What geneticists do during pregnancy. The birth of a new life, is genetics needed during pregnancy. What is a geneticist's consultation and how does it take place?

Only 7 reviews.

Genetics is an important science, the focus of which lies in the study of the genetic mechanisms of various hereditary diseases. The role of genetic factors in all types of pathology is considered, new diagnostic methods are being improved and developed, a significant role is also assigned to the prevention of hereditary diseases.

It should be noted that hereditary diseases are not always the cause of congenital malformations that develop in utero. Quite often, fetal mutations occur for the first time. There are many reasons for this: past viral diseases (influenza, rubella), uncontrolled intake of medicines, the effect of chemicals (benzene, arsenic, herbicides), electromagnetic radiation.

As a rule, a geneticist is referred for consultation in certain cases. At their own request, couples who think about the child go to genetics. It is a geneticist who, taking into account the likelihood of a non-hereditary or hereditary disease, can predict the health of your unborn child. Having compiled the pedigree, the geneticist will determine the risk group, advise, in order to exclude genetic pathology, which studies and analyzes need to be carried out.

A visit to the doctor is especially necessary if there are relatives with genetic diseases or if the couple has encountered. He will determine the relationship of this problem with genetics. According to statistics, 5 couples out of 100 for medical reasons cannot do without consulting a geneticist.

You should also visit genetics if the couple already has a child with developmental defects or a chromosomal pathology has occurred before 9 months. A doctor's consultation is also necessary when a woman is over 35 years old and she gives birth to a child. It's all about the aging cells of the chromosome, which do not behave as they should during the formation of the embryo. And the presence of one extra chromosome will cause a child with Down syndrome.

Much has already been said that during pregnancy, the use of alcohol, medicines, drugs is generally unacceptable, especially before the 3rd month of pregnancy. But if this is present, a visit to a geneticist is necessary. The basis for this will be the results of ultrasound and biochemical studies. In particular, if physical abnormalities are detected during ultrasound, and with subsequent biochemical analysis, the level of alpha-fetoprotein, chorionic gonadotropin, protein is outside the norm.

It is advisable for the child's future father to come to the appointment to study his spermogram. If a specialist detects a violation of spermatogenesis, then a cytogenetic study is necessary, in which the chromosome set is determined. In addition to semen analysis, tests for latent and obvious infections made by PCR, sexually transmitted infections are needed. It is better to do them, even if the man is not worried about anything at the time of the test. A man should also receive a number of vaccinations to prevent the woman from contracting infections during pregnancy.

Genetic testing before conception

At the consultation, a geneticist will examine the spouses and collect all the necessary data on their health. The consultation provides for a thorough study of the pedigree, as well as the family tree with a detailed description of the health status of relatives and all their family ties. He will ask in detail about all existing diseases of relatives, their age, causes of death. During the consultation, the geneticist will rely on oral questioning and questionnaires. Usually the survey starts with the maternal grandparents. His survey includes information about all infertile marriages, abortions, miscarriages.

Expectant parents will be offered a study of their chromosome set, carrying out a number of necessary medical procedures. For this, a geneticist examines 11-13 cells under a microscope.

Genetic testing during pregnancy

Prenatal diagnosis is understood as an intrauterine examination even before the birth of a child to detect hereditary diseases and malformations in the fetus.

Intrauterine examination is one of the main methods for detecting developmental pathologies. It is carried out mainly with ultrasound, and biochemical studies are also necessary. The fetal scan method is absolutely safe and harmless. For biochemical studies, blood is taken from a pregnant woman, then biochemical markers are determined. These manipulations are classified as non-invasive methods.

Invasive ones involve medical intervention directly into the uterine cavity. Experts, therefore, take material for further research in order to more accurately determine the karyotype of the fetus. These are amniocentesis, chorionic biopsy, cordocentesis, and placentocentesis.

Note that the collection of cells is made from amniotic fluid, placenta, blood from the umbilical cord of the fetus. We must say right away that this research method is quite dangerous and is carried out exclusively for medical reasons. For example, if the mother is the carrier of the hemophilia gene and the sex of the child is male.

• Invasive research methods are carried out in a day hospital and only under ultrasound guidance. After they are carried out, the woman should be observed under medical supervision for a couple of hours. Chorionic biopsy - taking cells from the placenta. It is carried out at 9-12 weeks. For this, a puncture of the anterior abdominal wall is done. This procedure does not take much time, and the result is ready for 3-4 days, the risk of miscarriage is 2%.
• A visit to a geneticist is very necessary, because if genetic pathologies are found, it is possible to terminate a pregnancy at an early stage. Amniocentesis - the extraction of amniotic fluid - is performed for 16-24 weeks. It is the safest method of invasive, moreover, with a low percentage of complications - 1%. True, it will take a lot of time to wait for the result, it is necessary to "grow" the cells, and this takes a long time.
• Cordocentesis - a method of obtaining cord fruit - is carried out at a later date, namely, 22-25 weeks. A fairly accurate method, the duration of the analysis is up to 5 days. Note that non-invasive methods are indicated for all pregnant women, at the same time, for invasive ones, solid indications are required.

Prevention of gene diseases

Many will now wonder what kind of prevention for genetic diseases. Of course, this is worth thinking about before conception. It is important for both spouses to undergo a course of therapy, avoid smoking and alcohol, take vitamins, and minimize contact with harmful substances. DNA testing should be done by couples who have hereditary pathologies in the family.

A couple of months before conception, couples are recommended vitamins containing ascorbic acid, folic acid (up to 0.4-1 mg per day), B vitamins, a-tocopherol. Proper nutrition also cannot be discounted. It is necessary to include liver, legumes, greens in the diet. All this will benefit both the parents themselves and their child.

Do not forget that modern medicine today is able to work miracles and is able to minimize the risk of gene mutations.

In modern times, future parents, when planning a pregnancy, often pay close attention to what sign of the zodiac their future child should be or what gender, completely forgetting that it is necessary first of all to pass the necessary tests and consult 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 inherited diseases, both before conception and during pregnancy.

Today, a large number of families seek advice from geneticists for all kinds of diseases. Undoubtedly, consultation of a geneticist during pregnancy is needed, first of all, to determine a possible risk group for the presence of diseases that can be inherited. A geneticist will conduct all the necessary research 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 study. This study is conventionally divided into three main groups:

Invasive research with surgical intervention, thanks to which fetal tissue and cells are obtained;

Non-invasive studies, that is, studies without surgery, which include ultrasound and blood and placenta.

Sifting consists in determining in the mother's blood substances that can tell about congenital malformations of the fetus.

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

Women with repeated miscarriages or missed pregnancies;

Women who used drugs during conception that were teratogenic;

Women over thirty-five years old and men over forty years old;

Parents who have various inherited diseases;

Parents who are consanguineous;

Parents who have been exposed to radiation or chemicals.

When pregnancy occurs, the gynecologist directs the woman to undergo an ultrasound scan. The first takes place at a gestation period 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 chromosome 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 scan at a period of twenty to identify abnormalities in the development of the face, limbs and internal organs of the child. In this case, genetics during pregnancy allows the child to be treated while still in the womb or to develop treatment tactics after 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 the pregnant woman and select the appropriate treatment methods if necessary. Thus , genetics during pregnancy can prevent the birth of children with various disabilities.

Today, a family planning a pregnancy cannot do without a geneticist. What does he do, how does he help patients during admission, and in what situations a person should contact - in more detail below.

Geneticist: what he does

In order to understand who a geneticist is and what he does, it is necessary to clearly understand what genetics is. Genetics is the science of heredity, its patterns and variability. This science was born from the time of the initial stages of gathering and cattle breeding. At a time when people comprehend for themselves completely new knowledge about growing plants, their viability in a particular environment, the volume of the harvest, and finally, taste. When tribes began to domesticate animals, raise livestock and plow fields with the help of animals, we can hear the first echoes of genetics. Consequently, a geneticist is a scientist studying a given science.

Gregor Mendel became the most famous pioneer in genetics.

Since 1865, he experimented with plant hybrids and, when crossing peas, found? that a number of traits are inherited. Mendel was constantly criticized and did not believe in his works, but he deduced 3 laws.

They were later named after him:

• The law of uniformity of the first generation hybrids;
• The law of splitting of signs;
• The law of independent inheritance of traits.

The term "gene" and the name "genetics" were introduced into the lexicon by W. Batson and W. Johansen at the beginning of the 20th century.

There are many divisions in genetics, from classical to genetic genealogy.

What a geneticist does: when to visit

A geneticist is a medical specialist who diagnoses, treats and prevents pathologies that arise from heredity. Increasingly, a person undergoes genetics, when consultation is needed when planning a pregnancy, this helps to avoid disastrous results and to find out all the risks of conception and childbirth.

It is especially important to visit a geneticist, in cases where:

• Parents are at risk of hereditary diseases;
• A child is conceived or conceived by blood relatives;
• In cases where heredity is unknown;
• When a genetic disorder is suspected in an adult or child.

A genetic physician deals with the treatment of hereditary diseases caused either by a predisposition or by sexual relations between blood relatives. The reason that couples wishing to conceive a child turn to geneticists is the fact that a doctor of this specialization can assess and calculate the degree of risk of occurrence of genetic diseases.

Also, a geneticist identifies whether potential parents are carriers, and, if the answer is positive, must explain in an accessible way the possible consequences for the child and the risks of the disease.

A geneticist does not treat pointwise, that is, he does not treat a specific organ, his task is to identify or refute the presence of one or another hereditary disease.

Geneticist during pregnancy: what he does

The only important reason why future parents turn to a geneticist is the possibility of having an unhealthy child. After all, no parent wants a child to suffer all his life.

Genetics has been studied as deeply as a medical field only for the last 30 years. Let's define the most important concept - the genetic code. A genetic code is a lettering system for the composition of proteins in DNA. It has been studied for a long time.

Each person has proteins, which, in turn, have their own structure, laid down by their parents, and it determines the color:

• Eye;
• Skin;
• Hair.

The cells do not stop only at this, then they also produce proteins, thanks to them, the height and weight of people and many other indicators are determined. There are reasons to seek advice from a geneticist. These are failed attempts to get pregnant, frequent, constant miscarriages (most often, due to genetic problems of the embryo), in this case, consultations and analysis of the situation, for the most part, solve these problems.

At this age and older, the risk of hereditary diseases, such as Down syndrome and others, increases. Donating blood for genetics during pregnancy is necessary in situations where there is a hereditary disease in one of the parents, drug addiction, alcoholism and taking various drugs in the first trimester of pregnancy, and if the family already has a child with a genetic pathology of any nature.

An ultrasound scan must be done no later than the 14th week of pregnancy, it is at this time that a geneticist can identify malformations, deviations from developmental norms, in this case, it is possible to treat a child without waiting for his birth, even in the womb. This is the only salvation in the case when the child is sick, but not full-term, and his premature birth is even worse than the disease itself. The doctor himself can request a genetic blood test if he is not satisfied with the biochemical tests. It is very important to consult a geneticist if the expectant mother has an intrauterine infection. Also, there are diseases that are transmitted only to the male or female sex. In this case, with such a risk, doctors insist on laboratory selection of the child's sex.

The essence of the reception at the geneticist

Geneticists select female and male sperm and inject more favorable ones into the uterus. Genetic analysis helps to identify risks and give birth to a healthy baby. There are various survey options, each of these options are capable of solving specific problems.

For example:

1. Study of analyzes and pedigrees of the parents of a potential child. Conception and childbearing is a complex process, the doctor must be responsible for doing the maximum in his power, in cases of risk of genetic diseases.
2. Non-invasive methods - ultrasound examination reveals the risk of birth with genetic pathologies, but only in the early stages of pregnancy.
3. Chorionic biopsy is an analysis of the tissue that makes up the placenta. The genetic cells that make up the chorion coincide with those that make up the embryo. Therefore, if there is a pathology in the chorionic cells, then the fetus also has it.
4. Amniocentesis is the collection of amniotic fluid, they contain particles of the old epithelium of the embryo. In the event that there are pathologies in the genes of these particles, the child himself has genetic defects.
5. Cordocentesis is an analysis of blood from the umbilical cord, performed in utero, thus the blood of the child is examined.
0.00 (0 Votes)