Prenatal diagnostics of chromosomal anomalies

A complex ethical question is whether to conduct a survey to identify genetic pathologies of the future kid, each pregnant solves for itself. In any case, it is important to have all the information on modern diagnostic capabilities.

What are the invasive and non-invasive methods of prenatal diagnostics today, as far as they are informative and safe and in what cases are used, Julia Chatech, Candidate of Medical Sciences, Head of the Prenatal Ultrasonic Diagnostics Department of the Ultrasound Studio Medical Centers Network.

Why do you need a prenatal diagnosis?

Possible genetic pathologies over the course of pregnancy help various methods. First of all, it is an ultrasound study (screening), with the help of which the doctor may notice deviations in the development of the fetus.

The second stage of prenatal screening during pregnancy - biochemical screening (blood test). These analyzes, also known as "double" and "triple" tests, today runs every pregnant. It allows with some degree of accuracy to predict the risk of existence of chromosomal fetal anomalies.

” It is impossible to put an accurate diagnosis on the basis of such an analysis, for this requires chromosomal studies - more complex and expensive.

Chromosomal studies are not mandatory for all pregnant women, however, there are certain readings:

future parents are close relatives;

future mother over 35 years old;

the presence in the family of children with chromosomal pathology;

miscarriage or frozen pregnancy in the past;

potentially dangerous for the fetus diseases transferred during pregnancy;

shortly before conception, one of the parents was subjected to ionizing radiation (x-ray, radiation therapy);

risks identified as a result of ultrasound.

Opinion of a specialist

The statistical probability of the birth of a child with a chromosomal disorder - from 0.4 to 0.7%. But it must be borne in mind that this risk in the population as a whole, for individual pregnant women it can be extremely high: basic risk depends on age, nationality and various social parameters. For example, the risk of chromosomal anomalies in a healthy pregnant woman is increasing with age. In addition, there is an individual risk that is determined on the basis of biochemical and ultrasound data.

"Double" and "triple" tests

Biochemical screenings also known as , and in the spacious, referred to and at all "Analysis on Down syndrome" or "Analysis for deformities", conduct in a strictly defined period of pregnancy.

Double test

Double test makes 10-13 weeks of pregnancy. During this blood test, the magnitude of such indicators as:

free hCG (chorionic gonadotropin),

Rarra (plasma protein A, inhibitor A).

The analysis should be done only after the ultrasound, whose data is also used when calculating risks.

Specialist will require the following data from the conclusion of the ultrasound: Date of the ultrasound, Copchiko-Dummer Size (CTR), Biparity Size (BPR), the thickness of the collar space (TVP).

Triple Test

The second is "triple" (or the "quad") test of pregnant women recommend passing on July 16-18.

During this test, the number of following indicators is investigated:

alpha Fetoprotein (AFP);

free estriol;

ingibin A (in the case of a quadru-test)

Based on the analysis of the data of the first and second biochemical screening and ultrasound, doctors calculate the likelihood of such chromosomal anomalies as:

down syndrome;

edwards syndrome;

defects of the nervous tube;

syndrome Patau;

turner syndrome;

cornelia de Langa SDROM;

smith's Syndrome Lemlie Opuddets;

triploidy.

Opinion of a specialist

Dual or triple test is biochemical analyzes that determine the blood concentration of identified substances characterizing the state of the fetus.

How do the risks of chromosomal anomalies calculate?

On the results of biochemical screening, in addition to possible chromosomal pathologies, many factors affect, especially age and weight. To determine statistically reliable results, a database was created in which women were divided into groups by age and body weight and counted the averaged "double" and "triple" test.

The average result for each hormone (MOM) and became the basis for determining the boundaries of the norm. So, if the result is 0.5-2.5 units obtained at MOM, the hormone level is considered normal. If less than 0.5 MOM - low, above 2.5 - high.

What is the degree of risk of chromosomal anomalies considered high?

In the final conclusion, the risk for each pathology is indicated in the form of a fraction.

High consider risk 1: 380 and higher.

Average - 1: 1000 and below is a normal indicator.

Very low consider the risk 1: 10,000 and below.

This figure means that out of 10 thousand pregnant women with such a level, for example, hCG, only one born a child with Down syndrome.

Opinion of a specialist

Risk 1: 100 and above is the indication for the diagnosis of chromosomal pathology of the fetus, but the measure of the criticality of these results each woman is determined by itself. Someone probability 1: 1000 may seem critical.

Pregnant Biochemical Screening Accuracy

Many pregnant women with caustic and skepticism belong to biochemical screening. And this is not surprising - this test does not give any accurate information, on its basis it is possible only to assume the likelihood of the existence of chromosomal disorders.

In addition, the informativeness of biochemical screening may decrease if:

pregnancy occurred as a result of Eco;

the future mother has diabetes;

pregnancy multiple;

future mother has overweight or its flaw

Opinion of a specialist

As an isolated study, double and triple tests have a small prognostic value, when taking into account data ultrasound, reliability increases to 60-70%, and only when conducting genetic tests, the result will be accurate by 99%. We are talking only about chromosomal disorders. If we are talking about congenital pathology that is not related to chromosome defects (for example, the "hunger of the lip" or congenital defects of the heart and brain), then a professional ultrasound diagnosis will give a reliable result here.

Genetic analyzes in suspecting the presence of chromosomal anomalies

Based on the conclusion of the ultrasound or with adverse results of biochemical screening, genetics can offer a future mother to pass . Depending on the period, this may be a biopsy of chorion or placenta, amniocentesis or cordocentsis. Such a study gives high-precision results, but in 0.5% of cases such intervention can cause miscarriage.

The material for genetic research is carried out under local anesthesia and ultrasound control. A thin needle doctor makes a puncture of the uterus and carefully takes genetic material. Depending on the period of pregnancy, these may be particles of chorion or placenta (chorion biopsy or placenta), amniotic fluid (amniocentesis) or bodies of cord veins (cordocentsis).

The resulting genetic material is exchanged for analysis, which will determine or eliminate the presence of many chromosomal anomalies: Down syndrome, Patau syndrome, Ewards syndrome, Turner syndrome (accuracy - 99%) and Klinfelter syndrome (accuracy - 98%).

” Four years ago there was an alternative to this method of genetic research - a non-invasive prenatal genetic test. This study does not require the receipt of genetic material - it is enough to take blood from the vein of the future mother for analysis. At the heart of the method - the analysis of Fruit DNA fragments, which in the process of updating its cells fall into the bloodstream of pregnant women.

You can do this test since 10 weeks of pregnancy. It is important to understand that this test is still not much disseminated in Russia, it makes very few clinics, and not all doctors are considered with its results. Therefore, you need to be prepared for the fact that the doctor can strongly recommend an invasive examination in the event of high risks on ultrasound or biochemical screening. Whatever it was - the decision always remains for future parents.

In our city, non-invasive prenatal genetic tests make clinics:

"Avicenna". Test Panorama. Non-invasive prenatal genetic diagnosis of Aneuploidium 42 tr. Non-invasive prenatal genetic diagnosis of aneuploidium and micride - 52 tr

"Almit". Test Panorama. Cost from 40 to 54 tr. Depending on the completeness of the study.

"Uzi-Studio". Test Prenetix. Cost 38 TR

Opinion of a specialist

Only chromosomal analysis can confirm or eliminate chromosomal pathology. Ultrasound and biochemical screening can only calculate the size of the risk. Analysis on such pathology as a Down syndrome, Edwards and Patau can be held from 10 weeks of pregnancy. This is done by obtaining DNA of the fetus directly from the structures of the fetal egg (direct invasive method). The risk arising from invasive intervention, in the presence of direct testimony, is guaranteed below the danger of chromosomal pathology (approximately 0.2-0.5% according to different authors).

In addition, today any pregnant in its own willing may undergo a survey for the presence of basic genetic diseases in the fetus direct non-invasive method. For this, it is enough just to pass blood from the vein. The method is absolutely safe for the fetus, but quite expensive, which limits its widespread use.

Not easy solution

The question of whether the diagnosis of genetic diseases is needed during pregnancy and what to do with the information received as a result of research by each woman solves for itself. It is important to understand that doctors have no right to provide pregnant pressure on this issue.

Opinion of a specialist

Under the period of pregnancy up to 12 weeks, a woman can determine the need to interrupt pregnancy in case of detecting any fruit pathology. In a later date, there is a good basis for this: pathological conditions incompatible with the life of the fetus and diseases, which will subsequently lead to a deep disability or death of a newborn. In each particular case, this issue is solved according to the period of pregnancy and the forecast for the life and health of the fetus and the most pregnant.

There are two grounds for which doctors can recommend to interrupt pregnancy:

developed malformations from a fetus that are not compatible with life or with a deployment of the deep disability of the child;

the state of the mother, in which pregnancy prolongation can cause an unfavorable course of the disease with the threat to the life of the mother.

Prenatal diagnostics - whether it is a biochemical, ultrasound or genetic study is not mandatory. Some parents want to have the most complete information, others prefer to be limited to the minimum set of surveys, trusting nature. And every choice is worthy of respect.

On the forum ("related" topic) I also made a test, but it is not 40t worth it, but less !!! I am waiting for the results, very scary, but we will be reinsured. Blood from Vienna. Louds tell about punctures, it's generally horror with an ax. I hope for a good result. In the NGC clinic, on the recommendation of my aunt. I will write an answer. I will add tests of different several, as a whole they are the same:
1. Panorama Panoramatest.ru can be passed in the Altite from 40tr, but you can order directly, from 35tr, send tubes by courier, hand over the blood anywhere, the courier takes the test tubes, 14 calendar days, write what happens and faster, in Avicer .
2. Dot-test Health.genoanalytica.ru/dot-test can be passed into my gene on Gogol 15, 35tr, 10 days
3. Prenetix can be passed to UZISTUDIO.RU 40tr Topliner
Yes, you describe a very sad version of the development of events. Plushfish, but unfortunately, this check at high risks - by and large - it is possible only with the help of invasive methods ((it turns out that we obtain the results of this analysis somewhere on the 13-15 week of pregnancy. If you do a blood test ( Non-invasive methods), then it is another 3-4 weeks, despite the fact that its results are also not 100% and are not the basis - in case of a bad result (do not give God to anyone) - for further action. Those. In case of bad result You will have to diagnose the invasive method, and this is still at the best 2 weeks. Topliner
I understood you, thanks for the opinion, experience and information, from my point of view it is very valuable.

I want to emphasize that the main message of the article is that as an isolated study, biochemical screening has a slight value, that is, its results (within a certain statistical threshold) in any case require verification. Plushfish, you misunderstand me. Feelings here have nothing to do with it, but the article on the medical topic must comply with the orders and standards. High / low / medium risk are registered standards and corresponding to the actions algorithm. And also causes certain negative reactions in pregnant women. Before a woman with risk, for example, 1: 370, will fall to genetics, it will assume that it is in a high risk group by Ha. Imagine how many negative experiences? It would be better to indicate that there are several points of view. And with sources to specify options for risks. I don't want anything from you, I just share your experience on a given topic: You need to be careful with the risk assessment. For the sim I propose to finish, everyone expressed their point of view. Topliner.
In the material it is written that risks 1: 380 are the basis for consulting genetics, and not invasive intervention.

I'm sorry if this material hurt your feelings.

The topic is really very delicate and ethically complicated. I do not quite understand: what do you want from me? Sorry, I do not understand very well what does "relatively high" mean.
The risk from 1: 250 and to 1: 1000 is considered border, medium. The classification that is applied by one of the authoritative FDI institutions: http://www.medgenetics.ru/medicine/shema_obsledovanija/.
And indeed, this is the basis for consulting genetics. By the way, at risk 1: 394 (that is, below the value of 1: 380), in my time, a consultation of genetics was also appointed.
High risk is the basis for conducting invasive diagnostics.

For women receiving this analysis, the distinction of high-border (medium) is very important. I understood this last weeks (for personal purposes), and I can say that the three genetics was confirmed above - the main geneticist of Novosibirsk, the main geneticist of the Novosibirsk region, the main physician of the Tomsk genetics. In order to finally clarify the question that has emerged during our discussion, I again turned to our advice experts:
Topliner.
Thanks for clarifications. All price information is obtained directly from the clinic. Of course, you need to specify when contacting. On risks All information is indicated. The measure of criticality is determined by every woman herself. The article is useful, but not very accurate.
1. Highly consider the risk not 1: 380 and higher (at least on SD), and 1: 100 and above, in this case, the doctors will insist on invasive diagnostics. Border - 1: 250, here will be offered, decision to take a woman.

2. Prices for non-invasive diagnostics above. So, in the ultrasound studio it is 38,000 + 1600 for transportation. In Avicenne from 45 thousand rubles. Very timely (for me) information. Tomorrow is the first screening in the LCD, I also want to make a double in a private clinic. Because From the first pregnancy, I do not really trust the results of the LCD - five years ago I was convinced that at 30 years old woman could not be healthy and to make a pregnancy normally! Than just not frighten! Alone did not check out for 32 weeks by mistake Uzi spent in the LCD. Well, now it is even suppressed at 35-36 years, it's just not real! The crystal vase mode is mandatory + intimidated by genetics (for all sources of risks, growth after 35!). Warned (informed) - it means armed!
Thank you!

Each future mother is worried about the health of his child. Modern medicine makes it possible to find out whether everything is in order with the health of the baby, whether he has any deviations in the development, predisposition to genetic diseases. For this, pregnant women hand over genetic analysis during pregnancy.

Indications for analysis

Genetic analysis is a set of research, observations, calculations that make it possible to study the properties of genes and determine hereditary signs.

Genetic analysis during pregnancy is appointed in the following cases:

• the age of the future mother older than 35 years;
• the presence of hereditary (genetic) diseases in the family of a pregnant woman or her spouse;
• the woman has already born a child with genetic pathology;
• the woman had miscarriages or a stillborn child;
• during the period of conception and pregnancy on the body of women, negative factors (radiation, x-rays) were affected or she took alcohol, drugs, some drugs, unwanted for use during this period;
• during pregnancy, the woman suffered an acute viral infection (rubella, toxoplasmosis, influenza, ARVI);
• biochemical blood test or ultrasound examination showed the risk of developing genetic pathology in the fetus.

All types of analyzes for genetics during pregnancy can be divided into invasive methods and genetic blood tests.

Genetic blood tests

Recently, the so-called triple test is increasingly in the diagnosis of hereditary diseases of the future child. With it, it is examined by the markers of genetic pathologies of the fetus and malformations - alpha-fetoprotein (AFP), human chorionic gonadotropin (HCG) and estriol (E3).

Alpha Fetoprotein (AFP)

Alpha fetoprotein is the main component of the serum of the forming fetus. This is a protein that is produced by the liver and the digestive system of the baby. With the urine of the child, AFP goes into the oily water and through the placenta enters the blood of the mother. Exploring the venous blood of the mother, one can determine the amount of this substance produced by the fruit. Detect alpha-fetoprotein in the blood of the mother, after 5-6 weeks of pregnancy.

The increase in the level of AFP in the blood is available in the following pathologies of the fetus:

• defects in the infection of the nervous tube (hernia of the head or spinal cord);
• the defects of the anterior abdominal wall in which the skin and the abdominal wall muscles do not close the internal organs, and other organs, including intestines, are closed with a film stretched umbilical cord;
• duodenal infection;
• kidney development anomalies.

Significant to diagnose the result of genetic analysis during pregnancy on AFP is to increase the level of AFP at 2.5 and more than one time.

The reduced content of this protein in the blood is often found when an additional chromosome appears in the fetus, which may indicate the development of such pathologies as Edwards syndromes, Down, Sherchesev-Turner. In some cases, the change in the content of AFP is with multiple pregnancy, fetoplacentar insufficiency, the threat of pregnancy interrupt.

Horionic gonadotropin of man (hCG)

HCG is a protein that is produced by the cells of the chorion of the fetus. Chorion is a part of the embryo, from which a placenta is formed in the future. After conception, Horion begins to allocate hCGs in a very rapid pace. The level of this protein is doubled every day during the first trimester of pregnancy. The peak of this indicator comes to 7-10 weeks of the hatching. Then he gradually decreases, not significantly changing in the second half of pregnancy. The quantitative determination of human chorionic gonadotropin makes it possible to control the flow of pregnancy. With a frozen or ectopic pregnancy, the growth rate of this protein does not correspond to the norm.

If during pregnancy, genetic analysis on hCG revealed an increase in the content of gonadotropin, this may indicate the development of the child's Down syndrome, toxicosis in the mother, torsion of pregnancy. The reduced amount of HNH occurs with such a genetic disease of the fetus, as Edwards Syndrome (multiple defects of the development of internal organs and mental retardation).

Free estriol (E3)

Free estrogen (E3) refers to estrogen - female sex hormones. Since the formation of the placenta, its content in the blood of the mother increases significantly. At first, most of the estriol is produced by the placenta, later it produces the liver of a child. The determination of this hormone in the blood allows you to identify the risk of developing pathologies of the fetus.

The result of genetic analysis for free estriol is considered dangerous, which indicates its decrease by 40% or more. Such a level of this indicator may be with the defects of the development of congenital heart defects, a fetal intrauterine infection. In addition, it may indicate the development of a child of Down syndrome, the risk of premature births. The decrease in the content of E3 in the blood is occasionally in renal failure and liver disease.

Invasive methods of genetic examination

If a genetic blood test during pregnancy indicates the possibility of developing hereditary pathologies, a woman is prescribed an invasive method of genetic examination. A feature of such diagnostic methods is that when the material is fence, a woman is introduced into the body.

There are four most commonly used invasive methods of genetic analysis during pregnancy.

1. Amniocentesis - The study of the accumulative water, which is carried out in order to determine the genetic pathologies of the fetus. With it, it is possible to detect Down syndrome, Patau, Edwards, fibrous-cystic defects of development, muscle dystrophy, nervous tube defects, thai-saks disease, sickle-cell disease, hemophilia. When carrying out the fence of the material, the Women's Makeup is pierced with a special needle and take a sample of arrogant water.
2. Biopsy Chorione - Investigation of cells of chorion. This analysis makes it possible to reveal such fruit diseases in very early pregnancy such as thalassemia, cystic cycling syndrome, sickle cell anemia, thai-saks syndrome. Chorion's biopsy is an abdominal cavity puncture of a pregnant woman to fence the base of the placenta. In some cases, for research use the contents of the cervix.
3. Placentocentsis - Study of placenta tissue cells. This analysis method allows you to identify hereditary diseases in the fetus, which are associated with a change in the amount and quality of chromosomes (Down syndrome), and many other gene violations. Placentzetsis is a rather complicated procedure, so it is carried out under general anesthesia. During its holding, they make a puncture of the anterior abdominal wall of a woman and take a piece of placenta for diagnosis.
4. Cordocentsis - Study of blood from umbilical cord. With this analysis, chromosomal and hereditary diseases, hemolytic diseases of the fetus, reserves conflict are diagnosed. During the cordo-beer, a thin needle through the front abdominal wall of a woman is cast into a vessel of umbilical cord and take blood sample.

The results of genetic tests during pregnancy make it possible to diagnose complex child diseases. Often, thanks to this diagnosis, doctors carry out intrauterine toddler therapy, significantly reducing the risk of developing severe pathologies.

Genetic analysis during pregnancy plays an important role. It helps to determine the intrauterine abnormalities of the fetus, calculate the diseases of hereditary etiology. Some deviations caused by genetics can be determined at the stage of passing scheduled screening. With the existence of the probability of chromosomal deviations, highly informative diagnosis, consisting of invasive methods, is shown. It is possible to get a forecast regarding the offspring until the conception. You need to pass a number of genetic analyzes in the planning of pregnancy.

Plan your family replenishment. At this stage, the help of a narrow-profile specialist - genetics may be required. Why are directed to genetics? So you can learn about the risks associated with the health of the future offspring, even before the birth of a new life.

Only a specialist can give a forecast for a new generation of family. Conducting genetic tests before pregnancy allows you to determine the possible hereditary diseases of the future child. This is especially important if there were cases of genetic diseases in the family in the pair. At the planning stage of conception informative for genetics are chromosomal sets of partners. The risk assessment of the baby's birth with deviations is carried out with a number of specific studies, after which the genetics is a forecast.

If there is no serious reasons for consulting genetics, and the couple simply decided to reinforce it, then sometimes a clinical and genealogical diagnostic method is sufficient. It consists in collecting pedigree data with the definition of states caused by genetic information. Genetics analyzes the source data and is a forecast. When clinical and genealogical diagnostics determines the likelihood of developing pathologies, an additional examination of partners is shown.

Genetic analyzes have not yet been an ordinary business for most families. Therefore, in modern medicine, close attention is paid to prenatal diagnosis of gene information. There are a number of analyzes that allow you to learn about chromosomal pathologies of intrauterine.

When a genetic analysis is needed

Children get hereditary characteristics by transferring from parents. Gene information is stored in forty-six chromosomes. This is a standard set. However, if a chromosomal violation occurs, pathology occurs. Modern medicine can determine the likelihood of gene failures during planning and in the prenatal period.

All couples dream of a healthy baby. Genetic studies help learn about the likelihood of a baby's birth with hereditary diseases. Pregnant analyzes can pass at will. However, there are a number of indications under which complex tests are a necessity. Do not ignore the tests for genetics if:

Additional research is shown if the impact of negative factors on the female organism was recorded in the first trimester. For example, when transferring a viral infection in an "interesting" position. Or if the future mother, not knowing about a new life inside, took medicines, abused alcoholic beverages, X-ray passed. The influence of these factors on the genes is not fully studied, but they can cause various developmental disorders that can be determined by intrauterine.

Genetic analysis is voluntary. But in the presence of testimony, you need to listen to the recommendations of the doctor and go through a comprehensive examination. This will help identify pathology at the embryo and make a weighted decision on the continuation or interruption of pregnancy.

Screening methods of diagnosis

An important role in the definition of a genetic pathology of a genetic nature is played by screening diagnostics. It is pretty early. Simple diagnostic methods allow you to determine risk pregnancy. To form an accurate diagnosis, genetic analysis during pregnancy should be more informative than screening research. What kind of method choose individually the doctor is determined.

Unknown screening methods include ultrasound. The first scheduled survey is recommended to take about 12 weeks. At this stage, you can define the markers of some hereditary diseases. For example, on the first ultrasound examination, the risks of the presence of Down syndrome in the fetus are determined. Ultrasound repeat after the 20th week. Re-screening is highly accuracy compared to the first.

According to the results of the ultrasound, you can only assume a genetic deviation at the embryo. This method is aimed at identifying risks. A preliminary diagnosis requires confirmation. A woman who fell into a risky group on the results of ultrasound research, you need to listen to the recommendations of the doctor. With a high probability, the presence of pathology after screening is prescribed a number of specific analyzes.

No hasty conclusions should be made and take action, relying only on the results of ultrasound research. The decision to interrupt pregnancy for medical testimony should be taken only after a comprehensive examination and accurate diagnosis. If doubts arise in the correctness of the diagnosis, you must consult with several doctors.

Triple Test

Genetics during pregnancy can be clarified using a triple test. It is especially important to hand over the analysis when belonging to the risk group. If ultrasound pointed out possible disorders, the testing can confirm or refute the guesses. Triple test is a blood test, in which three main indicators are investigated:

The violation of the rate of indicators of the triple test may indicate both hereditary pathology and an anomaly arising from intrauterine (not having bonds with chromosomal information). The level of hormones accurately does not determine the genetic disease, but suggests that the fetus has defects. The result of triple blood testing may indicate:

• the presence of excess chromosome in the embryo (trisomy);
• edwards syndrome with numerous abnormal organs for him, development delays;
• heart defects;
• renal pathology;
• intrauterine infections.

If the blood test on hormones showed regulatory deviations, then the future mother will have to undergo an additional examination. To accurately establish the nature of pathology capable of exclusively invasive methods of diagnosis. Only with their help are the hereditary diseases of the embryo. Conduct invasive diagnostic procedures, as well as any invasion of a pregnant woman, is associated with a certain risk. However, it is possible to obtain reliable information about the state of the fetus.

Invasive genetic diagnostics

If the ultrasound determined the deviation and came the positive results of triple analysis to genetics, during pregnancy, they are examined with the use of invasive techniques. This implies a fence of "internal material" for chromosomal analysis. Conducting procedures requires an invasion of a female organism.

The diagnostic methods of invasive type include:

Analyzes that read genetic information make it possible to diagnose serious diseases of the fetus. When identifying hereditary anomalies, which can become an obstacle for the normal development and socialization of the baby, parents receive the right to solve the fate of pregnancy on any time. In some pathologies identified by genetic studies, prenatal therapy can be carried out. It reduces the risks of the occurrence of complications conjugate with hereditary disease.

Hidden hazards invasive procedures

Invasive diagnostic methods involve certain risks. Any interference in the body of the future mother is undesirable. Ultrasound and triple test determine risk pregnancy. They do not give the opportunity to put an accurate diagnosis. Only invasive diagnosis can reveal the hereditary anomaly in the fetus. After confirmation of the diagnosis, the family will be able to collect more information about pathology and take a weighted decision regarding pregnancy. Parents who are not ready to interrupt pregnancy under no circumstances, also need time to get enough idea about the birth of an unhealthy baby.

Invasive prenatal diagnostics are not widely used. Due to the high risks of complications, the procedures are carried out according to special testimony. To the risks of analyzes requiring invasive material fence include:

• infection of the embryo or future mother;
• discontinuation of the placenta;
• miscarriage;
• the outpouring of spindle water.

Future parents must be aware of the risks of conducting specific diagnostic procedures. However, if at a primary screening, a suspicion of a genetic disease arose, then it is possible to put an accurate diagnosis using additional analyzes. To minimize the risks of possible complications after invasive procedures, you need to properly choose a doctor and a laboratory where tests will be conducted.

The birth of a child is a joyful event for parents and close families. But not always the pregnancy proceeds well and without complications. Recently, more and more genetic diseases are observed. This is influenced by numerous factors.

You can prevent child diseases

Heredity plays a huge role in the formation of a person. We all borrowed what courses appearance, nature and peculiarities of health from their parents, grandparents from different generations.

Genetics - Science, which is engaged in the study of the mechanisms of inheritance diseases. Currently, pregnant women are encouraged to undergo a survey from genetics to exclude pathology or to identify in a timely manner. How does this procedure happen and is it important?

The importance of genetic advice during pregnancy

Popularity This procedure has acquired in the last century because science has stepped far and the opportunity to diagnose diseases that are inherited or occur due to a number of other reasons, intrauterine. Each parents worries the health of the future kid, so the survey is relevant, especially for couples, where the high risk of pathologies. For example, if someone from partners suffers from epilepsy, hemophilia, asthma, diabetes and other severe diseases.

When planning pregnancy, many couples come to a consultation to genetics in advance to exclude problems, but to make the procedure no later and when there is a conception.

Consultation with a genetic specialist is necessary to make sure the health of the baby, identify the predisposition to one or another diseases, or identify existing mutations and pathology.

This procedure is in free access and parents at any time can make an appointment and survey. During the conversation, be sure to tell about the reasons, possible suspicions and pass the appropriate analyzes.

Women from risk group

As with any other cases, there is a risk group, which includes the girlfriends:

1. Aged 35 years. Patients have a high level of danger of the appearance of a child with deviations.
2. With relatives that suffer from hereditary diseases.
3. With anamnesis with several miscarriages, the birth of dead children, infertility.
4. If the pair is blood relatives.
5. Contact women with aggressive poisonous substances, radiation irradiation or chemical impact.
6. The presence of children with chromosomal pathologies.
7. Women with diseases of the endocrine system.
8. Multiple pregnancy.

Additional reasons for conducting

Additional factors for the purpose of the procedure are negative analyzes, perinatal screening indicators, or their own desire for pregnant. Transferred diseases during the nesting period of the baby and the reception of medicines that may adversely affect the health of the fetus.

What does the doctor do a genetics during pregnancy

The procedure is carried out with two ways:

1. Non-invasive - Woman passes Ultrasound, gives a biochemical blood test for markers.
2. Invasive - implies penetration into the uterus in the cavity, where materials for the survey are taken to identify the karyotype of the fetus. The biopsy of chorion, amneenocentsis, placentocentsis, cordocentsis is used. There is a fence of cells from placenta, umbilical umbilicals, accumulating waters and blood of the fetus. These procedures are allowed only on the rigorous prescription of the doctor and in stationary conditions, at the end of the manipulation, the woman needs some time to come in order.

Three threats are distinguished for a child:

1. The probability of 10% is the indicator means that there is no danger to the health of the baby.
2. The value from 10% to 20% is the likelihood of the emergence of a healthy child and with diseases of the same. This result requires further surveys to reveal the exact risk.
3. Above 20% - the possibility of conception of the baby without pathologies is not available, the ECO procedure is recommended for nulling a healthy child.

Particular attention to women with complex and multiple pregnancy. For example, patients with diabetes mellitus necessarily take the analysis of blood glucose content (glucose-beadless test), protein and hepatic enzymes.

It is not necessary to ignore the procedure of genetic research even if there is no reason for excitement and ailments during the rigging of the child.

The main danger of chromosomal deviations is that in most people they are absolutely not manifested and there are no symptoms. The genetic disease can be manifested even after a few generations, so it is important to consult and pass the tests to make sure that the baby has no problems.

Despite the high level of medicine, there is a percentage of error. There are cases when experts revealed mutations with which the child is not viable, but a woman appeared a healthy kid. However, such an outcome has a small proportion.

What time is the consultation of a doctor of genetics during pregnancy

The first survey is usually prescribed at the end of the first trimester - 10-12 weeks. If the results are excellent, does not require additional analyzes, then the next consultation passes after 20 weeks.

Then the test study is made in a period of 30-32 weeks of pregnancy. With complex pregnancy and possible threats, the admission of genetics can be carried out on other times.

After the birth of the child, the blood is taken from the fingers on the legs of the newborn for the presence of pathologies.

Genetic examination identifies problems with 85% of the probability.

The current ecology and rhythm of people's lives does not have a very favorable affects health. Therefore, in order to conceive and give birth to a healthy child without pathologies, it is strongly recommended by experts to visit the genetics physician before planning.

Useful video

Genetics is based on the experience of past years, knowledge of present and confidence in the future. The once controversial science, whose representatives had more questions than answers to them, today received absolute recognition of the entire world community. A unique theoretical and practical base on the issue of heredity worked out over the past decades is available today to everyone in the form of a real service. Of particular importance is genetics in the field of family planning.

Genetic analyzes in pregnancy planning are not a luxury, but rational foresight. In the presence of a real possibility to determine the genetic tendency of the embryo (fetus) to a particular disease, it does not take advantage of this. Is that lazy. Unfortunately, many future parents do not think about the need for such analyzes and recall the genetics when "pitfalls" are found during pregnancy. Why need a genetic blood test during pregnancy, let's talk in the article.

The gene is a unit of hereditary structure in which information about the individual characteristics of a person is encoded: its character, face features, color of iris, etc. Each of us is the owner of certain genes contained in the set of 46 chromosomes. When conception, the maternal and father's sets of chromosomes are connected - such a "legacy" receives a future child from his parents. When chromosomes are damaged, "breakdown" arises in the genetic structure, which is the result of one or other pathology. This, of course, cannot but affect the quality of the physical and mental development of the baby. In order to detect and prevent such pathology on time during the child's waiting, the future mommy gives blood for genetic analysis.

Why do you need a genetic analysis

Studies based on genetic analysis methods pursue the following objectives:

1. Assist on genetic compatibility - so you can establish a fact of paternity, motherhood or blood kinship between people.
2. Confirm or refute the hereditary predisposition of the patient to various severe diseases.
3. Calculate traces of DNA of infectious pathogens who served as the cause of the development of a particular disease.
4. Create a genetic personality passport.

The definition of genetic compatibility is more known as DNA analysis or paternity test. For this procedure, special testimony is not needed, just the desires of the child's parents. DNA analysis is most often becoming relevant during the divorce or property section. By the way, it is possible to identify the kinship of a child during his intrauterine life during pregnancy.

The indisputable advantage of genetic analysis to various diseases is its accuracy. The procedure guarantees 100% result. With it, it is possible to determine the predisposition of the baby to a number of potential diseases, among which they are listed:

1. Arterial hypertension.
2. Myocardial infarction.
3. Thrombosis.
4. Diabetes.
5. Bone fabric dystrophy.
6. Various heavy stomach and intestines.
7. Pathology of the broncho-pulmonary apparatus.
8. Diseases of the thyroid gland.

If you do not miss the moment and carry out a genetic analysis during pregnancy at the right time, you can detect those or other deviations from the fetus. In some situations, possessing sufficient information about violation in the development of the baby, this problem is really fixed and ensuring pregnancy a safe current. Not all pathogens of severe infectious diseases can be detected using traditional diagnostic methods. Then, genetic analysis comes to the rescue, and the doctors have a real opportunity to most promptly identify DNA of infectious microorganisms in the body of a sick person and get a maximum of information about them to find the right treatment. Heavy pathologies, such as, for example, Down syndrome, Edwards syndrome, in early stages of pregnancy are also detected by genetic analysis.

Based on the findings of specialists, a genetic personality passport is created, which contains a detailed picture of a combined analysis of human DNA. This document is of paramount importance for the patient, as it can come in handy throughout life if any health problems arise.

Who is shown genetic analysis

It is not necessary to take blood for research in a genetic laboratory, but in most cases chromosomal analysis becomes a guarantee of the calm of the future mother throughout the pregnancy. It is mandatory to go through this procedure necessary to women who have reason to fear that their child can be born with those or other hereditary deviations. Let's see what can serve this reason:

• in the family of one or two parents, in the past there were cases of birth of children with mutations, lags in development or congenital pathologies;
• future mom for more than 35 years, and the father more than 50. Late pregnancy is always conjugate with the risk of developing severe gene mutations;
• in the past, pregnant was dependent on bad habits in the form of alcohol use, drugs or a long time was forced to take medicines;
• being in position, the woman fell ill with infectious disease;
• in the past, pregnant has had the sad experience of spontaneous miscarriage or stilling.

Genetic analyzes after measuring pregnancy

Unfortunately, not in our power to predict and prevent all the misfortunes that lives for us. Especially acute understands this woman who suffered a frasonal pregnancy. How can genetics help in this case?

About frozen pregnancy say when the development of the embryo suddenly stops in the early period of gestation (as a rule, up to 12 to 13 weeks of pregnancy). Such a turn of events most often occurs in pregnant women older than 40 years, however, not a single girl / woman of childbearing age is not insured against this pathology.

In most cases, the frozen pregnancy is explained by the genetic anomalies of the fetus, although this is not the only cause of pathology. Sometimes representatives of infectious diseases are to blame for the fetal death: Herpes, chlamydia, toxoplasmosis. Nevertheless, almost 70% of silence of up to 8 weeks of pregnancy are associated with chromosomal disorders from the fetus. The main feature of genetic deviations is their early manifestation, and many of them make a state of a kid incompatible with life. Such genetic "catastrophes" can occur due to the unsuccessful connection of parental genes, but sometimes chromosome with genetic breakdowns transmit parents themselves. There is an opinion that if a frozen pregnancy happens for a woman not for the first time, then its reason is likely to be a genetic nature factor. However, this is 100% scientists not taken.

After misfortune, most couples do not surrender - they are decided to try happiness again. In order to protect a woman from repeating an unsuccessful scenario for the development of pregnancy, doctors prescribe a number of analyzes with which the causes of previous undivided pregnancy should be established. Among them is necessarily a chromosomal blood test. It is necessary to make it certainly, especially if the woman has already noted its 35th anniversary, in her history there is a mark on hereditary diseases in the family or a frozen pregnancy was not the first in her biography.

Of course, young healthy couples really want to believe that the misfortune occurred on an unsuccessful coincidence, and it was not predetermined by chromosomal "games", but it is better to make sure the help of genetic analysis. Only with detailed information on the state of the health of future parents, the doctor will be able to help them.

Methods for conducting genetic research

There is a non-invasive and invasive genetic examination.

Non-invasive research method

The study of this nature is considered the first step in the genetic "investigation". It consists of the following procedures:

• biochemical blood test;

The chromosomal blood test of the patient in the position is carried out, focusing on the change in the concentration of some proteins in the blood of a pregnant woman with the appearance in its embryo body. Certain coefficients of these substances are indicative of different violations (here refers to Down syndrome). When pregnancy proceeds satisfactorily, protein concentration in its body varies naturally, so during genetic analysis necessarily take into account the "age" of the fetus.

The ultrasound procedure measure the size of the space of the collar zone of the child, which is filled with liquid. This value is directly interconnected with the risk of Dauna syndrome. Excessive fluid volume (in other words, swelling) indicates possible pathology and deviations in the development of the baby.

The first ultrasound is carried out on the period of pregnancy 10 - 14 weeks. Already at this stage, the doctor can diagnose violations of intrauterine development, if any. The results of chromosomal analysis and possible risks for the fetus are estimated on the basis of all the parameters under study: the volume of fluid in the collar zone, data analysis to the level of proteins in the blood of the future mother, as well as its age.

The earlier genetic analyzes were carried out, the sooner the pathological changes in the child's body were detected, due to breakage of the chromosomal set. If during a genetic study it turned out that the child has a predisposition to one or another genetic deviation, the examination will certainly continue. Do it with the help of invasive methods.

Invasive research methods

With the help of invasive methods, it is possible to identify about 400 species from the norm at the fetus. Invasive research methods are considered:

• amniocense. The material for this procedure, which is carried out on the 15th - 18 week of pregnancy, serve by spindle water. The fence of amniotic fluid produces, piercing the uterus using a long needle;
• chorion's biopsy. In the course of the procedure, cells are studied, which are material to create a placenta. The material fence is produced by piercing the abdominal cavity or through the cervix. However, the method has one significant disadvantage - it increases the risk of spontaneous miscarriage;
• placentopentinez. The method is relevant after the infectious disease suffered by the future mother. In this case, the cells are examined from which the fabric of the placenta. The procedure is prescribed in the second trimester of pregnancy and are carried out under general anesthesia: through the puncture of the front abdominal walls take a small piece of the placenta to analyze;
• cordocennez. For this study requires umbilical blood. For the intake of biological material, a thin long needle is introduced into the umbilical cord. The method is associated with some risk: not always attempts to take blood are crowned with success, besides there is a risk of miscarriage.

The norm and deviation of genetic analysis during pregnancy

There are borderline indicators of chromosomal analysis in pregnant women with which the doctor judges how well the baby and whether it is developing correctly:

1. High risk - 1: 200. Future mom is sent to an additional diagnostic examination. The material for the analysis is a porcelain chorion or spindle water.
2. The average degree of danger - from 1: 201 to 1: 3000. At the same time, the patient is prescribed additional screening from 16 to 18 weeks of gestation. This study may confirm either refute the likely threat to the development of the fetus.
3. Low risk degree is less than 1: 3001. This indicator suggests that there is nothing to worry about the future mother: no genetic deviations are threatened with her baby.

Genetic analysis during pregnancy. Video