The birth of a new life, is genetics needed during pregnancy. Genetic diagnosis of possible fetal malformations Why are pregnant women sent to the genetics

There are diseases that are transmitted only by inheritance or as a result of chromosomal mutations. In order to exclude the formation of complications, it is necessary to consult a geneticist during pregnancy, it is better to conduct tests at the planning stage in order to take preventive measures in a timely manner.

What is genetics during pregnancy

It should be understood that a consultation with a geneticist during pregnancy is needed not only to determine genetic diseases, but also to diagnose congenital intrauterine malformations, since often chromosomal mutations are detected for the first time. The causes of such pathologies mainly consist in the transferred infectious diseases, as a result of uncontrolled intake of potent medicines, as well as due to the influence of unfavorable environment or chemical and electromagnetic influences.

What does a geneticist do during pregnancy?

Depending on the data obtained during the consultation, the geneticist may prescribe additional studies to study heredity:

• the clinical and genealogical method allows you to collect data on the pedigree of the parents;
• the cytogenetic method of research determines the karyotype or chromosome set;
• ultrasound screening to detect physiological complications in the fetus;
• you will need to donate blood for genetics for biochemical analysis, which helps to determine alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol.

When sent to a geneticist, it must be understood that non-invasive methods do not pose a danger, only with invasive research methods there is a risk of complications. Therefore, the sampling of biological material is always carried out under the control of an ultrasound machine, under the close supervision of medical specialists on an outpatient basis.

Does everyone need to undergo genetics during pregnancy?

Blood for genetics during pregnancy is donated if one of the following factors is present:

• the birth of older children with congenital defects;
• presence genetic pathologies one of the parents;
• alcohol abuse and long-term dependence on drugs and tobacco;
• miscarriages or stillbirths in previous gestational periods.

On present stage development of medicine, it is possible to diagnose up to 300 types of genetic abnormalities, which will allow for prevention or corrective treatment.

Genetics is a science that studies heredity and the changes that occur 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 connected, it explains the nature of many existing diseases and warns against future ones.

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

What parent would like his 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 subject to the same terrible diseases. Not every family, having a burdened heredity, will decide to give birth to a child.

But what if the woman is already pregnant? Exactly genetics answers many questions that excite every person who wants to have healthy and full-fledged children.

Let's take a closer look at why you need genetics consultation when planning a pregnancy, what it can give 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 couples who simply need a genetic consultation, as they enter at risk.

Indications:

• couples who have family hereditary diseases;
• consanguineous marriages;
• women who have a history of unfavorable indicators (several miscarriages, there was a stillborn child, infertility, in which no medical reasons were identified);
• if at least one of the parents was exposed to adverse factors (radiation, contact with harmful chemicals, work with toxic substances);
• women younger than 18 or older than 35 are also in this risk group, since age has a big impact on the risk of gene mutations.

Of your own accord

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

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

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

When the results are ready, a geneticist will be able to elaborate about the 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 is a genetic consultation and how does it work?

At the planning stage of pregnancy

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 (diseases 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 survey.

Enough for one couple take a detailed biochemical blood test and consult with the necessary doctors (for example, a general practitioner, endocrinologist, neuropathologist), for another couple with an unfavorable anamnesis, special examinations are prescribed– karyotype studies (quality and quantity of chromosomes).

With consanguineous marriages, infertility and miscarriages in the past assigned HLA-TYPE.

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

Total exists 3 levels of risk:

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

Nevertheless, it must be borne in mind that even with a high risk, the birth of a healthy baby is quite possible.

During pregnancy

So the long-awaited has come, now you need to think about the health of the already conceived baby.

In the first months of pregnancy, the fetus is formed, and various adverse conditions can affect it.

There is a certain risk group, which simply needs to be consulted by a geneticist in order to exclude the 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 previously gave birth to a child with disabilities;
• smokers, consumed alcohol, drugs;
• ill, at the very beginning of pregnancy, as well as having diseases such as, etc .;
• hosted medical preparations who have contraindications during pregnancy;
• performed fluorography or early dates pregnancy;
• engaged in dangerous species sports: diving, mountain climbing, as well as sunbathing, piercing, etc.

Since a woman cannot always find out about a pregnancy in the early stages, everyone can fall into the risk group.

Methods of genetic examination of pregnant women are divided into safe for both the mother and the 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, as the percentage of births of children 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. By these indicators, changes can be detected at the earliest possible time.

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

Invasive diagnostic methods

Only under very strict doctor's orders because they can harm the mother and baby and cause complications.

These methods include:

• chorion biopsy- sampling of a 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 made through the anterior abdominal wall and cells are taken from the future placenta (chorion);
• placentocentesis- Placental particles are taken for examination. It is carried out at a period of 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 by puncture through the anterior abdominal wall. It is carried out at 15-16 weeks of pregnancy. The risk of complications is not more than 1%;
• cordocentesis- for research, blood is taken from the umbilical cord of the fetus. It is carried out after the 20th week of pregnancy. The risk of complications is very high.

All these research methods carried out with anesthesia, under strict ultrasound control and only for very strict indications. Their goal is to identify the pathology of the fetus at the earliest possible date.

Still don't forget that even in the presence of data indicating pathology, there is always the possibility of their fallacy and the possibility of having a healthy child.

therefore an existing pregnancy should not be terminated without extremely important reasons. Especially if the future child is beloved and long-awaited.

In modern times, future parents, when planning a pregnancy, often pay close attention to what zodiac sign their unborn child should be under or what gender, completely forgetting that it is necessary first of all to pass the necessary tests and get advice from a geneticist.

Genetics is the science of heredity, thanks to which doctors have created special genetic tests aimed at identifying genes that can cause congenital diseases that are inherited. Thus, genetics during pregnancy makes it possible to conduct research on various diseases that are inherited, both before conception and during pregnancy.

To date a large number of families seek advice from geneticists about all sorts of diseases. Undoubtedly, a consultation with a geneticist during pregnancy is needed, first of all, to determine the possible risk group for the presence of diseases that can be inherited. A geneticist will conduct all the necessary studies in order to identify the presence of genetic pathologies in the unborn child.

Thus, when planning a pregnancy, as well as in the presence of pregnancy, gynecologists are recommended to undergo a medical genetic prenatal examination. This study conditionally divided into three main groups:

Invasive research with surgical intervention, thanks to which tissue and cells of the fetus are obtained;

Non-invasive research, that is, research without surgical intervention, which include ultrasound and blood and placenta.

Screening, consisting in the determination of substances in the mother's blood that can tell about birth defects fetus.

We can say that genetics during pregnancy also includes the definition of genetic risk groups, which include people who have a high probability of having children with. These risk groups include:

Women who have repeated miscarriages or missed pregnancies;

Women who used drugs during conception that are teratogenic;

Women over thirty-five years of age and men over forty years of age;

Parents who have various diseases inherited;

Parents who are in consanguineous marriage;

Parents who have been exposed to radiation or chemicals.

When pregnancy occurs, the gynecologist directs the woman to undergo an ultrasound scan. The first pass at a gestational age of five weeks, but the second must be completed no later than fourteen weeks of pregnancy. This is due to the fact that a geneticist during a woman's pregnancy has the opportunity at this time to diagnose the development of fetal malformations and determine some of its changes, which may be chromosomal pathology. In this case, the specialist will use a diagnostic method such as biopsy and amniocentesis. It is also recommended to undergo a third ultrasound at a period of twenty to detect abnormalities in the development of the face, limbs and internal organs child. In this case, genetics during pregnancy allows the child to be treated while still in the womb or to develop treatment tactics after his birth until complete recovery.

It should be remembered that only a comprehensive study by a geneticist of the pedigree, anamnesis of the woman and the state of health of both parents makes it possible to use the appropriate tactics for examining a pregnant woman and select the appropriate treatment methods if necessary. In this way , genetics during pregnancy can prevent the birth of children with various abnormalities.

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

Genetics: what is it?

First of all, it is worth noting that genetics is a whole separate science of heredity. It has gone through a rather difficult path in its own historical development, however, medical scientists in the last century nevertheless made a breakthrough - they created genetic tests that allow the identification of genes that are the causes of many hereditary congenital diseases. This gave doctors the opportunity to correctly diagnose many dangerous hereditary ailments even before the conception of the baby. And continue to examine the fetus (do screening) after the onset of pregnancy, starting from the 1st trimester.

Every family planning a pregnancy consciously worries, first of all, about the health of their unborn baby. For this reason, future parents are increasingly seeking advice from specialists about possible genetic diseases.

Who is at risk?

There is a concept as a genetic risk, and it concerns the category of people who have a high proportion of the likelihood 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 anamnesis (if they had repeated miscarriages, they gave birth to a dead child, if they suffer from infertility, and medical reasons while not installed;
• a woman who is exposed to adverse factors: prolonged contact with various chemical harmful substances, radiation, the use of drugs during conception, in which they can cause defects in the fetus;
• persons younger than 18 and older than 35 years, as well as men whose age exceeds forty years, since it is at this age that the risk of mutations in the genes slightly increases.

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

As a rule, future parents who are at risk are prescribed additional tests by doctors in order to avoid inheriting any disease. The rest can undergo a genetic test examination at will.

Consultation with a geneticist in early pregnancy

The 1st trimester of pregnancy is considered the most important and vulnerable period for the formation of the fetus. A variety of adverse 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:

• had SARS, flu, chickenpox, flu, hepatitis, herpes, or were HIV-infected;
• were treated with drugs, the annotations of which indicated that they were “contraindicated during pregnancy”;
• did fluorography;
• drank alcohol, smoked, took drugs;
• treated teeth with the passage of x-ray examination;
• sunbathing, getting pierced, climbing, riding, diving, dyeing their hair.

How does a consultation usually take place?

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

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

• It is necessary to remember what kind of diseases relatives previously suffered from, whether there were cases of multiple miscarriages, infertility, births in the family dead babies or children with developmental disabilities. In addition, it is important to know if there were consanguineous marriages or some kind of mental illness among your relatives and your husband's relatives.
• When you see a doctor, you need to bring your medical records and all the results of any examinations you have ever had.

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

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

Diagnosis of possible fetal malformations

AT last years doctors use such a research method as screening. The study should be carried out for absolutely all pregnant women in order to identify risk groups. Doctors send women for examination already at 1 trimet of their pregnancy.

Screening methods include:

1. Fetal ultrasound.
2. Accurate determination of all biochemical markers (hereinafter referred to as BM) in the mother's blood serum. AT

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

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

Perinatal diagnostics: a feature of such procedures

It is a perinatal diagnosis (both early and late screening), an intrauterine examination of the unborn baby - it is aimed at identifying malformations and hereditary diseases in the fetus. Experts distinguish two types of such diagnostics.

Heredity plays an important role in the life of every person. Thanks to her, we take from our parents traits of appearance, character, talents and inclinations. But along with positive qualities hereditary diseases and anomalies are transmitted to the unborn child.

According to genetic tests, the doctor determines whether there are risks of developing pathological processes in the body of the baby, and finds out whether there were genetic diseases in the male and female lines of the parents.

A married couple who is planning or is already carrying a baby should definitely sign up for a genetic examination. It is best to do this even when planning a pregnancy, but if it turned out that conception has already occurred, it still does not hurt to visit a doctor. This will reassure the parents that the baby will be born healthy.

In this article, we will analyze in detail why a consultation with a geneticist is needed, how it goes, and who is recommended to visit a doctor.

Why consult a geneticist during pregnancy

According to geneticists, going to a consultation is very important and necessary for future parents. Before conception and the birth of a child, both partners must undergo a medical examination, drink vitamins and recover from identified diseases (if any).

In addition, the couple should receive genetic counseling. He will talk about the presence of hereditary diseases in parents and identify whether there is a risk of developing abnormalities in the unborn child.

In the early stages of pregnancy, the doctor looks at the likelihood of developing pathologies in the fetus. If there are any risks, then they are sent for a blood test and additional examinations to clarify the results.

A couple in which a woman is over 30 and a man is over 35 years old must definitely come to an appointment with a geneticist.

In addition, if there was a miscarriage in a previous pregnancy or the girl drank illegal drugs, then consultation is also necessary.

Who is at genetic risk?

1. Couples with this type of disease.
2. Marriage and sexual activity with close and blood relatives.
3. Girls with a poor history (previously had abortions or spontaneous miscarriage, infertility detection, stillbirth).
4. Husband / wife working at an enterprise where there is constant contact with harmful chemicals(radiation, paint, toxins, pesticides).
5. Category of girls under 18 and over 30 years old, and men over 35 years old.

According to obstetrician-gynecologists, when passing the first screening, one should not ignore the referral to genetics. It must be visited before planning a newborn and after conception in order to minimize the risks of developing anomalies in the unborn child.

Usually, all couples who are at risk are assigned additional blood tests and diagnostic measures to identify the reasons for deviations. All other couples can make an appointment with the doctor if they wish.

What are genetic studies

Today, there are two main types of genetic research.

Let's consider them in detail.

Before conception

The specialist will examine the health status of relatives and spouses, age, number of children, and clarify the causes of death (if one of the relatives died). If there were no genetic abnormalities in the female and male lines and each generation gave birth to healthy children, then there is nothing to be afraid of.

In the event that there were problems in any line or the grandparents were seriously ill, the couple is assigned to study the chromosome set. During the procedure, a blood sample will be taken from the future father and mother for diagnosis.

The laboratory assistant will isolate lymphocytes from biological material and conduct artificial stimulation in a test tube. During this period, chromosomes are clearly visible. By their number, the specialist determines if there are any changes in the chromosome set.

During pregnancy

During the period of bearing a baby, the main diagnostic methods for deviations in the development of the baby are ultrasound or biochemical research.

During an ultrasound examination, the doctor scans the abdomen with a special probe. This is the safest and fast way examinations. At biochemical analysis a blood test is taken from a pregnant woman. Such diagnostic methods are called non-invasive.

When carrying out invasive diagnostic methods, a medical invasion into the uterine cavity occurs. So, the specialist receives biological material to diagnose the karyotype of the fetus.

This group of diagnostic methods includes:

• amniocentesis;
• chorion biopsy;
• placentocentesis;
• cordocentesis.

Biological material is taken from the placenta, amniotic fluid and blood plasma from the umbilical cord. Such diagnostic measures are considered dangerous and are carried out only as prescribed by the doctor.

For example, if a mother has a hemophilia gene, and later dates pregnancy ultrasound showed that the sex of the child is male, then invasive diagnostic methods are carried out in a hospital. After all the procedures, the girl should remain in the daytime department for several more hours under the supervision of a gynecologist.

A chorion biopsy is performed from 8 to 13 weeks of gestation. The doctor makes a puncture in the front of the abdomen. The whole procedure takes 5-7 minutes, the test results can be found after 2-3 days. Such methods of examination help to identify abnormalities in the development of the fetus in early pregnancy.

Amniocentesis (amniotic fluid sampling) is done at 18-25 weeks. It is considered the safest invasive method of research. The results of the tests can be known after a few weeks, depending on how quickly the cells begin to divide.

Cordocentesis (fetal puncture) is done at late gestation (23–26 weeks). This is the most accurate diagnostic method, the results of the tests can be found out after 6 days.

Fetal umbilical cord puncture, cord blood sampling - cordocentesis - is carried out at a later date: 22–25 weeks. A very accurate research method that helps to identify genetic abnormalities in the fetus, the term of the analysis results is up to 5 days.

Non-invasive diagnostic methods are assigned to all women in position, invasive only if there are any deviations in the history.

How is the consultation

During the consultation, the doctor does the following:

1. Conducts a survey - partners need to tell the history of their family's illnesses.
2. Studying the medical history of future parents.
3. If there are any chronic diseases, then he prescribes a blood test, ultrasound procedure and amniocentesis.
4. Creates a family tree with detailed description every member of the family.
5. Conducts prenatal screening.

At the reception, future parents can ask their questions to the doctor and clarify the information they are interested in.

The interpretation of the results and their evaluation is most often carried out by a geneticist together with a gynecologist and a married couple. If there are any deviations in the data, the doctor gives the partners information on how to avoid possible complications and helps to decide whether to proceed with the pregnancy.

Prevention of gene diseases

To avoid gene pathologies, future parents are recommended to carry out prevention. Such activities should be carried out before the conception of the baby. Partners are recommended to drink a course of vitamins, give up junk food and habits (smoking, alcohol).

In addition, both partners must protect themselves from contact with chemical and toxic substances. If on the side of the father or mother were hereditary pathologies you will need to undergo a DNA test.

The vitamin complex that the gynecologist prescribes during planning should contain folic and ascorbic acids, a-tocopherol, B vitamins. In the menu, turn on fresh vegetables and fruits, meat, dairy products. This will help strengthen the body and prepare it for the development of a new life.

A geneticist will tell you about the features of genetic examinations.

Conclusion

Pregnancy is a wonderful period in a girl's life.

During this time, cardinal changes take place in the body. For a healthy baby to be born married couple you need to carefully prepare for this event. Going to a geneticist will allow future parents to make sure that the pregnancy will go well and find out if there are any risks of developing defects or genetic diseases.