Center for prenatal diagnosis ultrasound recording. Prenatal diagnosis

Prenatal diagnostics is a complex diagnostics aimed at preventing the detection and correction of possible fetal pathologies in the prenatal period. Modern prenatal diagnostics includes several areas: examinations of both future parents when planning a pregnancy, examinations of the fetus during pregnancy.

In reproductive medicine, pre-implantation genetic diagnosis of the embryo occupies an important place. Each direction of prenatal diagnostics has its own methods: genetic, invasive, non-invasive.

Medical clinics "Mother and Child" use all existing methods of effective prenatal diagnosis. The equipment of diagnostic centers and the qualifications of our specialists are an “expert class” in the field of prenatal diagnostics. The decoding of each examination can be carried out collegially: as part of the council, professors, doctors and candidates of sciences - the most competent specialists in the field of prenatal diagnostics in Russia - employees of the leading centers "Mother and Child".

Prenatal diagnostics in "Mother and Child" when planning a pregnancy

When planning a pregnancy, it is advisable to conduct a genetic study of the blood of both future parents - karyotyping - which allows diagnosing possible chromosomal pathologies in a man and a woman, which may not affect their life, but pose a danger to conception, successful pregnancy, health and life of the child. Genetic examination is indispensable when planning a pregnancy with infertility and recurrent miscarriage.

When using in vitro fertilization (IVF), pre-implantation genetic diagnosis (PGD) may be necessary. The study allows you to diagnose various pathologies, such as Down's Syndrome, for example, before the transfer of the embryo into the cavity in the uterus. Viable embryos are implanted without developmental pathologies.

Prenatal diagnosis in "Mother and Child" during pregnancy

Prenatal diagnosis during pregnancy is a set of examinations of the fetus, which allows to identify and, if possible, correct possible pathologies in development before birth. Prenatal diagnosis of the fetus is divided into non-invasive and invasive. Non-invasive prenatal diagnostics includes all types of laboratory blood tests, ultrasound and cardiological examinations.

In the medical clinics "Mother and Child" you can take all the blood tests that may be necessary during pregnancy:

• General clinical blood test;
• Blood chemistry;
• Determination of blood type, Rh factor, blood test for hepatitis B and C, HIV, Wasserman reaction;
• Blood test for sugar;
• Hormonal blood test;
• Blood test for alpha-fetoprotein;
• Blood test for antibodies and antigens;
• Diagnosis of fetal chromosomal pathologies by maternal blood.

We offer a full range of ultrasound diagnostics: expert ultrasound in early pregnancy, 3D ultrasound, weekly 4D ultrasound - our centers have all the necessary equipment to perform any type of ultrasound during pregnancy. The study is carried out by qualified doctors with many years of practical experience in the field of ultrasound diagnostics of pregnant women. The interpretation of ultrasound is mainly carried out collegially: with the participation of the most competent specialists in the field of prenatal diagnostics in Russia - employees of the leading centers "Mother and Child". Deciphering ultrasound during pregnancy is a specialized area of ​​our diagnostic centers. In some cases, we conduct a competent decoding of ultrasound diagnostics carried out in other medical clinics. The correct interpretation of ultrasound during pregnancy is important, which is difficult to overestimate. Often this is really a matter of life.

In "Mother and Child" they carry out gentle invasive diagnostics of the fetus - biopsy of the chorion or placenta, amniocentesis, cordocentesis. Studies are carried out by experienced doctors under ultrasound control in a one-day hospital. Invasive prenatal diagnosis makes it possible to exclude or confirm chromosomal and gene diseases in the fetus with absolute accuracy.

Indications for genetic testing of fetal cells

• Change in the level of biochemical markers;
• Pathology detected by ultrasound;
• Carriage of chromosomal rearrangements by one of the spouses;
• The presence in the family of a child with malformations or chromosomal pathology;
• The age of the pregnant woman is over 35 years.

Pregnancy management programs at Mother and Child include all the necessary examinations during pregnancy. Mandatory screenings during pregnancy are traditionally carried out in each trimester. The plan of examinations can be adjusted depending on the results of the examinations and the course of pregnancy.

The methods that are used to conduct such “mandatory” examinations are non-invasive: they are not associated with penetration into the body cavity, which means they are safe for mom and baby.

The word "prenatal" means "prenatal" (from Latin prae - before and natalis - related to birth). Thus, prenatal diagnosis is any study that allows you to clarify the condition of the fetus. These studies include ultrasound (ultrasound), dopplerometry, CTG (cardiotocography), as well as various laboratory parameters. The listed methods are classified as non-invasive (from Latin invasio - I invade), i.e. they do not require surgery and are therefore not associated with a risk to the mother or fetus. The concept of "prenatal diagnosis" is closely related to the concept of "prenatal screening". The word "screening" means "sifting". In medicine, screening is understood as the conduct of simple and safe studies of large groups of the population in order to identify risk groups for the development of a particular pathology. Prenatal screening refers to tests conducted on pregnant women to determine the risk of pregnancy complications. A special case of prenatal screening is to identify the risk of congenital malformations in the fetus. The general trend in the development of prenatal screening is the desire to obtain reliable information about the risk of developing certain disorders in early pregnancy.

The types of research are:

• biochemical screening - a blood test for various indicators;
• ultrasound screening - detection of developmental anomalies using ultrasound;
• combined screening - a combination of chemical and ultrasound.

Biochemical screening

In terms of pregnancy 10-13 weeks (according to the last menstruation), the following indicators are checked:

• free (3-subunit of human chorionic hormone;
• PAPP-A (pregnancy associated plasma protein A) is a pregnancy-associated plasma protein A.

The calculation of the risk of fetal abnormalities based on the measurement of these indications is called a double biochemical test of the first trimester of pregnancy. Using a double test in the first trimester, the risk of detecting Down syndrome in the fetus is calculated (T21 - trisomy 1 on the 21st pair of chromosomes, T18 - trisomy on the 18th pair of chromosomes). The risk of neural tube defects cannot be calculated using the dual test, since the key indicator for determining this risk is alpha-fetoprotein, which begins to be determined only from the second trimester of pregnancy.

In terms of pregnancy 14-20 weeks after the last menstruation (it is better to analyze at 16-18 weeks), the following biochemical parameters are determined:

• total hCG or free (3-subunit hCG (hCG);
• alpha-fetoprotein (AFP);
• free (unconjugated) estriol (E 3).

This test is called the second trimester triple test, or the second trimester triple biochemical screening. A truncated version of the test is the so-called double test of the second trimester, which includes 2 indicators: hCG, or the free P-subunit of hCG, and AFP. It is understood that the accuracy of the second trimester double test is lower than the accuracy of the second trimester triple test. According to these indicators, the following risks are calculated: Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), neural tube defects (non-closure of the spinal canal and anencephaly - absence of the brain).

Ultrasound procedure

Ultrasound (ultrasound) is the main method for diagnosing the condition of the fetus. This study allows you to exclude some fetal defects, measure the size, at certain stages of pregnancy, evaluate the structure of individual organs, their location and functioning, determine the approximate weight of the baby before childbirth, as well as presentation - which part of the fetus faces the exit from the uterus. In addition, now parents can admire the baby: a three-dimensional ultrasound allows you to “photograph” a baby, and a four-dimensional ultrasound allows you to see the fetus in an almost real three-dimensional image - for example, to see how the baby yawns. During pregnancy, ultrasound is performed at standard times (10-13, 20-24, 28-30 weeks) and according to indications. With a complicated obstetric and gynecological history (the presence of certain complications in the past) and high-risk pregnancy, the timing of ultrasound is individual.

First scheduled ultrasound. The ultrasound examination protocol in the first trimester includes measuring the thickness of the collar space (NTP), measuring the KTR (coccygeal-parietal size of the fetus - the distance from the crown to the coccyx), the fetal heart rate, the length of the nasal bones, the yolk sac4, the location of the chorion ( placental progenitor), an indication of the features of the condition of the uterine appendages, the walls of the uterus.

The main measured size is the so-called collar space (the width of the cervical transparency, the neck fold - NT, from the English nuchal translucency). Cervical transparency is what an accumulation of subcutaneous fluid on the back of the fetal neck looks like on ultrasound. The study is carried out at a certain time and after 13 weeks 6 days will not be informative.

This indicator is not the state of the neck fold, but its width, so the figure must be obtained as accurately as possible! The thickness of the collar space should not exceed 2.5 mm if the study is carried out with a vaginal probe (for transabdominal examination - if the study is carried out through the anterior abdominal wall - the TVP rate is up to 3 mm). An increase in TVP suggests the presence of pathology. Additional ultrasound signs of Down syndrome are:

• determination of the nasal bone (at the end of the first trimester, the nasal bone is not determined in 60-70% of fetuses with Down syndrome and only in 2% of healthy fetuses);
• reduction in the size of the maxillary BONE;
• an increase in the size of the bladder ("megacystitis");
• moderate tachycardia (increased heart rate) in the fetus;
• the state of blood flow in the Arantzian (venous) duct.

These components in the complex are analyzed by an ultrasound doctor.

In addition, other pathologies or their signs are detected in the first trimester:

• exencephaly (anencephaly) - absence of the brain;
• cystic hygroma (swelling at the level of the neck and back of the fetus), in more than half of the cases due to chromosomal abnormalities;
• omphalocele (umbilical hernia) and gastroschisis (significant discrepancy of the muscles of the anterior abdominal wall, while the intestine extends beyond the anterior abdominal wall). The diagnosis of omphalocele can only be made after 12 weeks of pregnancy, since before this period the physiological umbilical hernia, quite often detected, has no clinical significance;
• the only umbilical artery (in a large percentage of cases it is combined with chromosomal abnormalities in the fetus).

The second and third planned ultrasound. The second scheduled ultrasound is performed at 20-24 weeks, the third - at 28-30 weeks. By the beginning of the second trimester, the study clearly distinguishes the limbs of the fetus, head, torso, you can count the fingers on the hands and feet, see the structures of the brain and large internal organs of the chest and abdominal cavity. Therefore, with a probability of 98-100%, malformations can be excluded. Some sizes are also measured; length of the bone part of the back of the nose (on the 22-23rd week, normally from 6 to 9.2 mm - according to domestic authors and from 6 to 10.4 mm - according to foreign ones), BPD (biparietal size), fronto-occipital size, circumference of the head, abdomen, length of the femur and humerus, bones of the lower leg and forearm. In addition to these measurements, be sure to pay attention to the shape of the nose, forehead, upper and lower jaws, etc. For example, the presence of a depression in the region of the bridge of the nose (in combination with a number of other signs) may indicate anomalies of the skeletal system, underdevelopment of the nose - a number of defects in the brain and facial part of the skull. With Down syndrome, changes in the structure of the face of the fetus are also observed. But all these indicators should be assessed only comprehensively.

If there is concern about the development of the fetal cardiovascular system, ECHO cardiography of the fetal heart is performed in specialized medical facilities.

The risk group for the occurrence of fetal malformations includes:

• pregnant women in whom certain changes are found during prenatal screening;
• women in consanguineous marriages;
• pregnant women over 35;
• women who previously had children with malformations.

Doppler

Ultrasound is supplemented by dopplerometry of blood vessels (can be performed both together with ultrasound and separately). Doppler is based on the Doppler effect - a change in the frequency of sound when reflected from a moving object (in this case, such an object is blood that moves through the vessels). When conducting dopplerometry, the blood flow in the vessels of the placenta, uterus, umbilical cord, fetus (cerebral arteries, abdominal aorta) is examined. During the study, the location of the vessels, their diameter, direction and speed of blood flow are assessed. This is how the state of placental circulation is studied, the violation of which underlies numerous obstetric problems. The better the blood flow in the main vessels that feed it, the better the baby feels and the better it grows (according to the timing). The concept of "fetoplacental blood flow" implies the exchange of blood between the umbilical cord, the vessels of the placenta. There are certain standards for dopplerometry in these vessels. Uteroplacental blood flow is the blood flow between the vessels of the uterus and the placenta (because the placenta is attached to the wall of the uterus). The most common cause of impaired blood flow is an increase in vascular tone. This is either due to pre-pregnancy hypertension, kidney disease, or due to increased blood clotting. An important point is the timeliness of dopplerometry, since in practice very often the study of blood flow is carried out too late, when the violations are already expressed and complications develop. The first dopplerometry is recommended at 23-24 weeks of pregnancy.

Cardiotocography

CTG (cardiotocography) is one of the leading methods for assessing the condition of the fetus in the antenatal period (from the 28-30th week of pregnancy). CTG is a simultaneous recording of the fetal heart rate, its motor activity and uterine tone. Modern cardiac monitors are based on the Doppler principle. The cardiotocograph automatically calculates the fetal heart rate per minute and records it on a graph as a curve.

The reasons for the deviation of CTG parameters from normal values ​​may be:

• fetal hypoxia (lack of oxygen);
• congenital anomalies of the fetal cardiovascular system;
• fetal heart rhythm disturbances;
• fetal anemia (decrease in the amount of hemoglobin and red blood cells);
• fetal sleep cycle
• increased body temperature in the mother;
• increased thyroid function in the mother;
• amnionitis - inflammation of the membranes;
• the use of certain drugs.

It is possible to obtain a high-quality record that allows you to adequately assess the condition of the fetus only from the 32nd week of pregnancy, since from that time on the fetus begins to form the “activity-rest” cycle. Recording must be carried out in the position of a woman on her left side for 40-60 minutes. In addition to analyzing the fetal cardiac activity at rest, using CTG, it is possible to assess the change in its cardiac activity in response to spontaneous movements (non-stress test).

At-risk groups

So, prenatal screening - both biochemical and ultrasound - is recommended for all pregnant women, if possible in the amount described above. Unfortunately, not all medical institutions in the country have the technical capabilities to carry out all the studies included in the concept of prenatal screening, the issue of providing services within the framework of compulsory health insurance is resolved differently in different regions.

Thus, thanks to the data of the screening examination, as well as the study of the anamnesis data, a risk group is formed. It includes patients among whom the probability of detecting a particular pathology of pregnancy is higher than in the entire population (among all women in the region). There are risk groups for the development of miscarriage, late toxicosis, various complications in childbirth, etc. If a woman, as a result of an examination, is at risk for a particular pathology, this does not mean that this pathology will necessarily develop. This only means that in this patient one or another type of pathology may occur with a greater probability than in other women. Thus, the risk group is not identical to the diagnosis. A woman may be at risk, but she may not have any problems during pregnancy. Conversely, a woman may not be at risk, but she has a problem. Pregnant women at risk are referred for a consultation with a geneticist. The geneticist is evaluating the need for invasive methods for examining the fetus, which we will talk about in the next issue.

Interpretation of Triple Test Results

1 Trisomy is the presence of one or more extra chromosomes in the chromosome set of an organism.

2 Below the normal range for a given gestational age,

3 Above normal for a given gestational age.

4 The yolk sac is an outgrowth of the middle section of the intestine of the embryo. Filled with yolk and performs the function of nutrition, respiration and hematopoiesis.

Prenatal diagnosis is a complex of examinations. The main goal is to identify various pathologies in an infant at the stages of intrauterine development.

The most common methods of prenatal diagnosis: ultrasound, the content of various markers in the blood of a pregnant woman, chorion biopsy, taking cord blood through the skin, amniocentesis.

Why do you need prenatal diagnosis?

Using various methods of prenatal diagnosis, it is realistic to detect such disorders in the development of the fetus as Edwards syndrome, Down syndrome, disorders in the formation of the heart and other abnormalities. It is the results of prenatal diagnosis that can decide the future fate of the child. After receiving diagnostic data, together with the doctor, the mother decides whether the child will be born or the pregnancy will be terminated. Favorable prognosis may allow fetal rehabilitation. Prenatal diagnosis also includes establishing paternity by genetic testing, which is carried out in the early stages of pregnancy, as well as determining the sex of the fetus. All these services in the capital are provided by the Center for Prenatal Diagnostics on Mira Avenue, headed by Professor M.V. Medvedev. Here you can undergo a comprehensive prenatal examination, including ultrasound. Modern technologies 3D, 4D are used in the Center.

Methods of prenatal diagnosis

Modern prenatal diagnostics uses a variety of methods and technologies. The degree, as well as the level of opportunities they have is diverse. In general, prenatal diagnosis is divided into two large groups: invasive prenatal diagnosis and non-invasive.

Non-invasive, or as they are also called, minimally invasive, methods do not involve surgical interventions and trauma to the fetus and mother. Such procedures are recommended for all pregnant women, they are not at all dangerous. Scheduled ultrasound examinations are a must. Invasive methods involve invasion (intervention) into the body of a pregnant woman, into the uterine cavity. The methods are not completely safe, therefore, the doctor prescribes them in extreme cases, when there is a question about preserving the health of the unborn child.

Non-invasive methods include ultrasound or prenatal screening, which allows you to monitor the dynamics of the development of the fetus. Prenatal diagnosis of the fetus by maternal serum factors is also considered non-invasive.

Ultrasound is the most common procedure, has no harmful effects on the woman and the fetus itself. Should all mothers-to-be undergo this study? The question is debatable, maybe it is not required in every case. An ultrasound is prescribed by a doctor for many reasons. In the first trimester, you can determine the number of pregnancies, whether the fetus itself is alive, what is the exact period. At the fourth month, ultrasound can already show the rough location of the placenta, the amount of amniotic fluid. After 20 weeks, it is possible to determine the sex of the unborn child. It allows ultrasound to detect various anomalies if the analysis showed a high alpha-fetoprotein in the pregnant woman, and also if there are any malformations in the family history. It is worth noting that not a single ultrasound result can guarantee a 100% birth of a healthy fetus.

How is an ultrasound performed?

Prenatal prenatal diagnosis in the form of ultrasound is recommended for all pregnant women at the following times:

• 11-13 weeks of pregnancy;
• 25-35 weeks of pregnancy.

Diagnosis of the state of the mother's body, as well as the development of the fetus, is provided. The doctor installs a transducer or sensor on the surface of the pregnant woman's abdomen, sound waves invade. These waves are captured by the sensor, and it transfers them to the monitor screen. In early pregnancy, the transvaginal method is sometimes used. In this case, the probe is inserted into the vagina. What abnormalities can be detected by ultrasound screening?
. Congenital malformations of the liver, kidneys, heart, intestines and others.
. Up to 12 weeks, signs of the development of Down syndrome.
The development of the pregnancy itself:
. Ectopic or uterine.
. The number of fetuses in the uterus.
. Gestational age.
. Head or pelvic presentation of the fetus.
. Lagging behind in development.
. The nature of the heartbeat.
. Gender of the child.
. Location and condition of the placenta.
. Blood flow in the vessels.
. Tone of the uterus.

So, ultrasound makes it possible to detect any deviations. For example, uterine hypertonicity can lead to a threatened miscarriage. Having discovered this anomaly, it is possible to take timely measures to preserve the pregnancy.

Blood screening

Blood serum taken from a woman is examined for the content of various substances in it:
. AFP (alpha-fetoprotein).
. NE (unconjugated estriol).
. HCG (chorionic gonadotropin).
This method of prenatal screening has a fairly high degree of accuracy. But there are cases when the test shows either a false positive or a false negative result. Then the doctor prescribes additional methods of prenatal screening, such as ultrasound or some kind of invasive diagnostic method.

The Center for Prenatal Diagnostics on Prospekt Mira in Moscow conducts ultrasound in just 1.5 hours, and also provides prenatal consultation. In addition to the first trimester screening, it is possible to undergo a second trimester biochemical screening along with counseling and ultrasound.

Prenatal diagnosis of hereditary diseases uses the method of determining the level of alpha-fetoprotein in the blood. This screening test allows you to identify the likelihood of a baby being born with a pathology such as anencephaly, spina bifida and others. Also, a high alpha-fetoprotein can indicate the development of several fetuses, incorrectly set dates, the possibility of miscarriage, and even a missed pregnancy. The analysis gives the most accurate results if it is done at the 16-18th week of pregnancy. Results before the 14th or after the 21st week are often erroneous. Sometimes blood donations are ordered. With a high rate, the doctor prescribes an ultrasound, this allows you to more reliably obtain confirmation of the disease of the fetus. If ultrasound does not determine the cause of the high content of alpha-fetoprotein, then amniocentesis is prescribed. This study more accurately determines the change in alpha-fetoprotein. If the level of alpha-fetoprotein in the patient's blood is increased, then complications during pregnancy may occur, for example, developmental delay, possible fetal death, or placental abruption. Low alpha-fetoprotein combined with high hCG and low estriol indicate the possibility of developing Down syndrome. The doctor takes into account all indicators: the age of the woman, the content of hormones. If required, additional prenatal research methods are prescribed.

hCG

Human or (hCG) during early pregnancy allows you to evaluate the most important indicators. The advantage of this analysis is the early timing of the determination, when even ultrasound is not informative. After fertilization of the egg, hCG begins to be produced already on the 6-8th day.
HCG as a glycoprotein consists of alpha and beta subunits. Alpha is identical to pituitary hormones (FSH, TSH, LH); and beta is unique. That is why a test for the beta subunit (beta hCG) is used to accurately obtain the result. In express diagnostics, test strips are used, where a less specific hCG test (in urine) is used. In the blood, beta-hCG accurately diagnoses pregnancy as early as 2 weeks from fertilization. The concentration for the diagnosis of hCG in the urine matures 1-2 days later than in the blood. In urine, the level of hCG is 2 times less.

Factors Affecting HCG

When determining hCG during early pregnancy, some factors that affect the result of the analysis should be taken into account.
Increasing hCG during pregnancy:
. Discrepancy between the expected and actual time.
. Multiple pregnancy (the increase in the result is proportional to the number of fetuses).
. early toxicosis.
. Preeclampsia.
. Serious malformations.
. Reception of gestagens.
. Diabetes.
A decrease in the level of hCG - a mismatch of the term, an extremely slow increase in the concentration of hCG by more than 50% of the norm:
. Discrepancy between the estimated and actual time (more often due to an irregular cycle).
. Threat of miscarriage (level decreases by more than 50%).
. Frozen pregnancy.
. Overwearing.
. Ectopic pregnancy.
. Chronic placental insufficiency.
. Fetal death in the 2nd or 3rd trimester.

Invasive methods

If the doctor decides that invasive prenatal diagnosis should be used to detect hereditary diseases, developmental disorders, one of the following procedures may be used:
. Cordocentesis.
. Chorionic biopsy (a study of the composition of the cells from which the placenta is formed).
. Amniocentesis (examination of amniotic fluid).
. Placentocentesis (negative consequences are revealed after past infections).

The advantage of invasive methods is speed and a 100% guarantee of results. Used in early pregnancy. So, if there is any suspicion of abnormalities in the development of the fetus, prenatal diagnosis of hereditary diseases allows us to draw accurate conclusions. Parents and the doctor can decide in time whether to keep the fetus or terminate the pregnancy. If parents, despite the pathology, still decide to leave the child, doctors have time to properly manage and correct the pregnancy and even treat the fetus in the womb. If the decision to terminate the pregnancy is made, then in the early stages, when deviations are detected, this procedure is physically and mentally tolerated much easier.

Chorionic biopsy

It involves the analysis of a microscopic particle of the villous chorion - the cells of the future placenta. This particle is identical to the genes of the fetus, which allows us to characterize the chromosomal composition, to determine the genetic health of the baby. The analysis is carried out if there is a suspicion of diseases associated with chromosomal errors during conception (Edwards syndrome, Down syndrome, Patau, etc.) or at the risk of developing incurable diseases of cystic fibrosis, sickle cell anemia, and Huntington's chorea. The result of a chorion biopsy reveals 3800 diseases of the unborn child. But such a defect as a defect in the development of the neural tube cannot be detected by this method. This pathology is found only during amniocentesis or cordocentesis procedures.
At the time of the analysis, the thickness of the chorion should be at least 1 cm, which corresponds to 7-8 weeks of pregnancy. Recently, the procedure is carried out at the 10-12th week, it is safer for the fetus. But no later than the 13th week.

Carrying out the procedure

The puncture method (transcervical or transabdominal) is chosen by surgeons. It depends on where the chorion is located relative to the walls of the uterus. In any case, a biopsy is performed under ultrasound control.

The woman lies on her back. The chosen place for the puncture must be anesthetized with local influence. The puncture of the abdominal wall, the walls of the myometrium is made in such a way that the needle enters parallel to the chorion membrane. An ultrasound monitors the movement of the needle. The syringe is used to take the tissues of the chorionic villi, the needle is removed. With the transcervical method, the woman is placed on a chair as in a normal examination. Explicitly expressed painful sensations are not felt. The cervix and the walls of the vagina are fixed with special forceps. Access is provided by a catheter, when it reaches the chorionic tissue, a syringe is attached and material is taken for analysis.

Amniocentesis

Methods of prenatal diagnosis include the most common - the method of determining the pathologies of fetal development - amniocentesis. It is recommended to carry it out at 15-17 weeks. During the procedure, the condition of the fetus is monitored by ultrasound. The doctor inserts a needle through the abdominal wall into the amniotic fluid, aspirates a certain amount for analysis, and the needle is removed. Results are being prepared in 1-3 weeks. Amniocentesis is not dangerous for the development of pregnancy. Fluid leakage may occur in 1-2% of women, and this will stop without treatment. Spontaneous abortion can occur only in 0.5% of cases. The needle does not damage the fetus, the procedure can be carried out even with multiple pregnancies.

genetic methods

The DOT test is the latest safe genetic method in the study of the fetus, it allows you to identify the syndrome of Patau, Edwards, Down, Shereshevsky-Turner, Klinefelter. The test is based on data obtained from the mother's blood. The principle is that with the natural death of a certain number of placental cells, 5% of the fetal DNA enters the mother's blood. This makes it possible to diagnose major trisomies (DOT test).

How is the procedure carried out? A pregnant woman is taken, fetal DNA is isolated. The result is issued within ten days. The test is carried out at any stage of pregnancy, starting from the 10th week. Reliability of information 99.7%.