetus, as well as conducting genetic analysis during pregnancy, is done for a period of ten to fourteen weeks. Just at this time, it is possible to identify genetic diseases in children.

A blood test is carried out at an earlier date, allows you to determine the hereditary and chromosomal pathology, if he has one.

If there is suspicion, after a preliminary genetic analysis no later than the twenty-fourth week of the term, an ultrasound scan is repeated. This method makes it possible to identify small defects in the development of the baby. A genetic blood test during pregnancy is very important.

The main methods of genetic analysis of blood are harmless and safe for mother and baby. Ultrasound is carried out through the abdomen of a woman through a special apparatus. Transvaginal ultrasound is much less commonly used (in this case, the device is inserted into the vagina).

A biochemical analysis is performed using the patient’s blood. It is taken from a vein.

Invasive methods require introduction directly into the female body. For example, during amniocentesis, the uterus is punctured with a special needle, and amniotic fluid is taken from it. With the help of ultrasound, continuous monitoring is performed.

Chorionic biopsy refers to a puncture into the female abdominal cavity to collect material that contains the cells required for the study, that is, the base of the placenta. In some cases, uterine contents are used for this analysis.

Placentocentesis is most often performed in the second trimester under general anesthesia, since this procedure is considered serious.

Cordocentesis is a method of genetic analysis during pregnancy, not earlier than eighteen weeks. Through puncture, blood is taken from the umbilical cord through the uterine cavity. In this case, the woman is also anesthetized.

Genetic analysis during pregnancy must be carried out in the following cases:

  • At the age of women over 35 years old;
  • If there were hereditary (genetic) diseases in the family of mothers and fathers of the unborn child;
  • A previous child was born with congenital malformations;
  • When during the period of conception and pregnancy, a woman was affected by harmful factors (x-rays, radiation, drugs, alcohol, taking certain medications);
  • If during pregnancy the expectant mother had an acute viral infection (acute respiratory viral infection, influenza, toxoplasmosis, rubella);
  • If in the past a woman has had miscarriages or stillborn babies;
  • All pregnant women at risk, based on ultrasound and biochemical blood tests.
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A gynecologist who monitors pregnancy will definitely appoint a woman an analysis of genetic compatibility and an analysis of genetic diseases, if she belongs to the so-called risk group. This is an age older than 35 years, when the risk of mutations and malformations of the fetus increases sharply. To avoid the unpleasant consequences of late pregnancy and other risk factors listed above, a woman needs to be tested for genetic compatibility and a genetic disease test.

Doctors recommend
perform a genetic analysis for women in such cases

  • If in the family of one of the parents
    the unborn baby had genetic diseases or diseases transmitted by
  • · The future mother is 35 years old or older;
  • If a woman is pregnant
    suffered diseases such as acute viral infection: toxoplasmosis,
    flu, SARS, or rubella;
  • · When already with an existing baby
    congenital malformations are observed;
  • If during the period of conception and the entire pregnancy process
    the expectant mother was under the influence of adverse factors (radiation, alcohol,
    X-ray, drugs) or took certain types of drugs;
  • · When in previous times a woman
    the pregnancy was miscarried or the babies were stillborn;
  • · If based on a biochemical study
    blood or ultrasound data expectant mothers are at risk.

To avoid adverse various risk factors indicated
above, the expectant mother should perform a genetic determination test
compatibility, as well as undergo research on diseases of a genetic level.

Non-invasive or traditional methods of this diagnosis

  1. Pregnancy Ultrasound Used as a Method
    genetic analysis, performed at 10-14 weeks of gestation. The
    the period is most favorable for establishing a possible pathology in
  2. A biochemical blood test helps
    determining a possible chromosomal and hereditary pathology, perform it with
    pregnancy at an earlier date. If during pregnancy after already
    the genetic analysis performed there are various kinds of suspicions that they do
    another ultrasound for a period of 20-24 weeks. This research method contributes to
    the identification of small defects that manifest
    in the development of the baby.

In the case when
suspicions are confirmed, then the expectant mother is assigned to perform invasive
research methods, such as:

  • amniocentesis,
    this diagnosis contributes to the study of fetal waters, for this
    With a special needle, a puncture is made in the uterus, and a fence is made from it
    amniotic fluid, this process is carried out with constant monitoring
  • placentcentesis
    Is a procedure that helps to identify the consequences of
    transferred infections that appear during pregnancy are usually performed
    she is using general anesthesia from 13 to 27 weeks of pregnancy;
  • biopsy
    chorion – the diagnosis of cells, which are the basis
    the formation of the placenta, that is, for the collection of material in which
    cells required for the study, for this, a puncture is performed, performing it
    through the abdominal cavity of the mother, sometimes the contents of the cervix are used to
    conducting this study;
  • cordocentesis
    – diagnosis of cord blood, perform it for 18 weeks
    pregnancy, for this, a puncture is made through the uterine cavity and carried out
    blood sampling from the umbilical cord, while the patient is anesthetized.

In modern medicine, performing
genetic compatibility research and analysis for diseases transmitted by
inheritance, helps to identify more than 400 types of various types of pathologies
out of 5000 available.

Invasive methods

When confirming suspicions, a woman requires the appointment of invasive methods of hereditary analysis:

  • Chorionic biopsy, that is, the study of cells that act as the basis for the formation of the placenta;
  • amniocentesis (study of amniotic fluid);
  • placententesis, that is, a procedure that identifies the consequences of a woman who has suffered an infection during pregnancy;
  • cordocentesis – the study of cord blood.

If a timely analysis is carried out for genetic compatibility, as well as an analysis for hereditary diseases, then you can detect and establish about four hundred pathological varieties out of a possible five thousand.

2. Biochemical blood test.

Ultrasound of the fetus, as a method of genetic analysis during pregnancy, is carried out for a period of 10-14 weeks. It is at this time that you can identify pathology in the baby. A blood test (biochemistry) begins to be done at an earlier stage of pregnancy, it helps to identify chromosomal and hereditary (genetic) pathology, if any.

If the suspicions are confirmed, the woman is prescribed invasive methods of genetic analysis:

  • Amniocentesis (amniotic fluid test);
  • Chorionic biopsy (examination of cells that are the basis for the formation of the placenta);
  • Placentocentesis (a procedure for identifying the consequences after an infection during pregnancy);
  • Cordocentesis (cord blood test).

Timely analysis of genetic compatibility and analysis of genetic diseases makes it possible to identify about 400 types of pathologies out of 5000 possible.

Child predisposition

Thanks to the analysis of hereditary diseases, you can get a XNUMX% result and establish the child’s predisposition to such potential diseases and conditions:

  • myocardial infarction;
  • thromboses;
  • arterial hypertension;
  • gastrointestinal tract diseases;
  • osteoporosis;
  • Thyroid gland diseases;
  • diabetes;
  • bronchopulmonary pathological processes.

If you conduct the study on time and detect genetic diseases in children during pregnancy, you can safely convey the fetus and adjust its health. Using the methods of traditional diagnostics, it is possible to quickly find the DNA of infectious agents in the body, make their classification and control their behavior, and choose the correct therapeutic course.

What pathologies can be detected?

Having performed, for example, an analysis of heredity and variability, one can find such widespread pathological processes as Edwards syndrome, Down syndrome, etc. A genetic passport of a person is formed from a conclusion made by an expert geneticist through the use of genetic analysis techniques.

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Svetlana Borszavich

General practitioner, cardiologist, with active work in therapy, gastroenterology, cardiology, rheumatology, immunology with allergology.
Fluent in general clinical methods for the diagnosis and treatment of heart disease, as well as electrocardiography, echocardiography, monitoring of cholera on an ECG and daily monitoring of blood pressure.
The treatment complex developed by the author significantly helps with cerebrovascular injuries and metabolic disorders in the brain and vascular diseases: hypertension and complications caused by diabetes.
The author is a member of the European Society of Therapists, a regular participant in scientific conferences and congresses in the field of cardiology and general medicine. She has repeatedly participated in a research program at a private university in Japan in the field of reconstructive medicine.