19:59 29-05-2015 / Ivan / Krasnodar Territory,
Good afternoon. Please help me understand the situation: for a period of 12-13 weeks, my wife underwent amniocentesis. the medical geneticist determined a high risk of developing Down syndrome (1:5) based on PAPP-0.22, hCGb-1.71. According to the results of ultrasound, everything is normal except for the length of the nasal bone - 1.6 mm. On the placenta - pl. circumvallata
In less than 2 weeks, the result of amniocentesis: “AS A RESULT OF THE STUDY, A MOSAIC VARIANT OF CHROMOSOMY 16 TRISOMY IS REVEALED (2 CLONES ARE DETECTED: PATHOLOGICAL-92.8%, NORMAL-7.2%)” i.e. we have 47.XX +16 in 92.3%.
Repeat ultrasound: nasal bone 2.3 mm. (grown up, but still less than the norm) pl. Circumvallata. Otherwise, everything is normal, as before. Recommended cordocentesis at 21 weeks, which we of course agree, but many questions arise:
1) What is the risk of miscarriage if we are talking about the chromosomal pathology of the placenta 47,XX +16?
2) What to do if, according to the results of cordocentesis, we again get mosaic, even in a fraction of a percent?
3) If, according to the results of cordocentesis, everything is fine and a phenotypically healthy child is born, then what is the likelihood of developing any anomalies/diseases in the future?
I would be very grateful for a competent answer. Thank you.
4) Another question: are any other studies needed, for example, karyotyping of parents (although this, of course, will not affect this pregnancy in any way)
23:04 29-05-2015 Elena,Ivan, for a period of 12-13 weeks. amniocentesis is not performed. Your wife apparently had a chorionic villus biopsy. The result obtained speaks, most likely, of placental mosaicism. Trisomy of chromosome 16 causes miscarriage. fruit is viable. Such a high percentage of the extra chromosome 16, 92.7%, indicates that there was a failure in the division of the cells of the placenta, and not the fetus. Otherwise, its development would have stalled. It happens. pl worries me. circumvallata, which can cause placental abruption, fetal hypoxia and pregnancy failure. In this situation, waiting for cordocentesis is unjustified, because. it is carried out at long gestational ages. I advise you to do an expert ultrasound of the fetus 3D + DOPPLER + ECHO KG of the fetus right now in order to assess the development of all its organs and systems, the state of the placenta and blood flow in its vessels, the vessels of the uterus and the fetus, and also check the work of his heart. At 16 full weeks. perform amniocentesis USING THE STANDARD KARYOTYPING METHOD, FISH METHOD for chromosomes 16, 21, 18, 13, X and Y, as well as CHROMOSOME MICROMATRIX ANALYSIS METHOD to check for possible microarrangements of fetal chromosomes invisible under a conventional light microscope. The express method makes it possible to obtain results on the studied chromosomes within 3-5 days. After carrying out all the above studies, it will be possible to draw conclusions.
23:08 29-05-2015 Elena, 01:35 30-05-2015 Ivan,Thank you very much for the answer. Indeed, chorionic villi were studied.
"Number of cores examined: 500
A two-color FISH variant with a chromosome-specific probe for chromosome 16 was used. Set for determination of chromosome 16 POSEIDON Kit, KREATECH.
Distribution of hybridized signals of the studied fetal chromosomes obtained from the chorionic villi of the fetus of the current pregnancy:
Nuc ish 16cen(D16Z2×3 ⌈464⌉/16cen(D16Z2×2)⌈36⌉" (don't know what it is) .
Nothing is written about chromosomes 21, 18, 13, X and Y, as well as the METHOD OF CHROMOSOME MICROMATRIX ANALYSIS, but there are suspicions that they simply did not write in the conclusion. I'll try to find out for sure.
Now we will look for ultrasound with 3D
Thank you.
Ivan, chromosomal microarray analysis was not performed, because a genetic chip is used for it. According to one FISH study, the final diagnosis is not made if the fetal karyotype is examined. Be sure to examine his Karyotype by the standard method to check all his chromosomes. First of all, they had to exclude Down's syndrome in the fetus, because. its probable risk according to the screening study was 1:5. Therefore, the fetal karyotype should still be examined under a microscope by the standard research method. When they saw an extra chromosome 16, they used the FISH method on it. So it will look logical. I am almost 100% sure that there is false mosaicism when the failure occurred in the cells of the placenta, but not the fetus. Otherwise, its development would have stopped, too large a percentage of mosaicism on the 16th chromosome was detected. Therefore, the recommendations above remain valid.
13:24 26-06-2015 Evgenia,Hello! Yesterday I had a chorionbiopsy at 17 weeks. Today they gave the answer: Mos47, xy, +? 22 (10) / 46, xy (4). Mosaic shape of chromosome 22? The case of a limited placenta of another mosaicism is not excluded. Cordocentesis is recommended. I didn't really understand, and the doctor couldn't explain. It turns out that there are more chromosomes and if I do cordocentesis, the number will not change? In this case, the child is definitely not healthy? My husband and I have a daughter, she is healthy, gave birth to her at the age of 35. I am now 43. Is there any chance that this baby will be born healthy? Thank you in advance
15:48 30-07-2015 Maria,Evgenia, mos 47,XY, +?22(10)/46,XY(4) means that there are two clones of cells in the placenta. One clone is represented by four cells with a normal male karyotype (46,XY) and the second clone is pathological, represented by ten cells with trisomy on chromosome 22 (47,XY,+?22). The sign (?) implies that the extra chromosome is possibly chromosome 22. In routine staining, chromosome 22 can be confused with chromosome 21, and vice versa, because they are morphologically similar. One thing can be said, based on the conclusion of a cytogeneticist, that there is a pathological clone with trisomy in the placenta. But this is not yet a verdict. You have been recommended a cordocentesis to rule out Confined placental mosaicism (CPM). In CPM, chromosomal abnormalities (predominantly autosomal trisomies) in a complete or mosaic state are found exclusively in placental tissues and are absent in the embryo. Only by the results of cordocentesis (examination of the umbilical cord blood of the fetus) can one say whether trisomy is present in the fetus itself or mos 47,XY, +? 22(10) / 46,XY(4) is the result of placental mosaicism and the fetus itself is healthy. Predictions can only be given after cordocentesis.
Thank you
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In recent years, another diagnostically valuable method has been used - cordocentesis. To do this, a vein of the umbilical cord (cords) is punctured and a small amount of blood is taken for analysis, and if necessary, medicinal substances are injected into the same vein. Typically, cordocentesis is used in cases where it is necessary to identify chromosomal or hereditary diseases, Rhesus conflict between the fetus and mother, hemolytic disease.
Both of these procedures became possible only thanks to the introduction of ultrasound into medical practice, which allows you to visually track the progress of the manipulation. It is difficult to overestimate the importance and necessity of these diagnostic methods, because with their help it is possible to judge the existing anomalies in individual genes or entire chromosomes, without affecting the integrity of the tissues of the fetus itself.
A simple biochemical study of the amniotic (amniotic) fluid allows you to determine the level of enzymes, hormones and amino acids, on which the growth and development of the fetus largely depends. Cord blood analysis makes it possible to detect such serious intrauterine infections as HIV, rubella, cytomegaly, parvovirus B19 (chronic anemia virus).
Before amniocentesis, the pregnant woman is carefully examined by ultrasound, while paying special attention to the location of the placenta and the volume of amniotic fluid, the number of fetuses, their cardiac activity. After clarifying all the features of the attachment of the placenta in the uterus and the location of the fetus, they proceed directly to the procedure itself. Usually it is carried out without anesthesia, but with a low threshold of pain sensitivity, the introduction of anesthetics into the skin of the abdomen is allowed. The duration of manipulation is no more than 2-3 minutes. According to many women, the procedure is not painful, but causes discomfort, which disappears on its own soon after the examination.
The puncture is made with a special thin needle with a mandrel (a metal wire that prevents air from entering the amnion cavity). The length of the needle is selected individually, depending on the physique of the woman and the location of the amnion in the uterine cavity.
During the entire procedure, ultrasound monitoring is performed so as not to touch the fetus with a needle and not damage the umbilical cord. When the placenta is located on the anterior wall of the uterus, a puncture through it is allowed, however, for a puncture, they always try to choose the thinnest place.
There are no big differences between early and late amniocentesis, but carrying out this manipulation for periods up to 14 weeks requires the doctor to be more careful and move the needle more slowly, because. the fetal membranes are not yet firmly attached to the walls of the uterus.
At the end of the procedure, the amniotic fluid syringe is sent to the laboratory, and the patient is instructed about possible changes in well-being and behavior after amniocentesis. A woman must observe strict bed rest for several days. In this case, you need to pay attention to leakage of amniotic fluid or redness of the puncture site, and slight pain in the puncture area or pulling mild pain in the abdominal cavity is a normal phenomenon, these symptoms will soon disappear on their own. The pregnant woman should be alerted by an increase in temperature or the appearance of heat in the puncture area. All changes must be immediately reported to the gynecologist in order to prevent the development of complications and save the life and health of the fetus.
However, if indicated, amniocentesis may be given early in pregnancy (weeks 7 to 14). In this case, it is possible to puncture (puncture) the amniotic bladder not through the anterior abdominal wall, but along the posterior fornix of the vagina. Such access is sometimes even more preferable, especially when the ovum is located near the entrance to the vagina.
Despite the rather low success rate of early amniocentesis, it is recommended to be performed in cases where there is a very high probability of intrauterine fetal anomalies. In this case, it often becomes necessary to terminate the pregnancy, and the sooner it is carried out, the less psychological and physical trauma the woman will experience.
In early pregnancy, amniocentesis is indicated if one or more of the following conditions are present:
In addition, regardless of the duration of pregnancy, the doctor has the right to prescribe amniocentesis in the following cases:
The main contraindications include:
The reliability of amniocentesis results is very high, approximately 99.5%. The remaining percentage of failures is usually due to the entry of the mother's blood into the puncture material or an insufficient amount of fluid received.
Every woman who decides to conduct this test should be prepared for bad news, because. this analysis is prescribed only in case of serious suspicions from the doctor about possible abnormalities in the development of the fetus. If the results of the study show violations in the development of the fetus, a woman has to make a choice - to keep the pregnancy or to terminate it. The doctor in this situation can and should inform about the possible consequences of this or that decision, but in any case, the woman herself has to make the final decision.
Whether or not to do an amniocentesis is up to the woman to decide on her own. The doctor may recommend this test (in some cases, he may very strongly recommend it), but amniocentesis is not included in the list of mandatory studies. If in the past a woman had cases of giving birth to a child with abnormalities, or in the early stages of pregnancy she took teratogenic and toxic drugs, amniocentesis is especially important. This will avoid the birth of a handicapped child or mentally prepare for the fact that the baby will have malformations.
You should not be afraid of the consequences of this procedure, because. the risks are very minimal, both for the pregnant woman and for the fetus.
Possible side effects of an amniocentesis include:
In the second trimester (up to 20 weeks), amniocentesis remains possible, and conditions for cordocentesis appear. In late pregnancy, cordocentesis is a more informative method, due to the fact that in most cases it is easier to get into the blood from the umbilical cord, the resulting material is cultivated much faster (only 2-3 days), and the probability of false results is much lower.
The possible consequences of both manipulations are the same and do not exceed 1-1.5%.
Determining the sex of the child during amniocentesis is an important part of the study when there is a suspicion of a hereditary disease that is transmitted exclusively through the male line.
To satisfy the mother's personal interest regarding the sex of the unborn child, neither amniocentesis nor cordocentesis is performed.
In Russia and Ukraine, in almost every major city there are medical genetic centers that perform this procedure. In addition, in these cities you can find private institutions that are equipped with everything necessary for amniocentesis and other research methods for the early detection of pathologies in the fetus. The multidisciplinary medical center "Mother and Child" can be attributed to the long-standing and well-established medical centers. In it, a woman can receive qualified medical assistance, consult on all issues of concern, and also pass the necessary laboratory tests.
Olga, Kazan:Irina, Minsk:
"I decided to write my review, perhaps it will help someone make the right decision. At the 20th week of pregnancy, I wanted to know the sex of the unborn child, I had no other reasons for going to the doctor - I felt great, neither you had toxicosis, nor deviations in the tests "I came to ask about one thing, and they told me something completely different. On an ultrasound, the doctor saw anomalies in the structure of the heart and umbilical cord of the fetus. It turns out that these are two indicators indicating Down's syndrome. With a frightened look, I went to see my gynecologist. She told me I was immediately referred to a day hospital for the prevention of placental insufficiency and hypoxia in the fetus.At 21 weeks, after a repeated bleak ultrasound, I was prescribed cordocentesis (amniocentesis was no longer suitable in terms of timing).After the doctor took blood from the umbilical cord of the fetus, she said, that the analyzes will be ready in 5 days, and then there are the holidays, in general, I had to wait for 2 weeks! do crazy. When the geneticists called, I thought my heart would jump out of my chest, the pressure rose from excitement. I went to the doctor for a consultation in a semi-conscious state, if it were not for my husband, I would not have arrived. At the meeting, the doctor said that the chromosome set of the fetus is 46 XY, I did not understand anything and started crying. She began to calm down and say that this means that a HEALTHY boy is growing and developing in my stomach! My husband cried with me. Both of us were then soldered with valerian. The last months of pregnancy, I just enjoyed my condition and constantly talked with my boy, told him stories, sang songs. It is terrible to imagine how I would feel and act if the result was different. Although, over time, I came to the conclusion that cordocentesis, as well as other similar procedures, are very important and necessary. It is better to know what awaits you and your baby than to be in complete ignorance. Such analyzes are needed at least so that a woman can make a decision - is she ready to take on such a responsibility and live with her all her life? Forgive me women who have a different opinion on this matter, but I believe that if the baby is deviant in ALL tests, then you should not doom him (and yourself, probably) to long, lifelong torment. I understand that the question is controversial, and philosophical, so to speak, but I decided for myself that way. I wish all future mothers healthy and happy kids!
Amniocentesis is an amniotic fluid test in which a puncture is made in the fetal membrane and a sample of the amniotic fluid is taken. It contains fetal cells that are suitable for testing for the presence or absence of genetic diseases.
Amniocentesis is convenient and relatively safe. Recommended period for the procedure: the period from 16 to 19 weeks of pregnancy.
Depending on the indications, there are several types of amniotic fluid examination:
When a woman finds out about her pregnancy, she goes to the doctor. During the appointment, the gynecologist collects an anamnesis and prescribes the necessary tests, based on how long the woman visited the specialist.
If during the collection of data or based on the results obtained, the doctor has serious doubts about the health of the fetus and its normal development, he may suggest that the expectant mother undergo an amniocentesis procedure. A number of factors could be the basis for such a proposal:
The main contraindication for such a procedure is the threat of miscarriage. There are other reasons why you should not carry out the procedure:
Other circumstances may interfere with the analysis, for example, poor blood clotting in a woman, anomalies in the development of the uterus, the location of the placenta on the anterior wall of the uterus. Although in the latter case, it is still possible to carry out the procedure, provided that the placental tissue at the puncture site is as thin as possible.
A woman can refuse the procedure of her own free will if she fears complications, but in this case she must be aware of the consequences of this decision.
Amniocentesis is an invasive method for examining amniotic fluid, which requires penetration into the uterine cavity. There are two ways to carry out this procedure.
In this case, the procedure is carried out under the control of ultrasound diagnostics. The area of insertion of the puncture needle is specified using an ultrasound probe. In order to avoid the risks of possible complications and the threat of termination of pregnancy, the place for inserting the needle is chosen where there is no placenta or, if this is not possible, where the wall of the placenta is as thin as possible.
This method differs from the first one in that the puncture needle is fixed to the ultrasound sensor and a trajectory is drawn along which the needle will go if it is started to be inserted in one place or another. A particular advantage of this method lies in the possibility of visual visibility of the needle and its intended trajectory throughout the entire procedure. It is worth noting that this method requires certain skills and experience from the surgeon.
One of the most frequently asked questions that patients ask is how long the amniocentesis procedure takes and how painful it is.
The analysis will not take long. The procedure itself, including preparation, lasts a total of about 5 minutes. Puncture with a puncture needle is carried out in less than 1 minute. Next comes the sampling of amniotic fluid. For another 2 hours, the patient is under the supervision of a doctor in the ward, where she rests and recuperates.
With amniocentesis, there is no strong pain, it resembles an ordinary injection. When taking amniotic fluid directly, a woman may experience slight pressure in the lower abdomen. A pregnant woman, driven by a sense of fear, may ask for pain relief. It can be applied topically, but more than once it has been observed that an injection of painkiller causes much more discomfort than the puncture itself during amniocentesis, so doctors advise not to do anesthesia. Many women agree that it is better to have one injection instead of two.
Before the procedure, women are often very worried and try to find any additional information about the study, including on the Internet. In this case, it is better to use specialized medical resources, rather than forums where not professionals but housewives communicate and give advice. In fact, you just need to follow the doctor's instructions and follow his recommendations exactly.
The necessary examination will be prescribed by the doctor. First, you will need to pass tests and do an ultrasound. This step will reveal hidden infections, confirm or refute multiple pregnancy, determine the viability of the fetus, learn about the condition and amount of amniotic fluid, and clarify the gestational age.
Approximately 4-5 days before the procedure, it is recommended to exclude the use of acetylsalicylic acid and its analogues, and 12-24 hours before the procedure, stop taking anticoagulants (low molecular weight heparins), since these drugs reduce blood clotting, which increases the risk of bleeding during invasive diagnostics.
Information about the possible risks can be obtained from the doctor, after which you will need to sign a consent to the invasive intervention.
On the appointed day, the pregnant woman comes for an amniocentesis, the terms of which are discussed in advance. The analysis takes place in a special separate room in compliance with all sanitary norms and rules. The expectant mother lies down on the couch, the doctor applies a sterile gel for ultrasound diagnostics on her stomach and uses ultrasound to check the location of the fetus and placenta. Further, the entire procedure will take place only under the control of ultrasound diagnostic sensors.
Guided by ultrasound, the doctor carefully inserts a hollow needle through the abdomen into the amniotic cavity and draws out 20 ml of amniotic fluid containing fetal cells (approximately four teaspoons), which will be examined in the laboratory. If the first time it was not possible to get the right amount of liquid, then the puncture is performed again.
When the procedure is done, an ultrasound is done again to make sure the fetal heartbeat remains normal.
If necessary, conservative and maintenance therapy is carried out. In order to better understand the technique of the procedure, you can watch a video where all the actions of a doctor are shown step by step.
Hospitalization after the amniocentesis procedure is not required, but bed rest is recommended for the next 24 hours and, if the woman is working, a sick leave for seven days is recommended.
In order to study this technique with maximum accuracy and clarity, you can watch a video that shows the procedure itself step by step.
Performing an amniocentesis
What to do after an amniocentesis
After the procedure, the woman is given a number of recommendations.
However, consulting with non-specialists, you risk receiving false information. The safest thing to do is to contact your doctor, consult with him and find out if this procedure is right for you, if you have indications for invasive diagnostics and, specifically, amniocentesis. This method helps to learn about more than 200 types of abnormalities that have arisen due to genetic mutations.
There are few contraindications for amniocentesis, and they are all dictated by safety considerations to preserve pregnancy and the health of the fetus. The main contraindications include:
Based on the results of the study, we can assume the possibility of developing a number of defects, including those incompatible with life. If no abnormalities are found, the result of the amniocentesis can reassure the woman and show that the child will not have serious disorders and is ready for a full life.
Violations detected by the procedure
Amniocentesis does not detect all congenital abnormalities, but it can detect a number of serious chromosomal abnormalities and genetic diseases.
Chromosomal diseases that are detected by amniocentesis with an accuracy of more than 99% include:
After the amniocentesis is performed and the material for the study is obtained, it is analyzed using one of these methods:
1. Analysis of the karyotype of fetal cells (cytogenetic analysis)
This is a cytogenetic study, through which sets of human chromosomes (the so-called karyotype) are studied. The specialist makes a map of chromosomes, arranging them in pairs. The technique allows you to identify changes in the number of chromosomes, their structure, violations of the order of chromosomes (deletions, duplications, inversions, translocations) and diagnose certain chromosomal diseases.
Karyotyping can detect abnormalities such as Down, Patau, Turner, Edwards, and Klinefelter syndromes, as well as X-chromosome polysomy.
Unfortunately, karyotyping detects only aneuploidies (numerical chromosome abnormalities) and fairly large structural anomalies, missing microdeletion and microduplication abnormalities that cause a wide range of other diseases. In this analysis, there is approximately a 1% chance of detecting isolated placental mosaicism. This is a rare deviation in which some of the cells of the placenta have a normal chromosome set, while other cells have an abnormal structure. The fetal karyotype itself is normal. There is also a risk of diagnostic errors due to the subjectivity and professionalism of the specialist.
Standard karyotyping requires additional time to bring the resulting cells to the desired state. The duration of cell culture, as a rule, is 72 hours, and only after that it is possible to carry out their analysis.
2. Chromosomal microarray analysis (CMA)
This method will be available after any of the options for invasive diagnostics. The study involves the processing of the material by computer programs, due to which it is possible not only to determine the chromosomal set of the fetus, but also to diagnose those disorders that are not determined by karyotyping. CMA is able to detect 1000 times smaller chromosome breakdowns than classical cytogenetic analysis. Another significant advantage of HMA is the quick receipt of the result (about four working days).
CMA can diagnose all known microdeletion syndromes and some syndromes associated with autosomal dominant diseases. When performing the study, pathogenic deletions (disappearance of chromosome sections), duplications (appearance of additional copies of genetic material), areas with loss of heterozygosity, which are important in imprinting diseases, closely related marriages, autosomal recessive diseases, can be detected.
Among prenatal invasive tests, microarray has the highest information content and accuracy (over 99%).
Despite all the advantages of CMA, there is another segment of diseases that this analysis, like karyotyping, cannot detect. These are monogenic pathologies, the study for the presence of which is carried out only if there are special indications. With these diseases, the chromosomal set in the fetus is completely normal, but it has a mutation of a particular gene responsible for the development of the disease. Monogenic diseases include:
Diagnosis for monogenic diseases is carried out only if it is known what specific disease the child has a risk of and what mutation to look for. There may be a known disease in the family of the unborn child, or when planning a pregnancy, screening for hereditary diseases is carried out, with the help of which it is revealed which mutations the future parents are carriers of, and, therefore, what genetic diseases the child may have.
In rare cases, amniotic fluid analysis is performed to assess the intrauterine condition of the fetus and for other parameters, in addition to the presence of a genetic pathology.
Biochemical analysis is carried out if hemolytic disease of the fetus is suspected in Rh-conflict pregnancy, to diagnose possible congenital diseases, as well as to assess the maturity of the fetus. Through the amniotic fluid can be analyzed:
AFP (alpha-fetoprotein) is a protein that is formed during the development of the fetus. Its amount in the amniotic fluid varies depending on the duration of pregnancy. Exceeding the standard values occurs with malformations of the nervous system of the fetus, with the threat of intrauterine death of the fetus, with some congenital kidney diseases. A decrease in the concentration of alpha-fetoprotein in the amniotic fluid can be recorded in Down syndrome, if the pregnant woman has diabetes mellitus.
Bilirubin is a substance that is formed in the human body during the destruction of red blood cells. Elevated bilirubin can negatively affect the health of the unborn child, and can also indicate various diseases. For example, cholecystitis, viral hepatitis, hemolytic anemia, etc. With hemolytic anemia, if it is not cured prematurely, there may be a risk of premature birth or stillbirth.
Glucose- carbohydrate, which is the most important component of metabolism in the human body. Normally, the concentration of glucose in the amniotic fluid is less than 2.3 mmol / l. An increase in its amount indicates a pathology of the fetal pancreas, as well as a possible risk of developing severe hemolytic disease in a child. A decrease in glucose concentration is noted with intrauterine infection and in patients with leakage of amniotic fluid, as well as with prolonged pregnancy.
Immunological analysis
Among the indicators characterizing the state of the body's immune defense, pro-inflammatory cytokines, which play the role of mediators of immune responses, are of great importance. Analysis of the content of cytokines in the amniotic fluid is of great diagnostic value. The cytokine system includes interferons (IFN), tumor necrosis factor (TNF) and interleukins (IL). These are low molecular weight glycoproteins that regulate the duration and strength of immune responses, as well as inflammatory responses.
Hormonal analysis
In recent years, the study of amniotic fluid hormones has increasingly become the subject of scientific research, which provides information on the degree of maturity and development of the fetus, and is also of practical importance for resolving the issue of the timing of labor induction in pregnant women, a risk group for developing intrauterine infections.
Thus, the functional state of the placenta is determined, in particular, by the synthesis of chorionic gonadotropin (hCG) and placental lactogen in it. Of all the hormones involved in changing the endocrine balance of the body and largely determining the course of pregnancy and childbirth, the greatest importance should be given to the content of cortisol, estradiol, estriol, progesterone and placental lactogen in the amniotic fluid during pregnancy and childbirth.
Any woman can easily find a large amount of information about the procedure by reading reviews on websites, getting a consultation from a gynecologist, or simply listening to the reviews of friends. But the opinion of a specialist should be decisive. If your doctor's advice is in doubt, contact others, you may be offered alternative methods of diagnosis and treatment.
According to statistics, 1 in 1,000 women miscarry after an amniocentesis. Moreover, the greatest degree of danger is observed in the first trimester of pregnancy. There is also an unlikely chance of developing a uterine infection. The risks include the possibility of infecting a child if the expectant mother is HIV-infected.
Possible complications after amniocentesis:
If these symptoms appear, you should immediately call an ambulance team or go to the doctor yourself.
The most serious consequences include:
Placental abruption. Premature placental abruption is a serious and dangerous phenomenon and is fraught with bleeding and fetal death. The task of doctors is to ensure the maximum conditions for maintaining pregnancy. Repeated surgical intervention in the uterine cavity can lead to such a complication.
Alloimmune cytopenia in the fetus. Occurs as a result of Rh-conflict pregnancy, if immunoglobulin has not been administered.
Miscarriage. Early pregnancy and amniocentesis can give such a consequence. But in modern medicine, such a complication is minimized. Before agreeing to the procedure, you need to make sure that the degree of its necessity is much higher than the likelihood of possible risks.
The essence and features of amniocentesis have been described in detail above, but there are other methods of invasive diagnosis of abnormalities in the fetus.
Depending on the type of study, the timing of obtaining the result of amniocentesis may vary. If a cytogenetic study of fetal cells was carried out, then it will be possible to go for a long-awaited discharge only after 2-3 weeks. An alternative here can be a chromosomal microarray analysis, the results of which are provided within four working days.
First of all, after receiving the result, you should immediately go to your doctor. Only a specialist will be able to correctly interpret the results of the analysis and give the necessary explanations. In case of a negative result, when the presence of a chromosomal abnormality or a genetic disease has not been confirmed, you just need to continue to enjoy your pregnancy and prepare for the arrival of a child.
If the test turned out to be positive, you need to get as much information as possible about the disease that has been identified. You should understand all the responsibility and make the right and balanced decision together with your spouse. If it is given with great difficulty, you can consult another doctor, visit a geneticist, if necessary, perform cordocentesis. In any case, the decision on the issue of prolonging the pregnancy always remains with the spouses, the doctor should only inform the spouses about the prognosis for the unborn child.
If we analyze the communication of women in various forums, then most often they ask the following questions:
Does it mean that the child will be completely healthy with a negative amniocentesis result?
Answer: Analysis of amniotic fluid reveals only genetic diseases and far from their full spectrum. In addition to genetic, there are also congenital malformations (anomalies in the development of organs), in which the chromosome set will be normal. and in this case, another diagnosis is required.
Can defects detected during amniocentesis be cured?
Answer: Many diseases are treated after childbirth, but there are those that can be treated already in utero. Knowing about the condition of the child in advance, you can prepare for his birth more carefully, taking into account all his needs.
Is the conclusion of the amniocentesis final?
Answer: Although amniocentesis is quite accurate in identifying some genetic disorders, it cannot recognize all congenital anatomical defects and mental disorders in an unborn child. For example, it cannot determine heart disease, cleft lip, autism, etc. A normal amniocentesis result provides confidence in the absence of some congenital disorders, but does not guarantee that the child will not have any diseases at all.
Is it possible to replace amniocentesis with non-invasive diagnostic methods?
Answer: Yes, new methods for studying fetal DNA make it possible to assess the possible risks of chromosomal pathology without resorting to surgical intervention. For example, the Panorama non-invasive DNA test, which detects the most common chromosomal abnormalities with an accuracy of over 99%.
How dangerous is this procedure?
Answer: In general, the amniocentesis procedure is quite safe for both the mother and the baby. However, there is a small risk of complications. It depends on the duration of pregnancy and does not exceed 1%. The frequency of infectious complications is about 0.1%, and preterm birth - 0.2-0.4%.
It is very important to remember that on various forums and websites, answers to questions can contradict each other and be completely wrong, and sometimes even dangerous. That is why we recommend discussing all points of interest directly with your doctor.
According to order No. 457 of December 28, 2000 of the Ministry of Health of the Russian Federation “On improving prenatal diagnosis in the prevention of hereditary and congenital diseases in children”, invasive interventions are carried out with the consent of the pregnant woman under ultrasound control and subject to a mandatory gynecological examination of the pregnant woman.
In case of unfavorable prognosis according to the anamnesis and poor test results, the doctor is obliged to refer the woman for invasive diagnostics, tell about the course of such manipulation, possible risks and complications, and the decision on whether to resort to this procedure, she will make on her own, based on her internal sensations.
If a woman has already had cases of the birth of a child with genetic pathologies, then it would be better to perform an amniocentesis, or use another method of invasive diagnostics to avoid a recurrence of a similar situation, or (if the presence of the disease is confirmed and the woman refuses to terminate the pregnancy), mentally prepare already at the stage pregnancy.
You should not do this medical analysis based on your own whims or ordinary curiosity: is everything okay with the child? This manipulation can be carried out only for serious reasons and as directed by a doctor. If a woman wants to make sure that everything is fine with the baby, she can resort to the help of NIPT (non-invasive prenatal test), which will require only blood sampling from a vein and will carry absolutely no danger to the mother and unborn child.
It is also important to think about your actions before getting the result. If a woman is not ready to raise a child with a genetic disease, then it is better to carry out the procedure as soon as possible, because the shorter the gestational age at the time of termination, the less threats to the woman's health. Although, according to the order of the Ministry of Health of the Russian Federation, abortion for medical reasons is carried out at any stage of pregnancy (see order No. 572n). If the expectant mother is ready for the birth of a baby with a pathology, early diagnosis, again, will be a big plus. Some diseases are amenable to intrauterine treatment, and the sooner it is carried out, the greater the child's chances of recovery.
Irina's story: at the time of the second pregnancy, I was 35 years old and, unfortunately, markers of a genetic disease of the fetus were detected on ultrasound. The doctor strongly recommended an amniocentesis. Yes, I, like everyone else, was afraid: both a possible miscarriage and the results. But for myself, I decided to go and have this procedure done so that the rest of the pregnancy can either walk calmly or decide to terminate it, since I consider it inhumane to give birth to a person doomed to suffering. Yes, and the sex of the child according to amniocentesis is determined by 100%. The procedure is not very pleasant, but you can survive. According to the results, it turned out that everything is fine. The hardest part is the waiting time for tests, but then complete calm and relaxation. It is a pity that at that time I did not know anything about the Panorama DNA test, which my friend recently passed. I would rather spend money on a painless procedure than worry about the possible risks of an amniocentesis.
At the moment, there are ways of non-invasive research methods.
With the help of ultrasound in the first trimester, it is possible to measure the thickness of the nuchal zone of the fetus and, based on the results obtained, determine the risk of having a chromosomal disease. A specific pregnancy protein (PAPP test) is also checked. Further, according to the plan, the second and third ultrasound examinations are carried out.
However, in this case, it is impossible to declare with 100% certainty the absence or presence of a genetic disease in the fetus. Based on the results of ultrasound and biochemical screening, a diagnosis cannot be made, only the risk of a chromosomal abnormality (CA) can be established, and invasive diagnostics, such as the amniocentesis procedure we have described, are needed to confirm the diagnosis and more accurate data.
There are other ways to determine the possibility of a future baby developing physical abnormalities. One of them is . This is a completely safe procedure that allows you to get results from the 9th week of pregnancy - this is another advantage of this method over invasive methods.
The sampling process is very simple: all it takes is blood from the expectant mother's vein, so there is absolutely no risk to her or the fetus. Panorama test technology allows you to diagnose a mixture of mother and child DNA. Using this method, specialists obtain the most accurate results regarding the risk of trisomy (Down syndrome, Turner syndrome, Patau syndrome, Edwards syndrome) and other possible aneuploidies.
Panorama makes it possible to obtain the most accurate clinical data without undergoing painful procedures. This test is able to diagnose a large number of diseases, pathologies and disorders that can affect the health of the child. Moreover, Panorama can detect damage to individual sections of chromosomes.
The Panorama test may be performed when biochemical screening results are unsatisfactory in order to verify the absence of genetic abnormalities or to confirm them. Also, the expectant mother can take the test without special indications - just to make sure that the fetus is developing normally and spend the rest of the pregnancy without too much worry.
The Panorama test is not suitable for women who are carrying twins, but they can be offered the non-invasive Ariosa test.
Unfortunately, the results of ultrasound, which alarm the doctor, are a relative contraindication to the use of the Panorama test. In this case, most likely, you will have to resort to invasive diagnostic methods. The test is not suitable for women who have undergone a bone marrow transplant. It is also indicative in the case of surrogate motherhood or the use of a donor egg for conception.
Unfortunately, today there is no non-invasive diagnostics to determine the presence of monogenic diseases.
In general, the reviews of doctors and patients about this type of diagnosis are positive. Although relatively new, this method is rapidly gaining popularity and, more importantly, credibility.
(Yes, yes, can you imagine? It happens! Chromosomal mosaicism, placental mosaicism) It was decided to wait for a period of 20 weeks for a repeated invasive procedure.
It's called cordocentesis. There is also an amniocentesis, in which the amniotic fluid in which the fetus floats is taken. It was inappropriate in my case, since the version of mosaicism could be confirmed, as happened with my villus biopsy.
During cordocentesis, the blood of the embryo is taken, that is, it cannot contain the mother's genetic material, which leads to errors.
It was very difficult to wait for the procedure. The child began to move, and every time at the same time (and indeed all this time) I was in complete horror.
Yes, even when the first bad blood screening came, the first thing I did was call the laboratory that does the DOT test. It costs from 30 thousand in 2017, but after it you still need confirmation with an invasive procedure! That is, a bad pillbox (and they do it for 10 days) will not be an indication for interruption! Therefore, it is better to do it when everything is good for complacency. And if there are problems, you will only lose time, and it will no longer be possible to have an abortion if necessary, the deadlines will come out. And artificial childbirth is much worse.
So. Cordocentesis again required a large syringe. And I bought them with a margin for the first time) here is hysterical laughter, for those who do not understand)
On ultrasound, a fairly grown child was clearly visible. And to get into the umbilical cord, the doctor had to command what positions I should take. As a result, we did dodge as it should, and after about five minutes of driving the needle there, we managed to get the blood of the embryo.
Before the procedure, I read about all the options for deviations and wanted to do tests in Genomed. Their laboratory does microarray analysis, which determines not only chromosomal pathologies, but also defects in genes! And this is a bunch of all sorts of diseases can be excluded. I also wanted to check for bacterial and viral damage. Nothing happened. The doctor said that it was impossible to take so much blood from the embryo. Only for one thing. Otherwise, these 200 grams of happiness may suffer. In addition, the centralized Genomed with its sample shipments is again a waste of time.
The cordocentesis needle was thin. Compared to a villus biopsy, it is much easier, just heaven and earth. Regarding the possible interruption - it all depends on the doctors. Somewhere they do amnio well, somewhere they got the hang of cordo. Well, it’s understandable, you need a practitioner with a weekly hand full. I'm lucky.
And even more lucky with the result in eight days. When I no longer hoped.
Yes, even before the invasive procedures, I was prescribed noshpa in candles and vitamin E. And after that too. I did everything.
The procedure is not so bad, because the main thing is not this, but that everything is fixable with the baby. We are ready to endure.
I wish you good luck and health!
Prenatal (in other words, prenatal) diagnostics is one of the youngest and most rapidly developing areas of modern reproductive medicine. Representing the process of detecting or excluding various diseases in the fetus located in the uterus, prenatal diagnosis and genetic counseling based on its results answer vital questions for every future parent. Is the fetus sick or not? How can the detected disease affect the quality of life of the unborn child? Is it possible to effectively treat the disease after the birth of a baby? These answers allow the family to consciously and timely resolve the issue of the future fate of pregnancy - and thereby alleviate the mental trauma caused by the birth of a baby with an incurable, disabling pathology.
Modern prenatal diagnosis uses a variety of technologies. All of them have different capabilities and degrees of reliability. Some of these technologies - ultrasound screening (dynamic observation) of fetal development and screening of maternal serum factors are considered non-invasive
or minimally invasive
- i.e. do not provide for surgical intervention in the uterine cavity. Practically safe for the fetus, these diagnostic procedures are recommended for all expectant mothers without exception. Other technologies (chorionic biopsy or amniocentesis, for example) are invasive
- i.e. suggest a surgical invasion of the uterine cavity in order to take the fetal material for subsequent laboratory testing. It is clear that invasive procedures are not safe for the fetus and therefore are practiced only in special cases. Within the framework of one article, it is impossible to analyze in detail all the situations in which a family may need invasive diagnostic procedures - the manifestations of hereditary and congenital diseases known to modern medicine are too diverse. However, a general recommendation to all families planning the birth of a child can still be given: be sure to visit a medical genetic consultation (preferably even before pregnancy) and in no case ignore ultrasound and serum screening. This will make it possible to timely resolve the issue of the need (and justification) for an invasive study. With the main characteristics of various methods prenatal diagnosis can be found in the tables below.
The vast majority of the methods listed below prenatal diagnosis congenital and hereditary diseases today is widely practiced in Russia. Ultrasound screening of pregnant women is carried out in antenatal clinics or medical genetic services. In the same place (in a number of cities), screening of maternal serum factors (the so-called "triple test") can also be done. Invasive procedures are carried out mainly in large obstetric centers or interregional (regional) medical genetic consultations. Perhaps in the very near future all these types of diagnostic assistance in Russia will be concentrated in special centers prenatal diagnosis. At least, this is how the Ministry of Health of the Russian Federation sees the solution to the problem.
Well, as they say, wait and see. In the meantime, it would not hurt for all residents of cities and villages of the fatherland planning to replenish the family to ask in advance what opportunities in the region prenatal diagnosis has local medicine. And if these opportunities are insufficient, and the need for quality prenatal diagnosis objectively available, you should immediately focus on the examination of the expectant mother outside the native locality. Moreover, part of the financial costs in this case may well be borne by the very local health care, in the arsenal of which there is no type of diagnostic service necessary for the family.
| INVASIVE METHODS OF PRENATAL DIAGNOSIS | |||||||
| Method name | Terms of pregnancy | Indications for carrying out | Object of study | Methodology | Method capabilities | Advantages of the method | |
| Chorionic biopsy | 10-11 weeks. |
High probability of hereditary diseases (the probability of detecting a serious illness in the fetus, comparable to the risk of miscarriage after a biopsy). | Chorionic cells (outer germinal membrane). | 1 way. A small amount of chorionic tissue is aspirated with a syringe through a catheter inserted into the cervical canal. 2 way. A tissue sample is aspirated into a syringe using a long needle inserted into the uterine cavity through the abdominal wall. Both options for chorion biopsy are performed on an outpatient basis or with a short-term hospitalization of a pregnant woman. Manipulation is performed under ultrasound control. Depending on the practice adopted in a particular medical institution, a biopsy is performed either under local or general anesthesia (anesthesia). Before the procedure, a woman needs to undergo a laboratory examination (blood tests, smears, etc.). |
Determination of Down syndrome in the fetus, Edwards syndrome, Patau syndrome and other chromosomal diseases accompanied by gross deformities or mental retardation. Diagnosis of genetic diseases (the range of diagnosed hereditary diseases depends on the capabilities of a particular laboratory and can vary from single genetic syndromes to dozens of different disabling diseases). Determining the sex of the fetus. Establishment of biological relationship (paternity). |
Quick results (within 3-4 days after sampling). It is possible to diagnose a severe disabling disease in a fetus in the period up to the 12th week, when abortion occurs with fewer complications for a woman, and the stress load on family members also decreases. |
For a number of technical reasons, it is not always possible to conduct a qualitative analysis of tissue samples. There is a slight risk of false positive and false negative results due to the phenomenon of the so-called. "placental mosaicism" (non-identity of the genome of chorion and embryo cells). Risk of accidental damage to the amniotic sac. The risk of adverse effects on the course of pregnancy in Rh-conflict. Risk of miscarriage (from 2 to 6% depending on the condition of the woman). Risk of fetal infection (1-2%). The risk of bleeding in a woman (1-2%). Risk (less than 1%) of some abnormalities in the development of the fetus: cases of gross deformities of the limbs in newborns who underwent chorionic biopsy have been described. In general, the risk of complications from chorionic biopsy is low (less than 2%). |
| Placentocentesis (late chorion biopsy) | II trimester of pregnancy. | Similar indications for a chorionic biopsy. | Cells of the placenta. | Similar to the method of the 2nd method of chorion biopsy described above. It is performed under local or general anesthesia, on an outpatient basis or with a short-term hospitalization of a woman. The requirements for examining a pregnant woman before placentocentesis are identical to those for a chorionic biopsy. |
Similar to the possibilities of chorion biopsy. | Cultivation of cells obtained during placentocentesis may be less effective than cultivation of chorion cells, so sometimes (very rarely) there is a need to repeat the procedure. This risk is absent in laboratories practicing modern methods of cytogenetic diagnostics. Conducting an examination at a sufficiently long gestational age (in case of detection of a serious pathology, termination of pregnancy during this period requires long-term hospitalization and is fraught with complications). |
|
| Amniocentesis | 15-16 weeks. |
Same as chorion biopsy and placentocentesis. Suspicion of the presence of certain congenital diseases and pathological conditions in the fetus. |
Amniotic fluid and fetal cells in it (desquamated fetal skin cells, epitheliocytes from the urinary tract, etc.). | Amniotic fluid is drawn into the syringe with a needle inserted into the uterine cavity through the abdominal wall. Manipulation is performed under the control of an ultrasound machine, on an outpatient basis or with short-term hospitalization. Local anesthesia is most often used, but it is quite possible to carry out the procedure under general anesthesia. Before the procedure, a pregnant woman undergoes a laboratory examination similar to that of a chorionic biopsy and placentocentesis. | Diagnosis of various chromosomal and gene diseases. Determination of the degree of maturity of the lungs of the fetus. Determination of the degree of oxygen starvation of the fetus. Determining the severity of the Rhesus conflict between mother and fetus. Diagnosis of some fetal malformations (for example, gross deformities of the brain and spinal cord anencephaly, exencephaly, spinal hernia, etc.). |
Wider (in comparison with chorionic biopsy and other invasive methods of prenatal diagnosis) range of detected pathologies. The risk of miscarriage is somewhat less than with a chorionic biopsy. This risk is only 0.5-1% higher than in pregnant women who did not undergo invasive examinations at all. |
Technological problems. Since there are very few fetal cells in the collected sample, it is necessary to give them the opportunity to multiply in artificial conditions. This requires special nutrient media, a certain temperature, reagents, sophisticated equipment. Quite a long time (from 2 to 6 weeks) for the analysis of chromosomes. Results are obtained on average by 20-22 weeks. When the diagnosis is confirmed, termination of pregnancy at this time is accompanied by a large number of complications than, for example, at the 12th week. Stronger and moral trauma of family members 1 . Prolonged exposure of the fetus to ultrasound, the harmlessness of which has not been proven. The risk of having a small baby is slightly increased. There is a low (less than 1%) risk of respiratory distress in the newborn. |
| Cordocentesis | After the 18th week of pregnancy. | Similar to those for chorionic biopsy and placentocentesis. | Fetal cord blood. | A fetal blood sample is obtained from the umbilical cord vein, which is punctured under ultrasound control with a needle inserted into the uterine cavity through a puncture in the anterior abdominal wall of the woman. The procedure is performed under local or general anesthesia, on an outpatient basis or with a short-term hospitalization of a woman. The requirements for examining a woman before cordocentesis are identical to those for a chorionic biopsy. | Similar to the possibilities of chorionic biopsy and placentocentesis, partially amniocentesis. Possibility of medical manipulations (administration of medicines, etc.). |
Minimal chance of complications. | Conducting a survey at a long gestational age (in case of detection of a serious pathology, termination of pregnancy during this period requires a long hospitalization and is fraught with complications). |
| NON-INVASIVE METHODS OF PRENATAL DIAGNOSIS | |||||||
| Method name | Terms of pregnancy | Indications for carrying out | Object of study | Methodology | Method capabilities | Advantages of the method | Disadvantages of the method, risk during the procedure |
| Screening for maternal serum factors | The gap between 15 and 20 weeks of pregnancy. In some cases, an earlier analysis is possible, but after 20 weeks the diagnostic value of the method is low. | Venous blood of a pregnant woman. | Blood serum is examined for the content of three substances: alpha-fetoprotein (AFP); human chorionic gonadotropin (hg); unconjugated estriol (NE). Sometimes the "triple test" is supplemented by a study of the level of neutrophilic alkaline phosphatase (NSHF). |
Diagnostics 2
: Down syndrome; some deformities of the brain or spinal cord (anencephaly, craniocerebral or spinal hernia) and a number of other severe malformations in the fetus. |
Sufficiently high efficiency: 70% of all cases of Down syndrome and neural tube closure defects can be detected at 15-22 weeks of gestation. With additional research NSHF detection of fetuses with Down syndrome reaches 80%. This makes it possible, when the family makes an appropriate decision, to terminate the pregnancy without any special complications for the woman's body. The risk of complications for the fetus is negligible. |
The results of the tests are influenced by various factors - multiple pregnancy, characteristics of the female body, obstetric problems, etc. The result of this can often be false negative or false positive results of the study. In all suspicious cases, a clarifying examination of ultrasound scanning, amniocentesis, placentocentesis or cordocentesis is prescribed. | |
| Ultrasound (US) screening of the fetus, membranes and placenta | Standard obstetric ultrasound screening for fetal malformations is carried out in two stages: at 11-13 weeks of gestation and 22-25 weeks of gestation. | Shown to all pregnant women. | fetus and placenta | 1 way. A sensor (transducer) is placed on the surface of the woman's abdomen, which emits high-frequency sound waves. Reflected from the tissues of the fetus, these waves are again captured by the sensor. Computer processing of the waves generates a sonogram - an image on the monitor screen, which is evaluated by a specialist. 2 way(used more often in the early stages). A specially designed transducer, protected by a latex condom, is inserted into the woman's vagina. |
Diagnosis of dozens of varieties of congenital malformations in the fetus (malformations of the brain and spinal cord, heart, kidneys, liver, intestines, limbs, facial structures, etc.). Early (before 12 weeks of pregnancy) detection of specific signs of Down syndrome in the fetus. Also, clarification: nature of pregnancy (uterine/ectopic); the number of fetuses in the uterus; the age of the fetus (gestational age); the presence of a lag in the development of the fetus; position of the fetus in the uterus (head or breech presentation); the nature of the fetal heartbeat; sex of the fetus; location and condition of the placenta; state of amniotic fluid; violations of blood flow in the vessels of the placenta; tone of the uterine muscles (diagnosis of the threat of termination of pregnancy). |
The potential harmful effects of ultrasound scanning on the fetal body are much less than the harmful effects of x-rays (a WHO expert group has officially recognized the safety of quadruple fetal ultrasound during pregnancy). | Technical limitations and relative subjectivity in the interpretation of scan results. The diagnostic value of ultrasound screening can be significantly reduced with the weak technical capabilities of the device and the low qualification of the specialist. |
| Sorting of fetal cells | Between the 8th and 20th weeks of pregnancy. | Similar to those for chorion biopsy, placentocentesis and cordocentesis. | Erythroblasts or fetal lymphocytes contained in the venous blood of a pregnant woman. | For sorting (separation of fetal cells contained in a woman's blood from her own cells), highly specific monoclonal antibodies and flow laser sorting are used. The resulting fetal cells are subjected to molecular genetic studies. | Practically similar to the possibilities of chorionic biopsy, placentocentesis and cordocentesis | Negligibly low risk of complications for the fetus, due to the low invasiveness of the procedure in combination with diagnostic capabilities identical to those of highly invasive manipulations (chorionic biopsy, etc.) | The large labor and technical intensity of the method, leading to a high cost of research. Insufficient verification in terms of reliability - this technique is currently predominantly experimental and is rarely used in routine practice. |
| 1
Both of the above disadvantages of amniocentesis are canceled if the procedure is carried out earlier (12 weeks) and the laboratories use modern methods of cytogenetic diagnostics. 2 AFP It is produced by the liver of the fetus, and then through the placenta enters the blood of the pregnant woman. Level AFP in the blood of the mother increases with some severe malformations leading to death or disability (defects in the closure of the neural tube, etc.); and, conversely, markedly reduced in Down syndrome. Level NSHF in the blood of the mother with Down syndrome in the fetus increases. Level CG And NE in Down syndrome, the fetus also deviates from the norm. |
