Why should a pregnant woman go to a geneticist? Visiting a geneticist during pregnancy

Not all people know that they are sick and pass on their illnesses to inheritance. Genetics plays almost the most important role during pregnancy important role during fetal development. For this reason, a woman should take care of a high-quality medical and genetic examination in advance - even before conceiving the baby and before his birth.

Genetics: what is it?

First of all, it is worth noting that genetics is a whole separate science about heredity. She walked in her own historical development quite a difficult path, but medical scientists in the last century still made a breakthrough - they created genetic tests that make it possible to identify genes that are the causes of many hereditary congenital diseases. This has given doctors the opportunity to competently diagnose many dangerous hereditary diseases even before the baby is conceived. And continue to examine the fetus (do screening) after pregnancy, starting from the 1st trimester.

Every family planning a pregnancy consciously is concerned, first of all, with the health of their unborn baby. For this reason, future parents are increasingly turning to specialists for advice about possible genetic diseases.

Who is at risk?

There is a concept called genetic risk, and it concerns that category of people who have a high probability of having a baby with any hereditary diseases.

The risk group includes:

married couples who have certain family hereditary diseases;
all kinds of consanguineous marriages;
those girls/women who have an unfavorable medical history (if they had repeated miscarriages, they gave birth to a stillborn child, if they suffer from infertility, and medical reasons have not been established;
women who are exposed to adverse factors: prolonged contact with various chemicals harmful substances, radiation, use of drugs during the period of conception, which can cause defects in the fetus;
persons under 18 and over 35 years of age, as well as men whose age exceeds forty years, since it is at this age that the risk of mutations in genes slightly increases.

Experts note that neither a preliminary examination before conceiving a child nor screening in the 1st trimester should under any circumstances be ignored, both by the woman herself and by doctors.

As a rule, doctors prescribe additional tests for future parents who are at risk in order to avoid inheritance of any disease. Others can undergo a genetic test if they wish.

Consultation with a geneticist in early pregnancy

The 1st trimester of pregnancy is considered the most important and vulnerable period of fetal formation. A variety of unfavorable situations can potentially disrupt the normal development of the baby’s organs. For this reason, consultation with a geneticist is necessary, first of all, for those girls who, in the 1st trimester of pregnancy:

suffered from ARVI, influenza, chickenpox, influenza, hepatitis, herpes, or were HIV-infected;
were treated with drugs whose annotations stated that they were “contraindicated during pregnancy”;
did fluorography;
drank alcohol, smoked, took drugs;
treated teeth with an x-ray examination;
sunbathed, got piercings, went mountain climbing, rode horseback, diving, dyed their hair.

How does a consultation usually take place?

To receive medical genetic counseling, the doctor needs to provide information about both families of the future parents. The specialist examines not only the results shown by screening during the 1st trimester, but conditions/factors that could potentially be dangerous for your unborn child: diseases of both parents, drugs they use medical supplies, their way of life, environmental factor and professions.

Of course, patients will have to prepare in advance for visiting a doctor:

It is necessary to remember what diseases the relatives previously suffered from, whether there were cases of multiple miscarriages, infertility, stillbirths or children with developmental defects in the family. In addition, it is important to know whether your relatives and your husband's relatives have any history of consanguinity or any mental illness.
When visiting a doctor, you need to take with you your medical records and all the results of any examinations you have ever undergone.

The geneticist will study all the information provided by the patient and, if necessary, send for additional tests. Such tests are carried out during the 1st trimester and include:

blood test (biochemical);
conclusions of an endocrinologist, therapist, and neurologist;
karyotype study (both the quantity and quality of chromosomes of both future parents are determined).

Diagnosis of possible fetal malformations

IN last years Doctors use a research method called screening. The study should be carried out on absolutely all pregnant women in order to identify risk groups. Doctors send women for examination as early as 1 trimmeter of their pregnancy.

Screening methods include:

Ultrasound of the fetus.
Accurate determination of all biochemical markers (hereinafter referred to as BM) in the mother’s blood serum. IN

in the 1st trimester these are plasma protein A (PAPP-A), associated directly with pregnancy, and human gonadotropin (chorionic, hereinafter referred to as hCG). After the first trimester, a pregnant woman already has alpha-fetoprotein (hereinafter referred to as AFP), estriol and hCG.

In the 1st trimester in the clinic, the study of BM is carried out from the 8th to the 12th or even 13th week of pregnancy (this is prenatal early screening), and in the 2nd trimester - from the 16th to 20th week of pregnancy (this is prenatal triple test or, as many doctors call it, late screening).

Perinatal diagnostics: features of such procedures

Perinatal diagnostics (both early and late screening) is an intrauterine examination of the unborn baby - it is aimed at identifying developmental defects and hereditary diseases in the fetus. Experts distinguish two types of such diagnostics.

A geneticist is a medical specialist who studies hereditary diseases. It is necessary to visit a geneticist’s office before planning a pregnancy. If a married couple has not made a visit to the doctor in advance, then future parents should definitely make an appointment, especially in cases of possible risk of having a child with hereditary diseases.

Cases when consultations with a geneticist are mandatory

Let us name several reasons why an obstetrician-gynecologist issues a referral for a pregnant woman to be examined by a geneticist:

1. If the previous child was born with hereditary diseases or developmental defects.

2. If one of the spouses has a hereditary disease or developmental defect.

3. If the father is over 40 years old or the mother is over 35 years old.

4. In consanguineous marriages.

5. Negative impact environment V early stages pregnancy.

6. Taking medications in the early stages of pregnancy.

7. If there is a threat of early miscarriage or termination of pregnancy.

8. In cases of stillbirth, spontaneous miscarriages.

Having received the results, completed tests, and after an interview with the young couple, the geneticist determines the degree of genetic risk specifically for each married couple. Genetic risk is the likelihood of certain hereditary diseases manifesting in a married couple or genetic pathologies in the fetus. The possibility of risk is calculated on the basis of analysis data and on the basis of an analysis of genetic patterns. The ability to accurately determine the presence of genetic risk depends on the completeness and reliability of genealogical data (data about spouses and their relatives) and on the accuracy of the diagnosis. Therefore, a married couple referred to a geneticist must carefully prepare for the consultation and be sure to remember what hereditary diseases the relatives of the wife and husband suffered from.

Low genetic risk is considered to be up to 5%. A risk of 6 to 20% is average, and married couple It is recommended to undergo the “prenatal diagnosis” method. In cases of high risk, more than 20%, it is mandatory for future parents to undergo the “prenatal diagnosis” method.

Methods for examining a pregnant woman with a geneticist

When counseling, a geneticist is used various methods examinations of the pregnant woman and her relatives, which depend on their hereditary diseases. The main ones are clinical-genealogical, cytogenetic, biochemical, molecular genetic (DNA analysis), immunological studies and prenatal diagnostic methods.

The clinical-genealogical method is a method of collecting and analyzing a pedigree, which allows you to find out the information necessary to establish the causes of the disease and make a diagnosis.

The cytogenetic method is used to study the human chromosome set (karyotype). Karyotype examination is carried out for women suffering from the absence of menstruation (primary amenorrhea), women with miscarriage, who have had early stillbirths or children who died for unknown reasons at an early age, parents who already have children with mental retardation or developmental defects.

Prenatal diagnostic methods contribute to the formulation of an unambiguous prognosis of genetic pathology of the fetus, and increase the effectiveness of genetic counseling. There are two groups of prenatal diagnostic methods: non-invasive and invasive.

Not surgical methods prenatal diagnostics (non-invasive) can be used to examine all pregnant women. These include: ultrasound examination in the first and second trimesters of pregnancy, determination of human chorionic gonadotropin, alpha-fetoprotein and unconjugated estriol in maternal blood serum in the second trimester of pregnancy, determination of intrauterine infection.

— Important place In non-invasive diagnostics, ultrasound examination (ultrasound) is preferred. There is a direct relationship between the type of defect and the time it is detected by ultrasound. Some malformations can be diagnosed only at the end of the first - beginning of the second trimester of pregnancy. For example, brain defects, undivided fetuses, polycystic kidney disease, abdominal wall hernias, spinal or cranial hernias, etc. For timely and high-quality diagnosis of genetic pathologies of the fetus, an ultrasound examination of all systems and organs of the fetus must undergo: for all pregnant women at least 3 times throughout pregnancy (at 10-12, 20-22 and 30-32 weeks), and if necessary, for example, if a malformation is suspected - every 3-4 weeks. The accuracy of diagnosing malformations by the end of the second trimester of pregnancy approaches 100%. The accuracy of diagnosis in the high-risk group is 90%, for congenital fetal defects - 87%.

— Non-invasive diagnostics include methods for determining biologically active substances produced by the placenta in blood serum (for example, alpha-fetoprotein). Such tests are carried out at 16-20 weeks of pregnancy. In cases of changes in the content of alpha-fetoprotein in the blood serum, they speak of a possible risk of chromosomal pathology, the development of a defect nervous system fetus (spinal cord cleft or anencephaly - absence of the brain). Any of these diagnoses must be clarified using ultrasound.

For surgical methods (invasive), several fetal cells are taken for testing.

— In the early stages of pregnancy, a chorionic villus biopsy is used, from which the placenta is subsequently formed. For this purpose, they make a puncture in the anterior abdominal wall of the amniotic sac and remove small area chorion For analysis optimal time 8-11 weeks of pregnancy.

Chorion tissue analysis is carried out in the following cases:

1. Change in the chromosome set (karyotype) of one of the parents,

2. The presence in the family of a child with chromosomal pathology, metabolic disorders, sex-linked diseases (for example, hemophilia), hemoglobinopathies.

3. If the mother is over 35 years old.

- In some cases (for example, in the second trimester of pregnancy), placental tissue is taken for diagnosis using placentocentesis (an analysis similar to chorionic villus biopsy). The indications for placentocentesis are the same as for chorionic villus biopsy.

— Sampling and analysis of amniotic fluid (amniocentesis) in the second trimester of pregnancy is the most preferred method of prenatal diagnosis. The desired period for it is 17-20 weeks of pregnancy. By examining the amniotic fluid, it is possible to determine the level of various hormones and enzymes, alpha-fetoprotein, and the karyotype of the fetus. By conducting a DNA analysis, it is possible to diagnose some inherited, sex-linked and autosomal recessive diseases, chromosomal pathology of the fetus, and many malformations of the central nervous system.

— By examining fetal blood from the vessels of the umbilical cord (cordocentesis), hereditary blood diseases, immunodeficiency states, metabolic disorders, intrauterine infection of the fetus are determined, and the karyotype (chromosomal set) of the fetus is determined. The analysis is carried out starting from the 17th week of pregnancy.

— In the second trimester of pregnancy, a fetal skin biopsy is also possible for diagnostic purposes possible diseases skin.

- However, even in the first trimester of pregnancy, but not earlier than five weeks after conception, it is possible to carry out embryoscopy (from the Greek embryon - embryo, skopeo - look). For this, a special fiber-optic endoscope (flexible optical fibers) is used, which is inserted into the cervix. This method evaluates the blood circulation of the fetus, and also directly monitors the condition of the embryo to diagnose possible disorders of its development.

As a disadvantage invasive methods diagnostics, one can note the possible occurrence of various complications, including termination of pregnancy. In this regard, a geneticist recommends them only in cases of high risk of genetic pathology of the fetus.

There are no small details during pregnancy. Even minor discomfort can have undesirable consequences. Therefore, it is so important for a woman to exclude negative phenomena, which can affect the development of the unborn child, as well as undergo necessary examinations to avoid unpleasant surprises after childbirth.

Why do you need genetic counseling?

Modern medical science makes it possible to identify most of all possible problems with a baby’s health even during the period intrauterine development. First of all, we are talking about an ultrasound examination of the fetus, which, as a rule, is performed three times during pregnancy: in the first, second and third trimesters. During the examination, the specialist will evaluate not only the condition of the fetus and the compliance of its basic parameters existing standards, but will also be able to determine the presence of genetic pathologies. Moreover, many of these deviations are hereditary. Others may be caused by the influence of a polluted environment, previous diseases, or incorrect behavior of the expectant mother (taking medications prohibited during pregnancy, smoking, drinking alcohol). To clarify possible threats and their health consequences little man, pregnant women are often referred to see a special specialist. And they are interested in why consultation with a geneticist is needed during pregnancy, and what they do there.

This specialist studies hereditary diseases, as well as the role of genetics in the development of various pathologies. It is ideal to visit this doctor at the stage of pregnancy planning. Having examined the future parents and studied their “medical” history, the doctor will be able to predict what kind of ailments future baby may inherit from them or other relatives. Such preliminary consultation, as well as additional research will help prevent possible pathologies.

A visit to this specialist is necessary for couples who have had problems conceiving for a long time. After all, one of the reasons for such infertility may be genetic problems of one or both parents.

A geneticist can help figure out the cause of miscarriages; sometimes miscarriages can be due to genetic problems.

If one of the future parents or a member of their family has a genetic disease or any physical abnormality, then you also need to visit a geneticist at the stage of pregnancy planning.

Women who decide to have a child at an older age are also at risk. They would also benefit from a visit to such a specialist. According to statistics, in women over 35 years of age, the risk of having a child with a pathology increases three times, compared with mothers younger age. The age of the father is also important: if he is over 40, then it is worth visiting a geneticist at the stage of planning pregnancy or after its onset.

It is no secret that in the absence of visible serious problems Most expectant parents turn to doctors after conception. In such a situation, who necessarily needs consultation and examination with a geneticist? Mainly for those mothers who took potent medications or psychotropic substances in the first three months of pregnancy (sometimes a woman undergoes treatment without knowing about her situation). Also for women who decide to give birth after 35 years. For mothers who already have children with any pathologies. Women who are Everyday life have contact with any hazardous chemicals or who live in a contaminated area. If the doctor suspects a pregnant woman has any serious infection (rubella, toxoplasmosis) that can affect the development of the fetus, she will be referred to a geneticist.

A visit to this specialist is also necessary if the future parents are blood relatives.

In addition, all pregnant women after the first ultrasound examination (at 11-12 weeks) are recommended to take an additional blood test: based on biochemical markers, the doctor can draw a conclusion about possible pathologies of the fetus.

How does an appointment with a geneticist work?

Expectant parents should go together to see a doctor, having previously prepared and taking with them medical records and test data. After all, the specialist, first of all, will have to obtain information about all serious and hereditary illnesses in the family. After this, the doctor will prescribe additional studies and draw conclusions and predictions based on their results.

What questions does a geneticist ask a pregnant woman?

First of all, the doctor will ask whether the future parents and their close relatives have any physical abnormalities. What serious illnesses did they suffer, what illnesses did their parents and grandparents suffer from? Are there any hereditary diseases or genetic abnormalities in the family? Perhaps one of the future parents already has a child with pathologies.

If changes in the development of the older child occurred due to circumstances during the intrauterine period (previous infection, trauma, and so on), then the new pregnancy can proceed without complications and the development of pathologies.

Methods of genetic research in pregnant women

The main tests that a geneticist will prescribe for a pregnant woman are an ultrasound of the fetus and a blood test of the mother, which will determine biochemical markers that signal the possibility of developing any pathology. These are so-called non-invasive methods, they are safe for both the woman and the unborn baby.

Some developmental disorders can be diagnosed using ultrasound examination of the fetus only at the end of the first - at the beginning of the second trimester. For example, brain defects, spinal or cranial hernias, polycystic kidney disease. Therefore, all pregnant women are prescribed an ultrasound scan every trimester. The specialist studies the size of the fetus and its compliance with existing standards. If there is a suspicion of the development of pathology, then such an examination can be carried out every three weeks, supplemented with special tests.

In some cases, when there is a suspicion of the development of dangerous pathologies, invasive (surgical) research methods may be recommended. Using special manipulations, fetal cells are obtained for further analysis.

In the first trimester, a biopsy of the chorion (the membrane of the embryo from which the placenta is subsequently formed) may be prescribed. To do this, a small puncture is made in the anterior abdominal wall and amniotic sac and a small piece of chorion tissue is removed. Its genetic makeup is the same as that of the fetus. If there are mutations in the tissues of the chorion, then a similar process occurs in the child.

In the second trimester, amniocentesis (examination of amniotic fluid) or placentocentesis (analysis of placental tissue, similar to chorionic villus sampling) may be performed. After the 17th week, cordocentesis may be prescribed (examination of blood from the vessels of the umbilical cord). This analysis allows you to identify blood diseases, metabolic disorders, immunodeficiency, and also determines the karyotype (chromosome set) of the fetus.

Surgical methods pose a risk to the fetus and can lead to miscarriage. Therefore, they are recommended only in extreme cases, when there is a suspicion of serious anomalies in the baby’s development.

Especially for - Ksenia Boyko

Today, a consultation with a geneticist rather causes concern among parents, in case something goes wrong in the development of the unborn baby. During pregnancy, only 20% of families seek advice. Some are afraid to hear a terrible verdict, others prefer not to know anything in advance, while others console themselves with the fact that genetic diseases are very rare. Of course, the risk of genetic diseases can be reduced to a minimum by visiting a doctor before conceiving a baby. When the fact of pregnancy is already present, the gynecologist prescribes a genetic test during pregnancy. Moreover, such an examination is one of the most informative and important.

Why get tested?

Heredity is like a lottery. Healthy parents quite often give birth to a seriously ill child. Everyone has a risk, although very small. The reason is always the same - a mutation in chromosomes or genes.

Chromosomal mutations are changes in the number of chromosomes in a cell. Errors in the chromosome set are often incompatible with the life of the unborn child. Since from time immemorial nature leaves the strongest, women experience miscarriages, sometimes repeated, and often birth dead child. But sometimes such gene “errors” lead to the birth of a baby with severe pathologies. The most famous all over the world is Down syndrome.

Genetic abnormalities are associated with changes in the structure of DNA molecules. It is impossible to determine with a quick glance that a child was born with a mutated gene. This will certainly manifest itself over time, especially if the baby is not just a carrier of such a hereditary disease.

There are about 3,500 such diseases in total. They account for 2% of all humanity. For example, only 1 in 1,200 babies are born with cystic fibrosis. That is why it is so important to undergo an examination prescribed by a doctor. Only based on the results of the inspection can further decisions be made.

High risk group

Genetic testing during pregnancy is mandatory for women who are at high risk of having a child with a developmental anomaly due to certain circumstances:

women after 35 and men after 40 years. The risk of chromosomal and gene mutations increases significantly with age;
there were already genetic diseases in the family;
marriage with a close relative;
one of the children in the family has already been born with a genetic pathology;
previous pregnancies ended in miscarriage, fetal loss or stillbirth.
women who abuse alcohol and drugs before and during pregnancy;
the current pregnancy is burdened by a serious infectious disease;

Genetic control methods

During pregnancy, prenatal screening, which is carried out twice, allows you to “catch” the risk of genetic pathologies. The fetus and placenta produce specific proteins. If there is a genetic or chromosomal pathology in the body, the level of these proteins changes.

The first screening is carried out from 11 to 13 weeks of pregnancy. Such a genetic analysis during pregnancy reveals Down and Edwards syndrome - diseases manifested by mental retardation and developmental anomalies internal organs, determines gross malformations of the central nervous system. It is carried out in two stages:

Ultrasound. During the examination, the doctor may see a thickened collar area or not see the nasal bone.
Genetic blood test during pregnancy. It is taken from a vein and is called a “double test”, since the risk of chromosomal abnormalities is determined by two markers: beta - hCG, a protein produced by the membrane of the embryo, and PAPP-A - a blood plasma protein. With increased indicators of the first and decreased data of the second, we can talk about the presence of a genetic pathology on the part of the fetus.

From 15 to 18 weeks, the pregnant woman undergoes a second screening. A blood test determines the presence of gene mutations using three markers - hCG, AFP and estriol. Indicators of a certain concentration of these substances in the blood of a pregnant woman suggest the risk of developing a neural tube defect - a malformation of the spinal canal or brain.

With this type of study, the doctor first of all pays attention to the AFP indicator - a protein produced by the organs of the gastrointestinal tract and the fetal liver.

The doctor determines the final screening result using a combination of ultrasound and blood tests.

Many expectant mothers, having received the results, experience stress when they see deviations from the norm. This may have absolutely nothing to do with the deformities of the unborn child. So the results are often unreliable if the pregnancy is multiple, the mother overweight or, conversely, its lack, the presence diabetes mellitus and other chronic diseases. Even an incorrectly calculated gestational age can cause confusion in the results.

Preparing for screening

Blood for research is taken from a vein in the morning on an empty stomach or no earlier than 5 hours after the last meal.

Additional expertise

When a doctor has significant reasons to suspect a pathology on the genetic side, he directs expectant mother for additional examinations. They will either confirm or refute the previously made diagnosis. But even here it’s not worth talking about 90% accuracy.

Chorionic villus biopsy. It is carried out from 11 to 13 weeks. Using a special syringe with a long needle, a sample is taken from the membrane of the fertilized egg. The sample is taken through the cervix.

Amniocentesis. Recommended after 15 weeks. A sample of amniotic fluid is taken under the control of an ultrasound probe.
Taking fetal umbilical cord puncture. The woman is examined from 22 to 25 weeks of pregnancy.

The big disadvantage of such studies is that they can provoke a miscarriage or bleeding, since to conduct them doctors have to invade the fragile union of the placenta and the fetus.

Diagnosis of pathologies using maternal blood. Fetal DNA is isolated from the blood and tested for chromosomal abnormalities. Such testing for genetic diseases in pregnant women can begin at 6 weeks. The result is ready within two weeks. To date, this is the most accurate and early examination method.

Deciphering all analyzes is the job of a specialist. But no one will be able to give you specific recommendations if, after many checks and rechecks, the risk of having a child with irreversible changes in the body is still high. It's personal and pretty difficult decision must be accepted by you, your husband and those close to you. Before you accept it, you will have to weigh a lot and reconsider your entire life. You have no right to make a mistake with your wrong choice.

Genetics is a science that studies heredity and changes occurring in genes.

With this science you can learn a lot of new and interesting things about your heredity, about what kind of children can be born when certain genes are combined, it explains the nature of many existing diseases and warns against future ones.

But if throughout our lives we do not think about our genes, diseases, heredity, then During pregnancy or planning conception, every mother begins to think about the health of her unborn baby.

What parent would want their child to be sick, and even more so to carry hereditary diseases?

Many parents have chronic diseases (epilepsy, asthma, hemophilia, etc.), but this does not mean that they do not want to start a family and have children.

Such parents are afraid that their children will be susceptible to the same terrible diseases. Not every family, having a burdened heredity, will decide to give birth to a child.

But what to do if a woman is already pregnant? Exactly genetics answers many questions, which concern every person who wants to have healthy and full-fledged children.

Let's take a closer look at what it's for genetic consultation when planning a pregnancy, what it can offer and what problems to solve before conception.

When planning a pregnancy

You can consult a geneticist not only according to indications, but also on your own initiative.

According to indications

There are some married couples for whom genetic consultation is simply necessary, since they are at risk.

Indications:

married couples who have family hereditary diseases;
consanguineous marriages;
women who have a history of unfavorable indicators (several miscarriages, there was a stillborn child, infertility for which no medical reason was identified);
if at least one of the parents was exposed to unfavorable factors (radiation, contact with harmful chemicals, work with toxic substances);
Women under 18 or over 35 are also included in this risk group, since age has a large influence on the risk of mutations in genes.

At your own request

Many young couples have their own problems or just suspicions. Even before conception, at the stage, you can undergo a consultation with a geneticist at your own request.

To do this, you need to make an appointment and tell the doctor about your doubts and suspicions, and state the reason for seeking a consultation.

Must be provided to a doctor detailed information about the life of the couple, their parents and relatives and undergo all tests.

When the results are ready, a geneticist can tell you in more detail O possible risks and problems of future children. It is likely that there will be nothing to fear, and all your doubts will be in vain.

What does a genetic consultation consist of and how does it work?

At the stage of pregnancy planning

At the reception a geneticist compiles and studies the pedigree of a married couple and all conditions that may adversely affect the health of the unborn child (illnesses of spouses, starting from childhood, living conditions, profession and place of work, ecology, medications taken by spouses recently).

Based on the collected data, the geneticist prescribes the necessary examination.

Sufficient for one married couple take a detailed biochemical blood test and consult with the necessary doctors (for example, a therapist, endocrinologist, neurologist), for another couple with an unfavorable history, special examinations are prescribed– karyotype studies (quality and quantity of chromosomes).

For consanguineous marriages, infertility and previous miscarriages HLA TYPING is prescribed.

As a result of the tests obtained and the anamnesis collected geneticist not only makes an individual genetic prognosis for the health of your unborn baby, determines the risk of various diseases, but also gives specific recommendations for pregnancy planning.

Total exists 3 levels of risk:

low- less than 10%, means that a healthy child will be born;
average– 10-20%, means that the birth of both a healthy and a sick child is possible. In such cases, special diagnostics are needed during pregnancy;
high– in this case, the couple has the opportunity to refuse to plan a pregnancy or take advantage.

It is still necessary to take into account that even with a high risk, the birth of a healthy baby is quite possible.

During pregnancy

The long-awaited one has arrived, now you need to think about the health of the already conceived baby.

In the first months of pregnancy, the fetus is developing and can be affected by various unfavorable conditions.

There is a certain risk group, included in which it is simply necessary to undergo a consultation with a geneticist in order to exclude pathological development of the fetus.

Women at risk include:

under the age of 18 or over 35;
having a history of hereditary pathological diseases;
who have previously given birth to a child with disabilities;
smoking, drinking alcohol, drugs;
those who have been ill, at the very beginning of pregnancy, as well as those who have diseases such as, etc.;
taking medications that have contraindications during pregnancy;
who had fluorography or in the early stages of pregnancy;
engaged in dangerous sports: diving, mountaineering, as well as sunbathing, piercing, etc.

Since a woman cannot always find out about pregnancy in the early stages, everyone can be at risk.

Methods of genetic examination of pregnant women are divided into those that are safe for both mother and baby (non-invasive) and invasive (those that can harm the fetus or the pregnant woman).

Non-invasive diagnostic methods

Ultrasound. Previously, it was prescribed only to pregnant women at risk, but now it is prescribed to everyone, since the percentage of children born with pathology has increased.

First ultrasound carried out at 11-12 weeks of pregnancy, second at 20-22 weeks, and third at 30-32 weeks. The method allows to detect serious pathological changes in 85% of cases.

Biochemical screening(blood chemistry).

The mother's blood serum contains biochemical markers (hCG, AFP, PAPP-A, estriol), which must meet the standards at a certain stage of pregnancy. These indicators can help identify changes at the earliest stages.

Most biochemical analysis blood is prescribed for a period from 8 to 12-13 weeks, - 16-20 weeks of pregnancy.

Invasive diagnostic methods

Appointed only according to very strict doctor's instructions, as they can harm the mother and baby and cause complications.

These methods include:

chorionic villus biopsy– collection of part of the cells of the membrane of the fetal egg. This method is used for a period of 11-12 weeks. A puncture is performed through the anterior abdominal wall and cells are taken from the future placenta (chorion);
placentocentesis– Placenta particles are taken for examination. It is carried out at 12-22 weeks of pregnancy. In this case, a puncture is also taken through the anterior abdominal wall or through the vagina under the control of ultrasound sensors. The risk of complications is 3-4%;
amniocentesis– amniotic fluid is taken for examination using a puncture through the anterior abdominal wall. It is carried out at 15-16 weeks of pregnancy. The risk of complications is no more than 1%;
cordocentesis– blood is taken from the fetal umbilical cord for research. Performed after 20 weeks of pregnancy. The risk of complications is very high.

All these research methods carried out with anesthesia, under strict ultrasound control and only according to very strict indications. Their goal is to identify fetal pathology at the earliest stages.

Still, don’t forget that even in the presence of data indicating pathology, there is always the possibility of their being erroneous and the possibility of the birth of a healthy child.

That's why You should not terminate an existing pregnancy without extremely important reasons.. Moreover, if unborn child beloved and long-awaited.