In the generally accepted understanding, a family is loving parents and happy children, so it is very important to create excellent conditions for the birth and upbringing of children.
2. Main reasons for carrying out the analysis3. Indications
4. What the analysis reveals
5. How to take it? Preparing for analysis
6. What to do if deviations are detected?
Due to various circumstances, many modern young people have problems conceiving children, most often this is due to genetic incompatibility. Thanks to modern technologies and unique equipment today can carry out special analysis, which will reveal the percentage of parental compatibility, as well as possible genetic deviations.
This procedure called karyotyping, once in your life you donate the necessary genetic material, and with the help of special manipulations the chromosome set of the married couple is established.
Using the results of this analysis, you can easily determine the likelihood of children being born to spouses, as well as identify the possibility of a child acquiring hereditary genetic diseases. To date, this method The study has an almost one hundred percent result, which largely makes it possible to simultaneously identify several reasons for a woman’s lack of pregnancy. Such procedures are absolutely painless, but require special preparation under certain circumstances. The desire to have healthy offspring is inherent in every married couple, which is why hundreds of thousands of people undergo karyotyping every year.
Main reasons for conducting analysis
Karyotyping is a fairly well-known procedure in Western and European countries, however in Russia this analysis It has not been held for very long, although the number of applicants increases every year.
The main objective of this analysis is to identify compatibility between parents, which will allow them to conceive and give birth to offspring without pathologies and various kinds deviations.
As a rule, such an analysis is carried out in the first stages, although it is possible to carry out the procedure on a pregnant woman. In such a situation, the necessary material is taken from the fetus to determine the quality of the chromosome set. Of course, karyotyping is not a mandatory procedure for young parents, although it will help identify a lot of abnormalities in an unborn baby.
During the analysis, it is possible to determine the predisposition of the future baby to diabetes mellitus and hypertension, heart attacks and various pathologies of the heart and joints. During the collection of tests, a defective pair of chromosomes is detected, which allows us to calculate the risk of having a defective baby.
Indications
There are certain categories of citizens who simply need to undergo a similar procedure, today this number includes:
- Parents over 35 years of age, even if this rule applies only to one of the spouses.
- Infertility, the causes of which have not previously been identified.
- Unsuccessful options for in vitro fertilization.
- Hereditary diseases in parents.
- Problems with hormonal balance among the fair sex.
- Unidentified causes of impaired ejaculation and qualitative sperm activity.
- Bad environment and working with chemicals.
- Absence healthy image life, smoking, drugs, alcohol, medication use.
- Previously recorded termination of pregnancy, miscarriages, premature births.
- Marriages with close blood relatives, as well as previously born children with genetic disorders.
What does the analysis reveal?
The procedure uses a unique blood sampling technology, which allows you to separate blood cells and isolate the genetic chain. A geneticist can easily find out the risk percentage of trisomy (Down syndrome), the absence of one chromosome in the chain (monosomy), the loss of a genetic section (deletion, which is a sign of male infertility), as well as duplication, inversion and other genetic abnormalities.
In addition to determining these deviations, it is possible to establish various types of anomalies that can lead to serious deviations in the process of fetal development, causing gene mutation, responsible for the formation of blood clots and detoxification. Timely detection of these deviations will allow creating normal conditions for fetal development and prevent miscarriages and premature births.
How to submit? Preparing for analysis
This analysis is carried out in laboratory conditions and is absolutely safe for men and women; if a woman is pregnant, the analysis is also carried out on the existing fetus. Blood cells are taken from the parents and various manipulations the chromosome set is isolated, then the quality of the existing chromosomes and the number of gene deformations are determined.
If you have made a decision and are ready to undergo the karyotyping procedure, you must stop using tobacco products, alcohol and medical supplies. In case of exacerbation of chronic and viral diseases it is necessary to postpone the blood sampling procedure for more late period. The entire procedure is carried out over five days; lymphocytes are isolated from the biological fluid during the division period. Conducted within 72 hours full analysis cell proliferation, which allows us to draw conclusions about pathologies and risks of miscarriage.
Thanks to unique technologies, only 15 lymphocytes are required to obtain accurate results and various drugs, which means that you will not have to donate blood and other biological fluids. For one married couple, it is enough to conduct just one test, with the help of which you can plan pregnancy and the birth of healthy babies.
Situations arise when pregnancy has already occurred, and necessary tests to identify abnormalities were not carried out, so genetic material is collected from the fetus and both parents.
It is best to carry out the analysis in the first trimester of pregnancy; at this stage of fetal development, diseases such as Down Syndrome, Turner Syndrome and Edwards Syndrome, as well as other complex pathologies, can be easily identified. In order not to harm the unborn baby, tests are carried out as follows:
- Invasive method
- Non-invasive method
A non-invasive method is considered a safe way to obtain results, which involves performing an ultrasound, as well as taking blood from the mother to determine various markers.
The most accurate results can be obtained by performing an invasive test, but it is quite risky. Special equipment is used to perform manipulations in the uterus, which allow obtaining the necessary genetic material.
All procedures are painless for the woman and the fetus, however, after undergoing the test using an invasive method, inpatient observation is required for several hours. This procedure can cause a threat of miscarriage or a frozen pregnancy, so doctors talk in detail about all the consequences and possible complications.
What to do if deviations are detected?
After receiving the results, the geneticist prescribes a test, during which he talks in detail about the likelihood of having a defective child. If the compatibility of the parents is impeccable and the chromosome set has no abnormalities, young parents are told all the stages of planning a pregnancy.
If various abnormalities are detected, the doctor prescribes a course of treatment with which you can avoid some troubles when planning a pregnancy. However, if abnormalities are identified during pregnancy, parents are advised to eliminate the pregnancy or are given the right to choose.
In this situation, you can easily take a risk and give birth to a full-fledged healthy child, but the doctor is obliged to warn about all possible deviations and their consequences. At the stage of planning a baby, you can use donor genetic material. Geneticist and gynecologist do not have legal grounds to be forced to remove the pregnancy, so the choice always remains with the parents.
Children are the most important thing a person can have; you should be extremely careful in the planning and conception process. Fortunately, using the karyotyping procedure, you can avoid troubles during fetal development.
Karyotype analysis at VitroClinic – high accuracy and efficiency.
Great value in comprehensive examination reproductive system Determination of the karyotype plays a role for spouses.
A karyotype is the set of chromosomes (their number, shape, size, etc.) that is characteristic of a given biological species. Each type of organism has a certain number of chromosomes. The human karyotype consists of 46 chromosomes. Of these, 44 are autosomes (22 pairs), having the same structure in both the female and male body, and one pair of sex chromosomes (XY in men and XX in women).
To determine it, it is necessary to conduct a molecular study, as a result of which the geneticist receives detailed information about the genetic characteristics of a married couple and, on its basis, offers certain solutions to the problem.
It is worth carrying out a study on the karyotype of chromosomes in specialized reproduction centers, which will allow, if necessary, additional tests, receive qualified advice and opinions from specialists in various fields.
At the VitroClinic center for reproductive technologies, you can take a test that will reveal the karyotype of each spouse during a comprehensive examination. Modern laboratory Our clinic is equipped with high-tech equipment that allows us to conduct high-quality tests. Attentive and qualified clinic staff will perform the procedure for collecting blood and other material professionally, quickly and safely. Biological material will immediately go into operation, which is extremely necessary when performing this analysis.
What will a karyotype analysis show?
A healthy person can be a carrier of chromosomal rearrangements, without visible signs of their presence. Chromosomal rearrangements can lead to problems with miscarriage, female and male infertility, and congenital malformations of the fetus.
First of all, with the help karyotype analysis pathologies are determined in the chromosome set of spouses, such as trisomy (increase in the number of chromosomes by one), monosomy (loss of a pair of chromosomes), deletion (absence of chromosome fragments), translocation (exchange of fragments of different chromosomes), mosaicism, etc. Each such change helps identify the causes of infertility and persistent miscarriage, as well as diagnose the likelihood of developing various defects in future offspring. Based on these data, the experienced geneticists of the VitroClinic center will develop effective programs to solve the reproductive problem of a married couple.
The fetal karyotype is already early stages pregnancy will accurately indicate genetic changes that cause certain diseases: Down syndrome, Klinefelter syndrome, Edwards syndrome, Patau syndrome, Shereshevsky-Turner syndrome, Prader-Willi syndrome, authenticism and other serious developmental defects. During pregnancy, specialists from our center for reproductive technologies, if necessary, conduct this analysis and suggest further ways to solve the problem when identifying genetic pathologies in the embryo.
Indications for karyotype analysis
For full gestation and birth healthy child The karyotyping procedure is necessary for every couple planning a pregnancy. Unfortunately, some spouses who need a karyotype examination are stopped by the price of this analysis. At the same time, in reproduction centers such as our clinic, a complex blood test for karyotype is offered, which significantly reduces its cost and avoids many problems with pregnancy and the health of the unborn child.
With age, the likelihood of chromosomal changes increases, therefore, first of all, a karyotype is recommended for women who are planning a pregnancy after 35 years. According to statistics, in this case, for every 380 children, one child is born with developmental defects due to genetic chromosomal changes.
Chromosomal abnormalities can lead to infertility and miscarriage, so frequent spontaneous abortions, arrest of fetal development during pregnancy and inability to conceive require determination of the karyotype of the spouses.
If there is a child in the family with developmental problems, then before planning a second pregnancy it is necessary to carry out this type genetic examination.
Also, karyotype analysis is necessary for people at risk: those who have relatives with genetic changes in the chromosome set, are constantly exposed to influence in the course of professional or other activities harmful factors: radiation, chemical, physical.
Methods for determining karyotype
To carry out this analysis, it is necessary to donate blood for karyotype from a vein. IN classical method During the study, the material is subjected to cell culture and fixation for 72 hours. Next comes the process of staining the chromosomes and examining them using light microscopy.
The key to obtaining a high-quality research result is the exclusion of cell death (lack of mitotic activity) due to the long time interval from the moment of blood collection to the receipt of the biomaterial for work. Thanks to the established methodology for performing analysis on determination of karyotype within the framework of the VitroClinic center, the analysis will be performed immediately after taking the biomaterial from the patient.
The desire to have children with good health characteristic of any person, which is why many married couples go through various studies. One of them is karyotyping of spouses.
The study is also called the method of cytogenetic analysis. The essence of the event is to study the chromosome set of future parents. The test has an almost 100% result and helps determine the factors of a couple’s lack of conception.
In our country, the analysis is not widely known, while in Europe and the USA the procedure has been used for quite a long time. What is it and why is it done?
What is karyotyping and why is it performed?
The purpose of the study is to determine compatibility between partners, which allows one to conceive and give birth to genetically healthy offspring. Karyotyping is performed at the planning stage of the child. However, upon the onset of gestation, the procedure is also carried out: required material They also take it from the baby in the womb to determine the set of chromosomes.
It is easy for a geneticist to identify the risk of a hereditary abnormality in a baby. The body of a genetically healthy person contains 22 pairs of non-sex chromosomes and 2 pairs of sex chromosomes: XY in men, XX in women.
The study shows the presence of the following pathologies:
- Monosomy: absence of 1 chromosome in a pair (Shereshevsky-Turner syndrome).
- Trisomy: an extra chromosome in a pair (Down syndrome, Patau).
- Duplication: a specific part of a chromosome is doubled.
- Deletion: A fragment of a chromosome is missing.
- Inversion: The process by which a section of a chromosome turns around.
- Translocation: chromosomal castling.
Using karyotyping, the state of genes is assessed and the following is identified:
- Gene mutations responsible for the tendency to form blood clots. They can cause spontaneous abortion or infertility.
- Mutation of the Y chromosome - Klinefelter syndrome. A feature of the disease is the presence of the Y chromosome, despite the additional presence of the X chromosome, patients are always male. To achieve pregnancy, you will have to use donor sperm. Variants of the karyotype of Klinefelter syndrome: 47 XXY, 48 XXXY, 49 XXXXY.
- Gene mutations responsible for detoxification processes. There is a low ability of the body to disinfect surrounding toxic factors.
- Mutation in the cystic fibrosis gene. The probability is determined dangerous disease at the baby's.
Thanks to karyotyping, hereditary predisposition to a number of diseases is diagnosed - diabetes mellitus, myocardial infarction, hypertension and pathological processes in the joints.
How much does karyotyping cost? The price of the study depends on the city and the level of the clinic: the average cost is about 6700 rubles. However, all expectant parents are advised to take a test before conceiving. If abnormalities are detected in a married couple in a timely manner, a specialist can create optimal conditions for the development of the child and prevent miscarriage or premature birth.
The doctor talks about hereditary diseases:
Indications for examination
When planning pregnancy, it is advisable for each family to conduct a cytogenetic study. Individual citizens are required to undergo molecular karyotyping.
Let's take a closer look at which category of persons is prescribed the procedure:
- One or both spouses are over 35 years old.
- Infertility of unknown etiology.
- Failure of IVF attempts.
- The presence of hereditary pathologies in the parents.
- Endocrine disorders in expectant mother.
- Impaired ejaculation or sperm activity of unknown etiology.
- The presence of unfavorable ecology and labor activity with chemicals.
- Availability bad habits in the form of smoking, drinking alcohol, drugs or taking medications.
- Recorded cases of spontaneous miscarriages, missed abortions or premature births.
- Marriage with a blood relative.
- Already born children with genetic pathologies.
- One of the couple receives radiation exposure.
Preparing for analysis
To study chromosomes and determine gene deformation, it is necessary to take blood cells. Don't worry that laboratory test may harm you or your child: it is absolutely safe.
The method of preparing for the test includes measures that are carried out starting 2 weeks before the expected analysis:
- Stop drinking alcohol and smoking.
- Do not take during this period medications, especially antibiotics.
- Take the test in the absence of acute diseases or exacerbation of chronic ones.
Mechanism
For the test, venous blood is taken from both partners. The study lasts for 5 days. During the specified time, lymphocytes in the mitotic division phase are isolated from the plasma. Within 72 hours, an analysis of the proliferation of blood cells is carried out, which makes it possible to draw a conclusion about the presence of pathology and the risk of miscarriage. At the division stage, a specialist examines chromosomes by preparing microslides on glass.
The laboratory technician can perform the test with or without diphostaining of chromosomes. For better visualization, the specialist performs differential staining of the nucleoprotein structure, after which their individual striations become clearly visible. The number of chromosomes is counted, the striation of paired chromosomes is compared, and the structure of each is analyzed.
The unique technology allows you to get an accurate result by examining 15 lymphocytes. This means you do not need to donate blood or body fluids again. One karyotyping analysis of a married couple makes it possible to plan a pregnancy and give birth to healthy children.
When conception has already occurred, experts recommend doing a test in the early stages of gestation to identify pathologies such as Down syndrome, Turner syndrome, Edwards syndrome, cat cry and other anomalies. Material is collected from the child in the womb and spouses.
There are invasive and non-invasive methods of prenatal karyotyping. The first is considered safer and involves the implementation ultrasound diagnostics with blood sampling from the expectant mother to determine markers.
The invasive method is considered more accurate and almost completely eliminates errors, but can sometimes be quite risky and therefore requires inpatient observation for several hours. To conduct such a study, special equipment is needed that is used to manipulate inside the uterus to take genetic material.
To identify traces of the influence of aggressive factors on a DNA strand, a karyotype with aberrations is determined. The procedure is considered an advanced genetic examination, in which specialists carefully examine 100 cells to calculate abnormal metaphases. The test is quite labor-intensive, and many laboratories do not conduct such a test.
What to do if the examination reveals abnormalities - the doctor advises
In humans, there are 46 chromosomes in the nuclei of somatic cells, one pair of which are the sex chromosomes: the normal female karyotype is represented as 46 XX and the male karyotype as 46 XY. Having received the cariogram, the geneticist interprets the test and conducts a special consultation for the couple, during which he explains the possibility of having a child with pathology or abnormalities. He recommends that they undergo a course of therapy at the stage of planning a child, after which it is possible to prevent disorders in the baby.
When abnormalities are detected already during gestation, the doctor advises to terminate the pregnancy in order to try to conceive a healthy baby next time. Or the doctor gives the spouses the right to choose in which they will be ready for the birth of a “special” child. If everything is normal for the expectant parents and there is excellent compatibility, the specialist tells them in detail all the stages of pregnancy planning.
When identifying hereditary disorders You can use the donor's genetic material from your partner. For this purpose, the sperm of a healthy man is used.
Conclusion
The birth of a healthy child is the most important task parents. At the pregnancy planning stage, you can avoid pathologies by performing a cytogenetic study. Carrying out karyotyping of spouses allows us to identify the compatibility of the couple and possible violations in the baby, and during pregnancy, determine the presence of developmental abnormalities in the fetus.
A karyotype is the name of the type of chromosomes characteristic of a given biological species, and its definition is great importance in a comprehensive examination of the couple’s reproductive system. To determine this, a special molecular analysis is required, which gives a complete picture of the genetic characteristics of a given couple, and based on this picture, options for solving problems are proposed. This test is a study of the shape, number and size of chromosomes in a sample of cells.
The presence of additional chromosomes or parts thereof, the absence of a chromosome or part of any of them can cause problems with the development of the functions of organs and systems. Even quite healthy man may be a carrier of chromosomal rearrangements, although there are no visible signs of their presence. Because of them, there may be problems with pregnancy, infertility, and congenital malformations of the embryo.
Why do a blood test for karyotype?
First, a blood test helps determine pathologies in the chromosome set of a pair - translocation, mosaicism, deletion, monosomy, trisomy, etc.
This chromosomal analysis is done to find out what is causing congenital diseases or defects of the child; whether a chromosome defect causes infertility or miscarriage; whether the fetus has abnormal chromosomes; Are the chromosomes of an adult abnormal, and what effect do they have on his and the unborn child’s health; determine the sex of a person through the presence or absence of the Y chromosome (for example, if the sex of the child is not clear); to help you choose suitable treatment for some types of tumors.
Already in the early stages of pregnancy, those genetic changes that are characteristic of the fetus are visible: Patau, Shereshevsky-Turner, Down, Klinefelter, Edwards, Prader-Willi syndromes, autism and other serious developmental defects.
Who needs chromosome analysis?
In theory, every couple is shown this analysis, since none of us can vouch for our genes.
As a person ages, the likelihood of chromosomal changes increases, so if a husband and wife are over 35 years old, a chromosomal analysis is indicated for them. In case of frequently repeated spontaneous abortions, arrest of fetal development, inability to conceive, such a blood test is also done for both partners. When there is already a child with developmental problems, and a second pregnancy is planned, the husband and wife definitely need to check the karyotype. Well, it is clear that if there are relatives with genetic changes in the set of chromosomes, or a person is constantly under the influence of harmful factors (chemical, physical, radiation), this test must be taken without question.
This type of analysis helps identify:
- anueploidy – that is, a change in the number of chromosomes towards an increase/decrease from the norm. True, they can be difficult to determine in the case of low-level mosaicism (when the body contains cells with an altered set of chromosomes in a small number along with normal cells). Although, aneuploidies occupy a small part both in the structure genetic pathology in general and among the reasons birth defects development;
- structural abnormalities of chromosomes - joining in an abnormal combination after a break. Karyotype studies can in this case only large anomalies can be determined, but such changes are accessible to the fluorescent hybridization method and special microarray chromosomal analysis.
Donating blood for analysis
No special preparation is required, the main thing is to find an experienced geneticist who will help you understand, explain everything, weigh the risks, and make the right decision.
At classic test(which has 5 subspecies) an amount of blood of about 10-20 ml is taken from a vein, and the cells are cultured and fixed. Next, the chromosomes are stained and examined using light microscopy. If this is a case of prenatal diagnosis, the analysis is done on cells obtained from the placenta or amniotic fluid. Sometimes bone marrow cells are tested.
There is also SKY (spectral karyotyping) - this is a completely new, highly effective method for studying chromosomes, which quickly and clearly identifies chromosomal abnormalities in cases where it is impossible to establish the origin of chromosomal material using standard karyotyping methods. The method is based on 24-color fluorescent staining of whole chromosomes.
SKY is an excellent tool for chromosome markers, clinical chromosome analysis translocations, complex interchromosomal rearrangements, and finds multiple chromosomal abnormalities.
Fish analysis method (fluorescent hybridization) is another modern effective method studies of numerical abnormalities in chromosomes, and complex abnormalities in the karyotype. In this type of analysis, the basis is the specific binding of fluorescent tags and specific chromosome regions. This approach makes it possible to test a larger number of cells than with classical karyotyping, since, although it is carried out on blood cells, it does not require their cultivation. The material for Fish analysis can be fetal, embryonic or sperm cells.
When getting married, everyone dreams of a happy, long life surrounded by their beloved children. However, the happiness of becoming parents, unfortunately, is not available to everyone. There are a great many causes of infertility, and genetic disorders are not the least important among them. Therefore, in developed countries, determining the karyotype of spouses is mandatory procedure for those wishing to enter into a marriage.
As we remember from biology, a karyotype is a description of chromosomes in somatic cells(their number, shape, size and structural features). A person can be the owner of sections of rearranged chromosomes without even knowing it. The problem will only arise when trying to conceive, because a chromosome defect greatly increases the risk of missed pregnancy, miscarriage, or the birth of a child with genetic diseases.
Of course, changing the karyotype of spouses for the better is impossible. But, knowing about the causes of infertility or miscarriage, you can find ways to solve this problem. For example, turn to the artificial insemination program. Moreover, taking into account high risk birth of unhealthy offspring, there is always the opportunity to use donor biomaterial (eggs or sperm).
Karyotyping
Karyotyping, karyotype research or cytogenetic analysis is a procedure designed to identify deviations in the structure and number of chromosomes that can cause infertility or hereditary diseases in an unborn child.
Every organism has a specific set of chromosomes, called a karyotype. Distinctive feature human karyotype - 46 chromosomes (44 autosomes - 22 pairs, which have the same structure in the female and male body, and a pair of sex chromosomes). Women have two X chromosomes (karyotype 46XX), men have one X chromosome and one Y chromosome (karyotype 46XY).
Each chromosome carries genes responsible for heredity, and karyotyping, in turn, makes it possible to detect hereditary diseases that are directly related to changes in the karyotype (malfunctions in the chromosome set, chromosome shape, defects in individual genes). These diseases include syndromes: Down, Patau, Edwards; "Cry of the cat" syndrome. Such diseases are found in people who have inherited karyotype 47, which has one extra chromosome in its set.
Today, two main methods of karyotype research are used:
1. Chromosome analysis of blood cells of applicants (cytogenetic examination);
2. Prenatal karyotyping (analysis of fetal chromosomes).
Cytogenetic examination allows us to identify cases of infertility or miscarriage, when the chance of having offspring is sharply reduced in one of the spouses, and sometimes completely absent. In addition, it is possible to detect cases significant increase genome instability, and then special treatment with antioxidants and immunomodulators will to some extent reduce the risks of developing conception failures.
Prenatal karyotype examination (karyotyping) makes possible definition chromosomal pathology fetus at its most early stages pregnancy. And this is very relevant, because the disappointing numbers medical statistics they say that out of 350 newborn male babies, one is sure to have a 47XX karyotype or a 47XY karyotype, entailing all accompanying illnesses. Do not think that newborn girls do not suffer from genetic diseases. Turner syndrome, which causes a 45 X karyotype, like other diseases, also occurs quite often.
- chromosomal pathology in the family or clan;
- miscarriage;
- the age of the pregnant woman is over 35 years (for 30 births - 1 case of genetic pathology);
- assessment of mutagenic effects (chemical, radiation or other).
Cytogenetic examination of future parents
To analyze the chromosome set, blood is taken from patients and lymphocytes are isolated. They are then stimulated in vitro, forcing them to divide, and a few days later the culture is treated with a special substance that stops cell division at the stage when chromosomes are already visible. From the cells obtained in culture, smears are prepared on glass, which are then used for research.
Receipt additional information about a possible change in the karyotype is indicated by the use of special staining, as a result of which all chromosomes receive a specific cross-striation. When the karyotype and idiogram (systematic image of a set of chromosomes) are obtained, the analysis procedure begins.
The geneticist examines 11 or 13 cells under a microscope to identify changes in the karyotype (chromosome set), trying to detect quantitative and structural discrepancies. For example, with Turner syndrome, which is manifested by short stature, features of the facial structure and female infertility, karyotype 45X is detected, i.e. There is one X chromosome and not two, as is normal.
In Klinefelter syndrome, characterized by male infertility, on the contrary, there is an extra X chromosome, which will be expressed by karyotype 47 XX. In addition, structural abnormalities of the chromosomes themselves are detected, such as: inversion - rotation of a chromosome section by 180°; deletion is the loss of sections of chromosomes, translocation is the transfer of fragments of one chromosome to another chromosome, etc.
Prenatal diagnosis
This set of procedures is an intrauterine examination of a child before his birth, aimed at identifying hereditary diseases or developmental defects. There are several types of this research.
1. Non-invasive methods. They are completely safe and mean ultrasonography fetus and identification of certain biochemical markers from the blood of a pregnant woman.
2. Invasive methods, which involve a controlled “invasion” into the uterus in order to collect material for research. This way you can accurately determine changes in the fetal karyotype and warn about possible accompanying pathologies(Down syndrome, Edwards syndrome, etc.)
Invasive procedures include: chorionic villus biopsy, amniocentesis, placentocentesis, cordocentesis. For the purpose of research, chorion cells or placenta, amniotic fluid or blood taken from the fetal umbilical cord are taken.
Performing invasive procedures has risks of complications, so they are performed only according to strict indications:
- age limit (women over 35);
- children already born in the family with changes in karyotype or developmental defects;
- parental carriage of chromosomal rearrangements;
- changes in the level of biochemical markers (PPAP, hCG, AFP);
- detection of pathologies during fetal ultrasound.
Invasive diagnostics is also carried out if the fetus is at high risk of developing gene disease or determining the sex of an infant in diseases whose inheritance is associated with gender (for example, hemophilia, which a mother can only pass on to her sons).
All invasive procedures carried out only by experienced specialists in day hospital and under ultrasound control. After the manipulations, the pregnant woman will remain under observation for a couple of hours. For prevention purposes possible complications a woman is prescribed some medicines. The resulting fetal cells are analyzed by molecular methods to detect changes in the karyotype and identify specific gene diseases.
Today, using this method it is possible to diagnose 300 out of 5 thousand known hereditary diseases, such as hemophilia, phenylketonuria, cystic fibrosis, Duchenne muscular dystrophy and others.
