Risk groups for the development of chromosomal syndromes. Chromosomal abnormalities of the fetus: how and at what time are detected, the necessary tests
Dear ones, I am asking you for help! They sent me such a letter, I just cannot stand aside, because the question is about the LIFE of a BABY who is in the womb. And what, for us and for her, the main thing in life is only the life and health of our children! So let's not stand aside and help, at least a small part of our attention and means. After all, every ruble presented to a baby gives him a chance to LIVE AND BECOME HEALTHY! Good day! I am asking you for a very urgent help! I am 39 years old, pregnancy 22 weeks! Having done an ultrasound scan at 18 weeks, the doctors shocked me that my baby had CDF - a diaphragmatic hernia of the fetus (the stomach is in the chest cavity and makes it difficult for the heart and lungs to develop). Since then I have gone through 5 ultrasounds and 2 consultations in the city of Kaliningrad. As a result, the doctors said that we urgently needed to go to Moscow for a consultation at the Scientific Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakova of the Ministry of Health of Russia There are chances to cure my baby, and there are high chances. Now it is 21-22 weeks to go to the consultation, they said they could urgently perform an operation in utero. In the mother's womb, a hernia is operated on a child by laparoscopy and the chances of having a healthy child increase to 96-98%. According to a preliminary estimate, the required amount for treatment is about 200 thousand rubles. At the moment we are not able to find such an amount. I have not been working since October, as I have been lying in storage all this time. my husband's salary is low, and the amount needs to be raised very urgently - the concilium and a possible operation need to be carried out in the next 1 to 2 weeks. We appeal to you with a request to help with funds and give my baby a chance for life. Of course, my husband and I do not give up, we will fight for the life of our child .. but still PLEASE, PLEASE HELP !!! our details Yandex money Dear, I am asking you for help! They sent me such a letter, I just cannot stand aside, because the question is about the LIFE of a BABY who is in the womb. And what, for us and for her, the main thing in life is only the life and health of our children! So let's not stand aside and help, at least a small part of our attention and means. After all, every ruble presented to a baby gives him a chance to LIVE AND BECOME HEALTHY! Good day! I ask you for very urgent help! I am 39 years old, pregnancy 22 weeks! Having done an ultrasound scan at 18 weeks, the doctors shocked me that my baby had CDF - a diaphragmatic hernia of the fetus (the stomach is in the chest cavity and makes it difficult for the heart and lungs to develop). Since then, I have gone through 5 ultrasounds and 2 consultations in the city of Kaliningrad. As a result, the doctors said that we urgently needed to go to Moscow for a consultation at the Scientific Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakova of the Ministry of Health of Russia There are chances to cure my baby, and there are high chances. Now it is 21-22 weeks to go to the consultation, they said they could urgently perform an operation in utero. In the mother's womb, a hernia is operated on a child by laparoscopy and the chances of having a healthy child increase to 96-98%. According to a preliminary estimate, the required amount for treatment is about 200 thousand rubles. At the moment we are not able to find such an amount. I have not been working since October, as I have been lying in storage all this time. my husband's salary is low, and the amount needs to be raised very urgently - the concilium and a possible operation need to be carried out in the next 1 to 2 weeks. We appeal to you with a request to help with funds and give my baby a chance for life. Of course, my husband and I do not give up, we will fight for the life of our child .. but still PLEASE, PLEASE HELP !!! our bank details Yandex money: 410014049088714 Card of the Sberbank of Russia: 4276 2000 1177 5926 QIWI: 79114871215 Sberbank details: BIK of the beneficiary's bank 042748634 Beneficiary's bank KALININGRAD OSB N 8626 KALININGRAD No. I will provide the documents in a personal
Here is a unique book that reveals the causes of a frozen pregnancy - the most urgent problem for expectant mothers. After reading it, you will learn about the most common causes of early fetal death: chromosomal abnormalities, infections, hereditary thrombophilia and many others. The author, Ph.D., will tell you how you can prevent these diseases and get a chance to have a baby. In the book, you will also learn about the ancient Chinese secrets of conception and carrying a pregnancy that will help defeat fear in the path of motherhood.
Fetal chromosomal abnormalities
The most common cause of termination of pregnancy is hereditary pathology in the fetus. More often it is any chromosomal abnormality, usually incompatible with the life of the fetus and leading to spontaneous miscarriage, or the birth of children with developmental defects.
More often embryos with an incorrect karyotype (set of chromosomes) die in the first weeks of pregnancy. So, in the first 6–7 weeks of pregnancy, the majority (60–75%) of dead fetuses have the wrong karyotype, at 12–17 weeks - a quarter (20–25%), 17–28 weeks - only 2–7%. We will talk in detail about the types of chromosomal abnormalities (CAs) that prevent the continuation of pregnancy in this section. Let's start with the basics of genetics.
DNA secrets
All information about the structure of our body, predisposition to disease, as well as age-related changes and longevity is located in DNA (deoxyribonucleic acid) molecules. It provides storage, transmission from generation to generation and implementation of the genetic program for the development and functioning of the body, the structure of proteins from which the body is built.
DNA is located in the nucleus of the cell as part of the chromosomes. Each person has 46 paired chromosomes (Figure 4): the first set (22 chromosomes) we get from one parent, the second from the other. 44 out of 46 chromosomes do not depend on sex, and two determine it: XY - in men or XX - in women.
Figure 4. Human chromosome set
From a chemical point of view, DNA consists of repeating blocks of nucleotides that form two chains of ribonucleic acid (RNA), twisted in a spiral together (Fig. 5). Therefore, the structure of the DNA molecule is called the "double helix". DNA is the body's genetic library that is found in every cell. In total, each person has 120 billion miles of DNA.
Figure 5. DNA replication
There are four types of nitrogenous bases in DNA (adenine, guanine, thymine and cytosine). Their sequence allows you to "encode" information about the structure of the whole organism. Chromosomes contain approximately 3 billion DNA base pairs in total, making up 20,000-25,000 genes.
Cell reproduction occurs through DNA replication (Fig. 5). At the same time, it unwinds into two RNA strands (a). They diverge and form a replication fork (b). Then each RNA becomes a template on which a similar strand is completed (c). As a result, two new double-stranded DNA molecules (d) are formed, identical to the parent molecule.
Protein synthesis in cells occurs in a similar way: DNA unwinds; information is read from it by the method of completing RNA, which leaves the nucleus into the ribosomes (cell structures), where it becomes a matrix for protein synthesis; the unwound DNA coils again.
Fundamentals of Genetics
Genes are carriers of human hereditary information. Each gene is a section of a DNA molecule that carries information about a specific protein. The complete set of human genes (genotype) is responsible for the functioning of the body, its growth and development. The totality of many genes determines the uniqueness of each person.
Genes are passed on to the child from the parents: one “set” from the mother, the other from the father. That is why children are so much like their parents.
If from both parents we got the same genes responsible for any trait, for example, blue eye color, then the genotype is considered homozygous for this trait, and the eye color will be blue (Figure 6 a).
If we inherited different genes (for example, from the mother - blue eyes, from the father - dark), then the genotype is considered heterozygous (Figure 6 b). In this case, the dominant feature appears, and the color of the eyes will be dark.
The genes in different people are similar, but there are slight differences - polymorphisms. Significant changes in genes that lead to dysfunction of cells are called mutations (aberrations). In a living cell, genes are constantly mutating. The main processes during which failures occur are DNA replication and transcription.
Some changes (polymorphisms or mutations) lead to intrauterine fetal death, others become the causes of genetic diseases and appear immediately after birth, and still others are a factor that only predisposes to the occurrence of certain diseases.
Figure 6. Homozygous (a) and heterozygous (b) types
Types of chromosomal abnormalities
There are two main types of chromosomal abnormalities (mutations, aberrations):
1. Quantitative changes in the number of chromosomes (aneuploidy): the presence of an additional chromosome (trisomy) or the absence of one of the two paired chromosomes (monosomy). They arise when the divergence of chromosomes in the process of cell division is disturbed, as a result of which the genetic material is unevenly distributed among the daughter cells. Aneuplodia leads to miscarriages or the formation of malformations.
The most common trisomy on chromosome 16, which results in early spontaneous miscarriage. Carriers of trisomy on chromosomes 13 (Patau syndrome) and 18 (Edwards syndrome) can survive to birth, but they have significant developmental disorders, and therefore more often die immediately after birth.
The only type of trisomy on autosomal (non-sex) chromosomes, in the presence of which a viable child can be born, is Down's syndrome (trisomy on chromosome 21). I will discuss this pathology in detail in the corresponding chapter.
Also described are chromosomal abnormalities in which the number of sex chromosomes increases. The most common: Shereshevsky-Turner syndrome (we will talk about it separately); Klinefelter's syndrome (47XXY instead of 46XY), in which it is possible to give birth to a male baby endowed with some secondary female sex characteristics, and others.
If there is an additional set of chromosomes in the cell, polyploidy is formed. For example, when one egg is fertilized with two spermatozoa at once, triploidy (triple set of chromosomes) occurs.
2. You may also experience abnormalities in the structure of chromosomes: deletion (loss of a part), inversion (rotation of a part of a chromosome by 180̊), a ring (a chromosome forms a ring structure), duplication (repetition of a part of a chromosome), translocation (transfer of a part of a chromosome to another).
With balanced structural disorders of chromosomes, the amount of chromosomal material presented corresponds to the norm, only their configuration is changed. A person with structural aberrations of chromosomes, as a rule, does not have any manifestations, except for possible problems with the reproduction of healthy offspring. Chromosomal abnormalities can be passed from parent to child.
Down Syndrome
The mechanism of occurrence of Down's syndrome is a violation of the divergence of chromosomes during the maturation of germ cells (gametes).
During this process, in both men and women, a normal somatic cell, containing a double (diploid) set of chromosomes, divides into two daughter cells with a halved number of chromosomes (Fig. 7). If the number of chromosomes in gametes remained diploid, as in somatic cells, then during fertilization in each generation it would double.
Figure 7. Maturation of germ cells from the somatic
In case of violation of the divergence of chromosomes, gametes with an incorrect number of them mature. If such a "pathological" germ cell will participate in fertilization, then there is a high risk of conceiving a child with hereditary pathology.
In the presence of an additional 21st chromosome, Down's syndrome is formed (Fig. 8). This is one of the forms of genomic pathology, in which the karyotype is represented by 47 chromosomes (trisomy on chromosome 21) instead of 46, that is, from one of the parents (the carrier of the disease), the child got not one 21st chromosome, as expected, but two; the third he received from another (healthy) parent.
The change in the number of chromosomes is often incompatible with life and leads to the death of the embryo, which is one of the main reasons for miscarriage in the first trimester. However, fetuses with Down syndrome do not always die. Often, such children are still born - on average, there is one case in 700 births.
Figure 8 Chromosome 21 trisomy. Down Syndrome
Down syndrome is a severe disorder characterized by dementia, developmental delay, and other congenital malformations. At the moment, thanks to prenatal diagnostics, the frequency of births of children suffering from this pathology has decreased to 1 in 1100.
Children with Down syndrome can develop in genetically healthy parents. However, the likelihood of conceiving such a child increases with age. If the woman is over 45 years old, then the risk is 1:19. The incidence of this syndrome also increases in a child whose father is over 42 years old.
Shereshevsky-Turner syndrome
One of the reasons for termination of pregnancy is a genetic fetal disease such as Shereshevsky-Turner syndrome. This is a chromosomal pathology characterized by the presence of monosomy on the X chromosome (one X chromosome instead of two).
Pregnancy in the presence of such a syndrome in the fetus most often (in 98%) ends in spontaneous miscarriage in the early stages. If this did not happen, and a girl with Shereshevsky-Turner syndrome was born, she will lag behind in physical development. Typical symptoms of the syndrome are: short stature, barrel chest, shortened neck. In this case, the intellect most often does not suffer.
Due to a defect or complete absence of one sex X chromosome, the formation of the sex glands is disrupted: the ovaries may be completely absent, the uterus may be in its infancy.
Since in this pathology, the ovaries usually do not exist, estrogens are not produced. As a result, the level of gonadotropins increases and amenorrhea (absence of menstruation) is noted.
The main type of treatment for patients with Shereshevsky-Turner syndrome is hormonal therapy, which begins at the age of 14-16. This leads to feminization of the physique, the development of female secondary sexual characteristics, and reduces the increased activity of the hypothalamic-pituitary system. Therapy is carried out throughout the childbearing age of patients. However, women with Shereshevsky-Turner syndrome are infertile due to the lack of ovaries.
How often is pregnancy terminated in case of chromosomal abnormalities?
Chromosomal aberrations are the most common cause of miscarriage: 50 to 95% of spontaneous abortions are due to fetal chromosomal abnormalities. With a frozen pregnancy, among chromosomal abnormalities, the following are more often detected:
–45–55% - autosomal trisomies,
–20–30% - monosomy,
–15–20% - triploidy.
Parents of a fetus with an increased number of chromosomes are most often healthy, and the analysis of their karyotype is not very informative. The risk of re-occurrence of quantitative chromosomal aberrations (eg, trisomy) in subsequent pregnancies is about 1%, which will require prenatal diagnosis in the first trimester. The married couple should be informed about this in case of fetal death and CA detection.
When a fetus detects structural chromosome aberrations, parental karyotyping is mandatory, since in families where one of the parents has a chromosome disorder (for example, translocation), the risk of spontaneous abortion increases to 25% -50%.
In some cases, with structural aberrations of the fetal chromosomes, pregnancy may progress, and a child with significant malformations will be born. The likelihood of a healthy baby being born in parents with structural chromosomal aberrations remains. But in 1-15% of cases, he will have genetic abnormalities.
As we have already said, cytogenetic study of abortion material plays an important role in establishing the cause of spontaneous miscarriage.
Visit a geneticist
A visit to a geneticist can help determine the reasons for the termination of pregnancy.
Question: Tell me what should I do? I could not get pregnant for 4 years, then I did it. But at 6 weeks, an ultrasound scan said that there was a threat of miscarriage. Then everything was fine, and at 12 weeks bleeding began. They did a second ultrasound, they said that the fetus froze in development at 9 weeks. Please tell me what treatment to get, and can I still get pregnant? Thanks.
Question: I once had a curettage, the second time a medical abortion, since both pregnancies were frozen. Has passed tests for latent infections, the result is negative. There was no birth, I really want a baby. Please tell me what other tests do I need?
It is the chromosomal pathology of the fetus that leads to its intrauterine death in the early stages of development (the so-called "frozen pregnancy") and spontaneous miscarriage. Therefore, if you have had miscarriages or missed pregnancies in the past, you should undergo a genetic test.
Often, expectant mothers are very wary of medical and genetic counseling. And in vain! This study allows you to determine in advance the degree of risk of having children with genetic abnormalities.
Such disorders in the fetus can be inherited from one of the parents or be caused by unfavorable external influences: smoking of the expectant mother, drinking alcohol, taking certain medications, past infections, exposure to radiation during and before conception.
A specialist consultation is required if:
–The future parents or their relatives have any hereditary diseases;
–The family has a child with a genetic pathology;
–The future parents are relatives;
–The age of the expectant mother is over 35 years old, the father is over 40 years old;
–Previous pregnancies were frozen or ended in spontaneous miscarriages;
–The future parents were exposed to radiation or worked with harmful chemicals for a long time;
the mother-to-be took strong medications during conception and / or early pregnancy.
Couples at risk should undergo a medical genetic examination without fail. If desired, any couple planning a child can consult a geneticist.
After the onset of pregnancy, special control is established for women at risk. At 10-13 weeks of pregnancy, it is necessary to carry out prenatal diagnostics of the baby's health, which we will talk about later.
First trimester screening
A set of measures aimed at early detection of fetal pathology is called prenatal diagnosis. According to the latest order of the Ministry of Health and SR No. 808 dated 02.10.2009, the screening of the first trimester, which is carried out at 11-14 weeks of pregnancy, includes the following studies:
1. Fetal ultrasound with assessment:
–The thickness of the collar space (TVP), the area between the inner surface of the fetal skin and the outer surface of its soft tissues covering the cervical spine, in which fluid can accumulate; normally, in terms of 11-14 weeks, TVP is 2-2.8 mm; is a marker of fetal chromosomal abnormalities, primarily Down's syndrome;
- the presence and length of the nasal bone (NK); normally for a period of 12-13 weeks is 3 mm; her absence is suspicious of Down syndrome.
2. Maternal serum markers ("double test"):
–Free human chorionic gonadotropin (b-hCG); normally, for a period of 12 weeks, its level is 13.4-128.5 ng / ml; 13 weeks - 14.2-114.7 ng / ml; 14 weeks - 8.9-79.4 ng / ml; allows you to determine the risk of developing certain trisomies: Down syndrome (21 chromosomes), Edwards syndrome (18) and Patau syndrome (13);
- Pregnancy-associated plasma protein A (PAPP-A): normal for a period of 11-12 weeks is 0.79-4.76 mU / l, 12-13 weeks - 1.03-6.01 mU / l; 13-14 weeks - 1.47-8.54 mU / l; with Down and Edwards syndrome, its level is reduced.
Question: I am 34 years old. At 12 weeks I passed the "double test": PAPP-A is normal - 3.07, and hCG is more than normal (178.0). Ultrasound showed no pathology. Is there a reason to worry? Is it possible to keep the pregnancy?
The inconsistency of the first trimester screening results with the norms does not indicate the need for immediate termination of pregnancy, but only signals a possible risk, which, after passing the examination, is calculated individually for each patient.
If there is a suspicion of the presence of pathology in the fetus, according to the screening data, the question of conducting an in-depth (invasive) examination is raised. The most reliable way to make a diagnosis is to study the chromosomal set of fetal cells. For this purpose, study the amniotic fluid (perform amniocentesis), placental tissue (placentocentesis), chorionic villi (biopsy), fetal umbilical cord blood (cordocentesis).
Comment from the forum : I am 38 years old. I got registered for pregnancy only at 11 weeks. At the first screening at 12 weeks, the ultrasound doctor measured the thickness of the collar space 2.9 mm, hCG was also increased. They were sent to a geneticist, where it turned out that this could be an indicator of Down's syndrome. They offered to do an amniocentesis at 18 weeks to determine exactly whether there is a syndrome or not, but I refused. Until recently, I hoped that the doctor was mistaken, the measurement was not accurate. But at 21 weeks, at the second screening, the same doctor discovered that the child had a complex inoperable heart defect and kidney pathology. As they explained to me, these are also signs of Down syndrome. The commission decided to induce an artificial birth. It's a shame that I didn't trust the doctors earlier. So the first screening is a good thing!
At a high risk of chromosomal abnormalities in the fetus, the woman is offered an additional invasive examination (amniocentesis, cordocentesis) in order to obtain fetal cells and study their chromosomal set.
As we said, invasive procedures are fraught with a number of complications. Therefore, I quite often come across the fact that the results of biochemical screening cause a lot of worries and questions in women.
Practical history: I have a young patient Irina with thrombophilia. Once, after passing the first screening, she wrote me a letter: “Olga, good evening. I did an ultrasound, everything is fine there. And now the transcript of the biochemical screening came, and I was shocked by it ... Can I send you the results? "
The analysis determined a low level of PAPP-A. The computer calculated the child's likely risk of developing Down syndrome:> 1:50.
Irina was very worried, because this is her long-awaited pregnancy after two miscarriages. Is Down now? I explained to my patient that PAPP-A decreases not only due to the chromosomal abnormality of the fetus, but also for other reasons. First of all, a low level of PAPP-A may indicate the threat of termination of pregnancy.
Irina recalled that in the previous pregnancy before the miscarriage, the PAPP-A value was also low. Therefore, we decided to focus on drugs that prevent the occurrence of fetal-placental insufficiency. In addition, I prescribed a second course of blood thinning low molecular weight heparin.
The girl calmed down. A few weeks later, she underwent a second ultrasound screening, according to which the fetus was developing normally. She sent me the perfect ultrasound results and wrote that there was also my merit in achieving them)
Well, for those women who, having received the results of the first screening, are worried about the increased risk of developing chromosomal abnormalities in the fetus, I recommend, without waiting for the second screening ultrasound, to undergo a simple examination (Irina, unfortunately, was not able to do it).
Non-invasive prenatal test
An alternative to biochemical screening and invasive procedures during pregnancy (chorionic villus sampling, amniocentesis) today is the non-invasive prenatal test (NIPT). It is performed using conventional venous blood sampling from the expectant mother.
5-10% of the fetal DNA circulates in the mother's blood. NIPT allows you to isolate fetal DNA from the blood of a pregnant woman and analyze it using the latest technology.
NIPT is used in many countries of the world: USA, UK, Spain, Germany, France, Italy, Brazil, South Korea, Singapore, Chile, etc. Disadvantages: the test is not performed everywhere and is expensive.
Modern diagnostic technologies make it possible to identify any abnormality in the development of the fetus from the earliest stages of pregnancy. The main thing is to pass all the necessary examinations in a timely manner and follow the recommendations of specialists.
Second trimester screening
The tactics of conducting prenatal diagnostics in the second trimester have changed significantly in recent years. It is important to know this for expectant mothers with suspected fetal chromosomal abnormalities.
So, according to an earlier order of the Ministry of Health of Russia No. 457 of 12/28/2000, screening of the second trimester was to include three times ultrasound at 22-24 weeks of pregnancy and an assessment of biochemical markers of fetal malformations at 16-20 weeks (the so-called "triple test" ): alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG) and estriol (E 3).
The implementation of the "triple test" was designed to identify fetal malformations, primarily Down syndrome. However, studies conducted over the next 9 years have shown that the prenatal diagnostic scheme approved by Order No. 457 does not reduce the frequency of births of babies with congenital defects, for example, Down's syndrome. The incidence of children and their mortality, including intrauterine, remained high, despite the work of antenatal clinics by order of the Ministry of Health of the Russian Federation No. 457. These data are confirmed by comments from the forums:
Comments from the forum:
-Yes, I would only do the first screening, if he is ok, then everything will be fine! And no further screenings are needed! Even if they show something "wrong", is it really possible to have an abortion at this time? And he suddenly turns out to be absolutely healthy! So you can't forgive yourself for this all your life!
-I did the screening two times: the first was normal, the second showed an increased (1:32) risk of Down syndrome! According to the ultrasound, everything was in order, but the doctor, just in case, recommended an amniocentesis. No pathology was found. A healthy girl was born !!! So I didn't understand why I did the second screening and amniocentesis? It is a pity that there are very few good thoughtful specialists.
- Personally, I was very disappointed in the second screening. On the first, I was all right, and on the second, they found an increased hCG. My doctor told me that this is a fetal pathology. Can you imagine what happened to me !? I shed so many tears! And pregnant women should not worry! The doctor recommended that I visit a geneticist, but I spat on all the doctors and thought: come what may, because the first screening did not reveal anything! I gave birth to an absolutely healthy baby for everyone's joy! And so I wonder why they came up with this stupid second screening? To shake the nerves of pregnant women?
Due to the low information content of the old scheme of prenatal diagnostics, it was decided to change it. And in 2009, a new order No. 808n was issued, according to which biochemical screening of the second trimester was EXCLUDED from the prenatal diagnostic scheme!
No more "triple test". It is not necessary to carry out it due to the low information content and a large percentage of subsequent unreasonable invasive interventions.
However, some antenatal clinics in our country do not have the necessary information about changes in the procedure for examining pregnant women with suspected chromosomal abnormalities and continue to prescribe a "triple test". I repeat: you don't need to do this now!
In addition, according to the new order No. 808 of 2009, the time for the ultrasound of the second trimester has been shifted from the point of 22-24 weeks to an earlier date (20-22), so that in case of anomalies in the fetus, the woman has the opportunity to terminate the pregnancy up to 24 weeks. that is, until the time when the fetus is considered viable. The next ultrasound is recommended to be performed at 32-34 weeks of gestation.
Ultrasound signs of Down syndrome in the second trimester are: violation of the formation of bones of the skeleton, expansion of the collar space, the presence of heart defects, enlargement of the renal pelvis, cysts of the choroid plexus of the brain. If they are identified, a decision can be made to carry out invasive techniques for the diagnosis of Down syndrome and other chromosomal abnormalities.
But this is not all the innovations in the field of prenatal diagnostics carried out in our country. At present, Russia in this direction is approaching world standards. Don't believe me? I'll tell you about this in detail.
International Standard for Prenatal Diagnosis FMF
In Europe, in recent years, a new branch has appeared - “fetal medicine”, which deals with the health of the baby in the womb. Prenatal diagnosis doctors are trained and certified under the Fetal Medicine Foundation (FMF) program, led by Professor Kipros Nikolaides.
FMF is engaged in research in the field of fetal medicine, diagnosis of anomalies of its development, detection and treatment of various complications of pregnancy, and also provides training and certification of specialists in conducting all types of ultrasound examinations during pregnancy. The purpose of the FMF is to organize, implement and control the quality of standardized examination of pregnant women in the first trimester (11-14 weeks) of pregnancy.
According to the international FMF standard, a survey within this time frame should include:
–Qualified fetal ultrasound scan between 11 and 14 weeks;
–Determination of biochemical parameters of hCG and PAPP-A.
The standardized FMF examination in the first trimester provides both theoretical and practical training for doctors performing ultrasound examinations, as well as further quality control of the studies. At the same time, a standardized study of maternal blood is carried out with a guarantee of high quality work.
The certification process and training material for FMF courses has been brought into line with the generally accepted German requirements. Participants who have passed the theoretical and practical examinations are certified through the FMF-Deutschland society, are registered as ultrasound specialists and are entered on the websites of both FMF-Deutschland and FMF UK.
A certificate for ultrasound examination at 11-14 weeks of pregnancy can only be issued personally to a certified person. Today, hundreds of domestic ultrasound specialists have received FMF certificates.
Certified doctors and centers receive software developed by FMF for calculating the risk of fetal chromosomal abnormalities based on ultrasound and biochemical screening data.
National project "Health"
In Russia at the beginning of this century, the level of prenatal diagnostics lagged significantly behind Europe due to the low level of training of ultrasound doctors.
A chromosomal abnormality is any change in the number or structure of chromosomes. The most famous of these is trisomy on the 21st pair of chromosomes (Down syndrome or Mongolism). In addition, there are many other anomalies. Some of them are incompatible with life and, as a rule, cause miscarriages, others lead to impaired psychomotor development of varying severity, and some changes do not have any adverse manifestations and do not affect a person's life.
The only way to know if your baby has a similar abnormality is to perform tests such as amniocentesis or trophoblast biopsy, which will help determine the karyotype of the fetus. A karyotype is a genetic map of a child. But such studies are carried out only in cases where the risk of a child having a chromosomal abnormality is significantly increased. Therefore, it is very important to accurately assess the likelihood of a chromosomal abnormality.
There are many ways to calculate this risk. They are all well studied from a scientific point of view, but the best method is one that requires a minimum number of tests (and, therefore, allows you to reduce the frequency of unjustified miscarriages), and at the same time allows you to determine the risk of possible chromosomal abnormalities as accurately as possible.
Taking into account these requirements, scientists recommend using a method of determining the degree of risk, which takes into account the following three indicators:
The degree of risk associated with the age of the expectant mother: it is known that the risk of a chromosomal abnormality increases with the age of a woman. For example, the probability of a chromosomal abnormality of the mother's fetus at the age of 20 is 1/1500, and by the age of 39 it rises to 1/128;
The degree of risk associated with the thickness of the occipital fold of the fetus. This indicator is determined by a gynecologist during an ultrasound scan in the period from 11 to 13 weeks for amenorrhea;
The degree of risk, determined by the level of certain substances in the mother's blood during the first trimester of pregnancy (beta-hCG and PAPP-A protein).
This does not mean that your child has trisomy on the 21st pair of chromosomes, but starting from this (1/250) degree of risk, the gynecologist suggests an amniocentesis.
It should be noted that amniocentesis is performed only by 5% of expectant mothers (of all age groups), and in 97% of cases in these 5% of women, the study does not reveal any abnormalities in the karyotype of the fetus. Which suggests that the risk of having a chromosomal abnormality is very small.
The final decision to perform amniocentesis or trophoblast biopsy is made only by a pregnant woman, who has every right to either agree to this study or refuse it. The doctor only helps the woman to make this difficult decision.
Head of
"Oncogenetics"
Zhusina
Yulia Gennadevna
Graduated from the pediatric faculty of the Voronezh State Medical University named after V.I. N.N. Burdenko in 2014.
2015 - internship in therapy on the basis of the Department of Faculty Therapy of V.G. N.N. Burdenko.
2015 - Certification course in the specialty "Hematology" on the basis of the Hematological Scientific Center in Moscow.
2015-2016 - physician therapist, VGKBSMP No. 1.
2016 - the topic of the dissertation for the degree of candidate of medical sciences "study of the clinical course of the disease and prognosis in patients with chronic obstructive pulmonary disease with anemic syndrome" was approved. Co-author of over 10 publications. Participant of scientific and practical conferences on genetics and oncology.
2017 - refresher course on the topic: "interpretation of the results of genetic studies in patients with hereditary diseases."
Since 2017, residency in the specialty "Genetics" on the basis of the RMANPO.
Head of
"Genetics"
Kanivets
Ilya Viacheslavovich
Kanivets Ilya Vyacheslavovich, geneticist, candidate of medical sciences, head of the genetics department of the Genomed medical and genetic center. Assistant of the Department of Medical Genetics of the Russian Medical Academy of Continuing Professional Education.
He graduated from the medical faculty of the Moscow State University of Medicine and Dentistry in 2009, and in 2011 - a residency in Genetics at the Department of Medical Genetics of the same university. In 2017 he defended his thesis for the degree of candidate of medical sciences on the topic: Molecular diagnostics of variations in the number of copies of DNA regions (CNVs) in children with congenital malformations, phenotype abnormalities and / or mental retardation when using SNPs of high-density oligonucleotide microarrays "
From 2011-2017 he worked as a geneticist at the Children's Clinical Hospital named after N.F. Filatov, scientific advisory department of the Federal State Budgetary Scientific Institution "Medical Genetic Research Center". From 2014 to the present, he has been the head of the genetics department at MGC Genomed.
The main areas of activity: diagnostics and management of patients with hereditary diseases and congenital malformations, epilepsy, medical and genetic counseling of families in which a child was born with hereditary pathology or developmental defects, prenatal diagnostics. During the consultation, clinical data and genealogy are analyzed to determine the clinical hypothesis and the required amount of genetic testing. Based on the results of the survey, the data are interpreted and the information received is explained to the consultants.
He is one of the founders of the School of Genetics project. Speaks regularly at conferences. Gives lectures for doctors, geneticists, neurologists and obstetricians-gynecologists, as well as for parents of patients with hereditary diseases. She is the author and co-author of more than 20 articles and reviews in Russian and foreign journals.
The area of professional interests is the introduction of modern genome-wide studies into clinical practice, the interpretation of their results.
Reception time: Wed, Fri 16-19
Head of
"Neurology"
Sharkov
Artem Alekseevich
Sharkov Artyom Alekseevich- neurologist, epileptologist
In 2012, he studied under the international program "Oriental medicine" at the Daegu Haanu University in South Korea.
Since 2012 - participation in the organization of a database and an algorithm for the interpretation of genetic tests xGenCloud (http://www.xgencloud.com/, Project Manager - Igor Ugarov)
In 2013 he graduated from the Pediatric Faculty of the Russian National Research Medical University named after N.I. Pirogov.
From 2013 to 2015, he studied in clinical residency in neurology at the Scientific Center of Neurology.
Since 2015, he has been working as a neurologist, research assistant at the Academician Yu.E. Veltishchev N.I. Pirogov. He also works as a neurologist and doctor of the video-EEG monitoring laboratory in the clinics “Center for Epileptology and Neurology named after V.I. A.A. Kazaryan "and" Epilepsy Center ".
In 2015, he studied in Italy at the “2nd International Residential Course on Drug Resistant Epilepsies, ILAE, 2015” school.
In 2015, advanced training - "Clinical and molecular genetics for practicing doctors", RCCH, RUSNANO.
In 2016, advanced training - "Fundamentals of Molecular Genetics" under the guidance of bioinformatics, Ph.D. Konovalova F.A.
Since 2016 - the head of the neurological department of the Genomed laboratory.
In 2016, he studied in Italy at the San Servolo international advanced course: Brain Exploration and Epilepsy Surger, ILAE, 2016 school.
In 2016, advanced training - "Innovative genetic technologies for doctors", "Institute of Laboratory Medicine".
In 2017 - the school "NGS in Medical Genetics 2017", Moscow State Scientific Center
Currently, he conducts scientific research in the field of epilepsy genetics under the guidance of Professor, MD. Belousova E.D. and professors, d.m.s. Dadali E.L.
The topic of the dissertation for the degree of candidate of medical sciences "Clinical and genetic characteristics of monogenic variants of early epileptic encephalopathies" was approved.
The main areas of activity are the diagnosis and treatment of epilepsy in children and adults. Narrow specialization - surgical treatment of epilepsy, epilepsy genetics. Neurogenetics.
Scientific publications
Sharkov A., Sharkova I., Golovteev A., Ugarov I. "Optimization of differential diagnosis and interpretation of the results of genetic testing by the XGenCloud expert system in some forms of epilepsy." Medical genetics, no. 4, 2015, p. 41.
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Sharkov A.A., Vorobiev A.N., Troitsky A.A., Savkina I.S., Dorofeeva M.Yu., Melikyan A.G., Golovteev A.L. "Surgery of epilepsy for multifocal brain lesions in children with tuberous sclerosis." Abstracts of the XIV Russian Congress "INNOVATIVE TECHNOLOGIES IN PEDIATRICS AND PEDIATRIC SURGERY". Russian Bulletin of Perinatology and Pediatrics, 4, 2015. - p. 226-227.
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Dadali E.L., Belousova E.D., Sharkov A.A. "Molecular genetic approaches to the diagnosis of monogenic idiopathic and symptomatic epilepsies". Thesis of the XIV Russian Congress "INNOVATIVE TECHNOLOGIES IN PEDIATRICS AND PEDIATRIC SURGERY". Russian Bulletin of Perinatology and Pediatrics, 4, 2015. - p. 221.
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Sharkov A.A., Dadali E.L., Sharkova I.V. "A rare variant of early type 2 epileptic encephalopathy caused by mutations in the CDKL5 gene in a male patient." Conference "Epileptology in the System of Neurosciences". Collection of conference materials: / Edited by: prof. Neznanova N.G., prof. Mikhailova V.A. SPb .: 2015. - p. 210-212.
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Dadali E.L., Sharkov A.A., Kanivets I.V., Gundorova P., Fominykh V.V., Sharkova I, V ,. Troitsky A.A., Golovteev A.L., Polyakov A.V. A new allelic variant of type 3 myoclonus epilepsy caused by mutations in the KCTD7 gene // Medical genetics. -2015.- v. 14.-No. 9.- p. 44-47
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Dadali E.L., Sharkova I.V., Sharkov A.A., Akimova I.A. "Clinical and genetic features and modern methods of diagnosing hereditary epilepsies." Collection of materials "Molecular biological technologies in medical practice" / Ed. Corresponding Member RAYEN A.B. Maslennikov. - Issue. 24.- Novosibirsk: Akademizdat, 2016.- 262: p. 52-63
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Belousova E.D., Dorofeeva M.Yu., Sharkov A.A. Epilepsy in tuberous sclerosis. In "Diseases of the brain, medical and social aspects" edited by Gusev EI, Gekht AB, Moscow; 2016; pp. 391-399
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Dadali E.L., Sharkov A.A., Sharkova I.V., Kanivets I.V., Konovalov F.A., Akimova I.A. Hereditary diseases and syndromes accompanied by febrile seizures: clinical and genetic characteristics and diagnostic methods. // Russian Journal of Pediatric Neurology.- T. 11.- №2, p. 33- 41.doi: 10.17650 / 2073-8803- 2016-11- 2-33- 41
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Sharkov A.A., Konovalov F.A., Sharkova I.V., Belousova E.D., Dadali E.L. Molecular genetic approaches to the diagnosis of epileptic encephalopathy. Collection of abstracts "VI BALTIC CONGRESS ON CHILD NEUROLOGY" / Edited by Professor Guzeva V.I. St. Petersburg, 2016, p. 391
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Hemispherotomy for pharmacoresistant epilepsy in children with bilateral brain damage Zubkova N.S., Altunina G.E., Zemlyansky M.Yu., Troitsky A.A., Sharkov A.A., Golovteev A.L. Collection of abstracts "VI BALTIC CONGRESS ON CHILD NEUROLOGY" / Edited by Professor Guzeva V.I. St. Petersburg, 2016, p. 157.
*
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Article: Genetics and differential treatment of early epileptic encephalopathy. A.A. Sharkov *, I.V. Sharkova, E. D. Belousova, E.L. Dadali. Journal of Neurology and Psychiatry, 9, 2016; Issue 2doi: 10.17116 / jnevro 20161169267-73
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Golovteev A.L., Sharkov A.A., Troitsky A.A., Altunina G.E., Zemlyansky M.Yu., Kopachev D.N., Dorofeeva M.Yu. "Surgical treatment of epilepsy in tuberous sclerosis" edited by M. Dorofeeva, Moscow; 2017; page 274
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New international classifications of epilepsy and epileptic seizures of the International League Against Epilepsy. Journal of Neurology and Psychiatry. C.C. Korsakov. 2017.Vol. 117.No. 7.P. 99-106
Head of department
"Genetics of predispositions",
biologist, consultant geneticist
Dudurich
Vasilisa Valerievna
- Head of the department "Genetics of predispositions", biologist, geneticist-consultant
2010 - PR specialist, Far Eastern Institute of International Relations
2011 - Biologist, Far Eastern Federal University
In 2012 - FGBUN SRI FHM FMBF of Russia "Genodiagnostics in modern medicine"
2012 - Study "The introduction of genetic testing in a general clinic"
In 2012 - Professional training "Prenatal diagnosis and genetic passport - the basis of preventive medicine in the age of nanotechnology" Research Institute of AG named after D.I. Ott, SZO RAMS
In 2013 - Professional training "Genetics in clinical hemostasiology and hemorheology" SC SSH named after Bakulev
In 2015 - Professional training in the framework of the VII Congress of the Russian Society of Medical Geneticists
In 2016 - School of data analysis "NGS in medical practice" of the Federal State Budgetary Scientific Institution "MGNC"
In 2016 - Internship "Genetic counseling" of the Federal State Budgetary Scientific Institution "MGNC"
In 2016 - Took part in the International Congress on Human Genetics in Kyoto, Japan
From 2013-2016 - Head of the Medical Genetic Center in Khabarovsk
From 2015-2016 - lecturer at the Department of Biology at the Far Eastern State Medical University
From 2016-2018 - Secretary of the Khabarovsk Branch of the Russian Society of Medical Geneticists
In 2018. - Took part in the seminar "Reproductive potential of Russia: versions and counterversions" Sochi, Russia
Organizer of the school-seminar "The era of genetics and bioinformatics: an interdisciplinary approach in science and practice" - 2013, 2014, 2015, 2016.
Work experience as a geneticist as a consultant - 7 years
Founder of the Tsarina Alexandra Charitable Foundation to help children with genetic pathology alixfond.ru
Sphere of professional interests: myrobiome, multifactorial pathology, pharmacogenetics, nutrigenetics, reproductive genetics, epigenetics.
Head of
"Prenatal diagnosis"
Kievskaya
Yulia Kirillovna
In 2011 she graduated from the Moscow State University of Medicine and Dentistry. A.I. Evdokimova with a degree in General Medicine She studied in residency at the Department of Medical Genetics of the same university with a degree in Genetics
In 2015, she graduated from an internship in the specialty Obstetrics and Gynecology at the Medical Institute for Advanced Medical Studies of the FSBEI HPE "MGUPP"
Since 2013, he has been conducting a consultative reception at the State Budgetary Healthcare Institution "Center for Family Planning and Reproduction" DZM
Since 2017, he has been the head of the Prenatal Diagnostics department of the Genomed laboratory
Speaks regularly at conferences and seminars. Gives lectures for doctors of various specialties in the field of reproduction and prenatal diagnostics
Conducts medical and genetic counseling for pregnant women on prenatal diagnostics in order to prevent the birth of children with congenital malformations, as well as families with presumably hereditary or congenital pathology. Interprets the results of DNA diagnostics.
SPECIALISTS
Latypov
Arthur Shamilevich
Latypov Artur Shamilevich - doctor geneticist of the highest qualification category.
After graduating in 1976 from the medical faculty of the Kazan State Medical Institute, for many years he worked first as a doctor in the office of medical genetics, then as the head of the medical genetic center of the Republican Hospital of Tatarstan, chief specialist of the Ministry of Health of the Republic of Tatarstan, teacher of the departments of Kazan Medical University.
Author of more than 20 scientific papers on problems of reproductive and biochemical genetics, participant in many national and international congresses and conferences on problems of medical genetics. Introduced methods of mass screening of pregnant women and newborns for hereditary diseases into the practical work of the center, carried out thousands of invasive procedures for suspected hereditary diseases of the fetus at different stages of pregnancy.
Since 2012, she has been working at the Department of Medical Genetics with a course of prenatal diagnostics at the Russian Academy of Postgraduate Education.
Research interests - metabolic diseases in children, prenatal diagnostics.
Reception time: Wed 12-15, Sat 10-14Reception of doctors is carried out by appointment.
Doctor-geneticist
Gabelko
Denis Igorevich
In 2009 he graduated from the medical faculty of KSMU named after SV Kurashova (specialty "General Medicine").
Internship at the St. Petersburg Medical Academy of Postgraduate Education of the Federal Agency for Healthcare and Social Development (specialty "Genetics").
Internship in therapy. Primary retraining in the specialty "Ultrasound diagnostics". Since 2016, he has been an employee of the Department of Fundamental Foundations of Clinical Medicine of the Institute of Fundamental Medicine and Biology.
Sphere of professional interests: prenatal diagnostics, the use of modern screening and diagnostic methods to identify the genetic pathology of the fetus. Determination of the risk of recurrence of hereditary diseases in the family.
Participant of scientific and practical conferences on genetics and obstetrics and gynecology.
Work experience 5 years.
Consultation by appointmentReception of doctors is carried out by appointment.
Doctor-geneticist
Grishina
Kristina Alexandrovna
Graduated in 2015 from the Moscow State Medical and Dental University with a degree in General Medicine. In the same year she entered the residency in the specialty 30.08.30 "Genetics" at the Federal State Budgetary Scientific Institution "Medical Genetic Research Center".
She was hired to work at the Laboratory of Molecular Genetics of Difficult Inherited Diseases (headed by A.V. Karpukhin, Doctor of Biological Sciences) in March 2015 as a research laboratory assistant. Since September 2015, she has been transferred to the position of a research assistant. He is the author and co-author of more than 10 articles and abstracts on clinical genetics, oncogenetics and molecular oncology in Russian and foreign journals. Regular participant of conferences on medical genetics.
Field of scientific and practical interests: medical and genetic counseling of patients with hereditary syndromic and multifactorial pathology.
A consultation with a geneticist allows you to answer the questions:
whether the child's symptoms are signs of a hereditary disorder
what research is needed to identify the cause
determining an accurate forecast
recommendations for the conduct and assessment of the results of prenatal diagnostics
everything you need to know when planning a family
IVF planning consultation
on-site and online consultations
Doctor-geneticist
Gorgisheli
Ketevan Vazhaevna
She is a graduate of the Faculty of Medicine and Biology of the Russian National Research Medical University named after N.I. Pirogov in 2015, defended her thesis on the topic "Clinical and morphological correlation of vital indicators of the state of the body and morphofunctional characteristics of blood mononuclear cells in severe poisoning." She graduated from clinical residency with a degree in Genetics at the Department of Molecular and Cellular Genetics of the above-mentioned university.
She took part in the scientific and practical school "Innovative genetic technologies for doctors: application in clinical practice", the conference of the European Society of Human Genetics (ESHG) and other conferences dedicated to human genetics.
Conducts medical and genetic counseling for families with presumably hereditary or congenital pathologies, including monogenic diseases and chromosomal abnormalities, determines indications for laboratory genetic studies, and interprets the results of DNA diagnostics. Consults pregnant women on prenatal diagnostics in order to prevent the birth of children with congenital malformations.
Geneticist, obstetrician-gynecologist, candidate of medical sciences
Kudryavtseva
Elena Vladimirovna
Geneticist, obstetrician-gynecologist, candidate of medical sciences.
Specialist in the field of reproductive counseling and hereditary pathology.
Graduated from the Ural State Medical Academy in 2005.
Residency in Obstetrics and Gynecology
Internship in Genetics
Professional retraining in the specialty "Ultrasound diagnostics"
Activities:
- Infertility and miscarriage Vasilisa Yurievna
She is a graduate of the Nizhny Novgorod State Medical Academy, the Faculty of General Medicine (specialty "General Medicine"). She graduated from the clinical residency at the Moscow State Scientific Center for Genetics. In 2014, she completed an internship at the clinic for mothers and children (IRCCS materno infantile Burlo Garofolo, Trieste, Italy).
Since 2016 he has been working as a consultant physician at Genomed LLC.
Regularly participates in scientific and practical conferences on genetics.
Main areas of activity: Consulting on clinical and laboratory diagnostics of genetic diseases and interpretation of results. Management of patients and their families with presumably hereditary pathology. Consulting in planning pregnancy, as well as in pregnancy on the issues of prenatal diagnosis in order to prevent the birth of children with congenital pathology.
In the period from 2013 to 2014, she worked as a junior researcher at the laboratory of molecular oncology at the Rostov Research Oncological Institute.
In 2013 - advanced training "Current issues of clinical genetics", State Budgetary Educational Institution of Higher Professional Education Growth of the State Medical University of the Ministry of Health of Russia.
In 2014 - advanced training "Application of the real-time PCR method for gene diagnostics of somatic mutations", FBSI "Central Research Institute of Epidemiology of Rospotrebnadzor".
Since 2014 - doctor-geneticist of the laboratory of medical genetics, Rostov State Medical University.
In 2015, she successfully confirmed the qualification "Medical Laboratory Scientist". He is an active member of the Australian Institute of Medical Scientist.
In 2017 - advanced training "Interpretation of the results of genetic research in patients with hereditary diseases", NOChUDPO "Training Center for Continuing Medical and Pharmaceutical Education"; "Topical issues of clinical laboratory diagnostics and laboratory genetics", Federal State Budgetary Educational Institution of Higher Education, Rostov State Medical University, Ministry of Health of Russia; professional development BRCA Liverpool Genetic Counseling Course, Liverpool University.
Regularly participates in scientific conferences, is the author and co-author of more than 20 scientific publications in domestic and foreign publications.
The main area of activity: clinical and laboratory interpretation of the results of DNA diagnostics, chromosomal microarray analysis, NGS.
Sphere of interests: application in clinical practice of the latest genome-wide diagnostic methods, oncogenetics.
The normal course of pregnancy and the excellent health of a young woman are not yet a guarantee of a healthy baby without anomalies. It is important, even in the early stages of pregnancy, to carry out the necessary diagnostic measures to identify or exclude chromosomal pathology. Environmental factors, heredity, maternal condition and other less common reasons can provoke an anomaly of intrauterine development.
What is a chromosomal abnormality? This is the appearance during intrauterine development of an extra chromosome or a violation of its structure. Everyone is familiar with Down syndrome, so this congenital disease is associated with an extra chromosome in 21 pairs. It is possible to identify this pathology even before birth due to the clinical picture, characteristic diagnostic signs, and the nature of the course of pregnancy.
Signs of chromosomal abnormalities during pregnancy
A chromosome abnormality occurs quite often in a child who has been affected by adverse factors during intrauterine development. This applies to the woman's lifestyle, her state of health, the environment.
You can suspect congenital pathologies, including an extra 21 chromosome, by the following signs:
- pulling pains in the lower abdomen during the entire period of pregnancy, the threat of miscarriage;
- decreased fetal activity, increased fetal kidney at 20-21-22 weeks;
- underdevelopment of the tubular bones of the fetus;
- underdevelopment of the placenta, fetal hypoxia;
- polyhydramnios or low water.
These concomitant manifestations of pregnancy may indicate an anomaly, but an analysis is needed to confirm, since each of the presented abnormalities of pregnancy may indicate other violations, and in some cases even be the norm. But why does a chromosomal failure occur and is it possible to prevent it?
Causes of chromosomal abnormalities
Late pregnancy is a risk factor
The risk factors for the development of congenital anomalies are too diverse and it is physically impossible to track all the components. This is an environmental factor that cannot be influenced, and problems that arise even in the process of fertilization, when during the joining of 46 chromosomes, an abnormal appearance or disappearance of another chromosome occurs. The process is quite complex, and it is impossible to trace it from the very beginning, that is, from the moment of conception.
The most common pathology is the appearance of an extra 21 chromosome, one of the types of trisomy, when a chromosome has three copies. For example, people with Down syndrome have three copies of chromosome 21.
It often happens that a fetus with a chromosomal abnormality does not survive, an early miscarriage occurs. But those who survive are born with serious physical and mental problems.
Diagnosis of chromosomal abnormalities
Today, it is not a problem to identify an extra 21 chromosome even before birth, as well as other abnormalities. For this purpose, an analysis of the chromosome set is carried out, by taking blood after the birth of a child or by examining the chorion. The cells that were obtained through a biopsy are grown under laboratory conditions, after which they are analyzed for the presence of an extra 21 chromosome or the absence of some of the chromosomes in the set.
Geneticists recommend carrying out this analysis for every woman in order to know for sure the possibility of chromosomal pathology in an unborn child. This analysis can be carried out regardless of the woman's age and gestational age, but the analysis efficiency is high and in 99% it is possible to carry out an accurate analysis of the chromosome set.
The first stage of diagnosis begins with taking the mother's blood in the first trimester of pregnancy, and an ultrasound scan is also performed to visually examine the fetal neck, which has diagnostic value in suspicion of an extra 21 chromosome - Down's syndrome. In the second trimester of pregnancy, the mother's blood is also tested, during this period the greatest risk of a chromosomal abnormality can be determined.
Women who are at risk should undergo an additional analysis - a chorea biopsy is performed to make a diagnosis.
Frequent chromosomal abnormalities
The first place is occupied by trisomy 21 chromosomes - Down's syndrome. This congenital disorder is diagnosed in 1 in 700 babies. Such children lag behind in mental development, have specific external signs, characteristic facial features and are more susceptible to systemic diseases than healthy children.
Children with Down syndrome have limited intellectual potential, but at the present stage, activities are being carried out aimed at the socialization of such children, they can further study and engage in activities that do not require serious physical and intellectual needs. Previously, the intervention of psychologists, psychotherapists and other specialists makes it possible to improve the prognosis of the development of children with an extra 21 chromosome, they begin to write, read and take an active part in collective activities.
The risk of having a child with a chromosomal abnormality increases in proportion to the mother's age. Thus, women under 25 give birth to a child with a chromosomal disorder 1 in 15,000, and women after 45 years - 1 in 40. The difference is significant, and therefore the main risk group is older age.
The second most common abnormality is trisomy 13 and 18 chromosomes - these abnormalities are much more serious than Down's syndrome, and very often such children do not survive. If a woman was analyzed and the result showed these abnormalities, the doctor will suggest an abortion at an early stage of pregnancy, since the chances of bearing and giving birth are minimal.
Children born with trisomy 13 - Patau syndrome and trisomy 18 - Edwards syndrome suffer from severe physical and mental disabilities. Each child has a pronounced external developmental defect, and they live no more than a year.
Sex chromosome abnormalities - Turner syndrome, trisomy on the X chromosome, Klinefelter syndrome and disomy on the Y chromosome occur when 23 pairs of chromosomes are abnormal.
Turner syndrome - occurs in 1 in 3,000 girls born. Such girls do not go through the stage of puberty, they do not have a second X chromosome, they are infertile. Such girls stop growing early if hormone therapy is not started from an early age. Adequate hormonal treatment can only partially restore sexual function, but they cannot return the possibility of having a child with any drugs.
Other chromosomal pathologies associated with a violation of 23 pairs of chromosomes occur very rarely, and all those born with this anomaly lack reproductive function.
Rare chromosomal abnormalities
Some chromosomal abnormalities are so rare that their analysis does not show at all or shows, but a completely different violation. These include deletion, inversion, translocation, ring chromosome, and microdeletion. This is a series of chromosomal abnormalities that develop due to diseases on the part of the mother.
Rare chromosomal pathologies can occur against the background of maternal diabetes mellitus, diseases of the endocrine system, smoking and other bad habits. Every woman after 35 years old is tested to determine chromosomal abnormalities, as well as girls under 16 years old. The course of pregnancy, previous infectious diseases, intrauterine infections or toxic effects on the fetus are of great importance.