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What is a screening examination. Screening and early detection of cancer. Screening standards for hereditary diseases

Preparations

Screening is the identification of signs of the disease, before you feel any changes in your own condition, that is, objective symptoms appear. Screening is the main way to detect breast cancer in the early stages, when treatment has a favorable prognosis. Depending on age and the presence of risk factors, screening may consist of self-examination of the breast by you, examination during a regular visit to the doctor, mammography, etc.

Breast self-examination

Self-examination of the gland should begin at the age of 20 years. Then you'll get used to the usual appearance and the consistency of your breasts, you will be able to detect changes in it at an early stage. If you find changes in your breasts, see your doctor as soon as possible. During the visit to the doctor, pay attention to these changes, and also show the doctor your technique for self-examination, ask any questions that interest you.

Doctor's examination

During the examination, the doctor will examine both breasts to look for nodules or other changes. It can detect changes that you missed on your own. He will also examine the axillary lymph nodes.

Mammography

This study is a series of x-rays of the gland, and this moment this is best method studies to detect small tumors that cannot be determined by the hands of a doctor during palpation.

There are two types of this study.

    Survey/screening images. Run regularly, once a year, they can be useful for detecting changes that have occurred in the hardware since the last snapshot.

    Diagnostic snapshot. Performed to evaluate changes that you or your doctor detect. Good visualization may require several shots, including pinpoint shots of the suspicious area.

But mammography is not perfect. A certain percentage of cancerous tumors are not visible on x-rays, and sometimes they can even be determined by hand during palpation, but, nevertheless, are invisible in x-rays. This is called a false negative result. The percentage of such tumors is higher in women aged 40-50 years: the breasts in women of this age are denser and it is more difficult to distinguish nodular formations in the picture against the background of denser gland tissue.

On the other hand, mammograms can show changes that look like a cancerous tumor when in fact there is none, this is called false positive results. Such errors lead to unnecessary biopsies, patient distress, and higher costs for healthcare facilities. The accuracy of the description of mammograms is significantly affected by the experience of the radiologist. But, despite some shortcomings of mammography as a screening method, most experts agree that it is the most reliable method of screening for breast cancer in women.

During a mammogram, your breasts are placed between special plastic plates to keep them still while the image is taken. The entire procedure takes less than 30 seconds. Mammograms are usually not uncomfortable, but if you are concerned about something, tell the x-ray technician who takes the x-ray.

When scheduling your annual mammogram and doctor's appointment, visit your doctor first so that he can spot suspicious areas in your breast during the examination and write a referral to the radiologist for a targeted x-ray.

Other screening methods

Mammography with computer-assisted image recognition (CAD, Computer-Aided Detection).

With traditional mammography, your images are viewed and described by a radiologist whose experience and qualifications mainly determine the accuracy of the diagnosis, in particular, the number of cases of small tumors missed in the images. In our case, the doctor is asked to first indicate to the program suspicious, in his opinion, areas, after which the program additionally highlights areas that are suspicious from her point of view. Of course, the software can never replace the intelligence of a doctor, but the joint work of a person and a computer can increase the number of breast tumors detected at the earliest stages.

Digital mammography.

It differs fundamentally from traditional mammography in the way the X-ray image is stored. From the very beginning, the picture is captured by a digital detector (like a digital photograph, without film) and later the doctor gets the opportunity to change the brightness of the image, to increase its individual sections. Digital images can be transferred over long distances, for example, from a province to a major center, for consultation with a specialist. Digital mammography is most relevant for women in their 40s and 50s as their breasts are more dense and the ability to change the brightness of the image is in high demand.

Magnetic resonance imaging (MRI).

This research method allows you to get an image of the entire mass of the breast, to make virtual layer-by-layer sections. In this case, instead of X-rays, a powerful magnetic field and a radio signal are used, in other words, this study does not give radiation exposure. MRI is not used for mass screening of breast cancer, but may be ordered to examine suspicious areas that are inaccessible to palpation due to their small size and are difficult to see on traditional mammograms. MRI does not replace, but complements traditional mammography.

MRI is not indicated for on-line breast cancer screening due to the large number of false positives resulting in unnecessary biopsies and patient distress. This study is high-tech and expensive, the images require interpretation by an experienced radiologist.

According to the latest recommendations, MRI should be done for all women newly diagnosed with breast cancer. This may reveal the simultaneous presence of an additional tumor in the same gland or in a second breast not found on mammograms. However, there is no reliable data yet whether such a study reduces breast cancer mortality.

Breast ultrasound.

The method is used to additionally evaluate suspicious lesions visible on mammograms or on examination. High-frequency sound waves are used to obtain an ultrasound image, which means that this study, like MRI, does not give radiation exposure. Ultrasound can reliably distinguish volumetric formations - cysts, that is, cavities with liquid, from nodes consisting of dense tissue. Breast ultrasound is not used for cancer screening due to the large number of false positive results - it creates the appearance of the disease where it is not.

New screening methods

flow lavage

In the external opening of the excretory duct of the mammary glands, located on the nipple, the doctor inserts a thin flexible tube, a catheter, through which he first injects a special solution, and then receives a suspension of cells, among which there may be atypical, cancerous ones. Most breast cancers begin their growth precisely from the lumen of the ducts of the glands, and indeed: atypical cells can be detected in lavage long before the first signs of a tumor appear on mammograms.

However, this method is a new and invasive intervention, for which the percentage of false negative results is not fully determined, and the relationship between the detection of cancer cells in lavage and the development of breast cancer is not fully understood. Until these questions are answered, ductal lavage cannot be recommended as a mass screening method.

Breast scintigraphy

New technology for detecting the smallest tumors in the mammary glands. You are injected intravenously with a special substance, an isotope radiopharmaceutical, which is distributed throughout the body and accumulates in the breast tissue. Recent studies have shown that this method helps to identify small tumors that were missed by mammography and ultrasound.

Taking a biopsy from a suspicious lesion detected by this method presents problems, but research is underway in this direction.

This study gives a small radiation load on the body; the examination requires compression of the breast, as in a mammogram. Women with dense breasts (because mammography is not effective enough for them) and women with a high risk of developing breast cancer are participating in the study of the new method. Depending on the results of the study, the place of this diagnostic method in a number of methods for the early diagnosis of breast cancer will be determined. Probably, the method will become an addition to conventional mammography.

What is the difference between conventional ultrasound and screening, is there a difference between them? To answer this question, you need to know what screening is and whether it can differ from ultrasound.

Screening is the examination of a specific group of the population. It is carried out to identify a specific disease characteristic of a group of people or an area.

In other words, it is dispensary. It is under this word that screening is known to people who have undergone medical examinations at school and at enterprises.

The purpose of this event is to identify diseases at an early stage, which makes it possible to start treatment on time and reduce mortality.

Screening equipment differs from the devices used in conventional diagnostics in lower accuracy, since the goal in this case will be the detection or exclusion of the disease.

There are mass medical examinations and selective ones, which are carried out in risk groups, for example, when not all family members in which there is a hereditary disease are examined, but only a few.

Prenatal screening, which is carried out during pregnancy, is the most famous. But there are other types of screening: children's and adult medical examinations, annual mass screening for tuberculosis, etc.

Pediatric medical examinations are planned universal examinations of children. In children under one year old, they are carried out monthly, in children aged 3 to 18 years - annually.

Medical examination of adults is carried out once every 3 years, and some groups of citizens are required to undergo it annually.

Examples of such screening include mammography (examination of the breast), colonoscopy (examination of the bowel), and dermatological examination to detect skin cancer.

Newborn screening - this is the name of the mass examination of children in maternity hospitals using laboratory tests.

The goal is to detect hereditary diseases before their symptoms appear. Before being discharged from the hospital, a drop of blood is taken from the baby's heel and sent to a genetic laboratory for analysis.

In Russia, newborns are screened for phenylketonuria, congenital hypothyroidism, cystic fibrosis, galactosemia, and adrenogenital syndrome.

Screening improves the health of the population as a whole. It allows you to identify the disease at an asymptomatic stage, at which treatment is most effective.

Ultrasound examination

Ultrasound or ultrasonic examination is the study of any organ or tissue using ultrasonic waves.

Ultrasound examination differs from other methods in safety, it does not violate the integrity skin, does not involve the introduction of foreign substances into the body, does not increase the radiation background in the human body.

The method is considered absolutely safe, has no side effects and can even be used to study the fetus at any stage of pregnancy.

The study is carried out using an ultrasound diagnostic apparatus or a scanner. Most types of ultrasound do not require special preparation.

Ultrasound is used in almost all branches of medicine. Ultrasound is used in ophthalmology, gynecology, pediatrics, therapy, urology, cardiology.

It is used to diagnose diseases internal organs, abdominal cavity and retroperitoneal space, small pelvis.

This is an inexpensive and affordable study that allows you to diagnose many dangerous diseases with sufficient accuracy.

It also has a drawback - it is difficult to examine hollow organs with the help of ultrasonic waves.

Some types of ultrasound are included in the complex of mandatory studies conducted during medical examinations.

For example, ultrasound of the abdominal cavity is included in the list of mandatory examinations conducted in people over 39 years of age.

If we talk about the study of ultrasound, then here the female medical examination differs from the male. In women, the pancreas, kidneys, uterus, ovaries are examined.

In men, the pancreas, kidneys, prostate gland, and since 2015, smoking men of a certain age, a single ultrasound examination of the abdominal aorta is performed to exclude aneurysm.

An ultrasound examination conducted as part of such a screening makes it possible to detect neoplasms of internal organs that have not yet manifested themselves.

Now there are all the possibilities for conducting this examination, in any large city there are medical centers where you can apply for this.

The study can be done free of charge under the CHI program. The attending physician who ordered the ultrasound must explain in which institution it is carried out free of charge.

What is the difference between screening ultrasound and ultrasound?

Prenatal screening is a diagnostic examination of all pregnant women, which consists of a combination of ultrasound and blood tests. Screening ultrasound is performed in all pregnant women, regardless of their well-being.

What is the difference between an ultrasound as part of screening and just an ultrasound that a pregnant woman undergoes? Strictly speaking, nothing. In both cases, the study can be carried out on the same apparatus.

The difference is in the approach to deciphering the results of an ultrasound study.

During screening, ultrasound indicators are compared with the results of a blood test and conclusions are drawn regarding the development of the fetus based on the combination of these two studies, and with a conventional ultrasound, the doctor simply looks at the fetus or organ and writes a conclusion.

It is clear that screening study deeper, it better helps to explore the fetus.

Screening ultrasound is only one of the preventive measures, which, along with a biochemical blood test, is included in prenatal screening.

Biochemical analysis reveals certain marker enzymes in the blood. Deviations from their normal concentration indicates malformations.

Such a complex allows you to assess the risk of congenital anomalies:

  • Down syndrome;
  • Edwards syndrome;
  • defects in the brain and spinal cord.

During pregnancy, a woman undergoes two screenings, and if necessary, a third is also carried out.

The first diagnosis includes an ultrasound and a blood test for two hormones, the second - an ultrasound and an analysis for three hormones (triple test).

The last screening (third trimester) consists only of ultrasound, which is carried out on a high-precision "Expert" class apparatus.

During a routine ultrasound during pregnancy, you can examine not the fetus, but the organ of the expectant mother.

A pregnant woman can be sent for examination of the kidneys, liver, gallbladder, pancreas, blood vessels, glands.

Just an ultrasound during pregnancy is prescribed if there are indications for this, for example, a doctor suspects a pathology or a woman has any health problem.

In this case, she is prescribed an ultrasound as a normal patient.

In other words, technically, screening ultrasound and ultrasound during pregnancy are no different from each other. They just have different goals.

The main purpose of ultrasound during pregnancy is to determine the position of the fetus in the uterus and development.

The task of an ultrasound examination carried out as part of screening is to determine the possible pathology in a child.

This allows you to choose therapeutic measures or decide on the termination of pregnancy.

Now it is clear that the question of “what is the difference between screening and ultrasound” sounds incorrect.

It is impossible to say whether they are different or not, since ultrasound is just one of the studies that are included in the screening or carried out outside of it.

It is carried out with a group of children and is aimed at identifying children with a particular group of characteristics, assesses the constancy of certain psychological properties in a given group of children.

2. Advanced psychological diagnostics , which is carried out after the selection of children with any developmental features and in need of additional developmental or corrective work, i.e. in special psychological assistance. As a rule, it is carried out individually or in small groups.

3. Dynamic survey , with the help of which the dynamics of development, the effectiveness of training, developmental and / or corrective measures can be traced. It can be carried out several times during one correctional course.

4. Final diagnostics . The purpose of this type of diagnosis is to assess the child's condition at the end of the course of corrective work.

PRINCIPLES OF DIAGNOSTICS

When conducting any type of diagnostics, a teacher-psychologist of a preschool educational institution must observe the following principles:

- complexity and versatility in the study of the child, the desire for maximum consideration in assessing the development of all his significant characteristics;

- the study of children in activities and relationships, through activities and relationships;

- pedagogical orientation: studying, diagnosing not as an end in itself, but as a means that determines the direction of corrective assistance to the child in overcoming his problems;

- participation in the study and assessment of the development of the child of all parties involved in his fate and interested parties (parents, educators, teachers);

In order for the diagnostic results not to be distorted, the teacher-psychologist needs to take into account:

- physical development and condition of the child;

- psychophysiological features of his age;

– dynamics of physical development (anamnesis);

- the state of hearing, vision;

- features of the development of the motor sphere;

- violations of general motor skills (general tension or lethargy, inaccuracy of movements; paralysis, paresis, the presence of their residual effects);

- coordination of movements (features of gait, gesticulation, difficulty, if necessary, to maintain balance, difficulties in regulating the pace of movements, the presence of hyperkinesis, synkinesis, obsessive movements);

- features of working capacity (fatigue, exhaustion, absent-mindedness, satiety, switchability, perseverance, pace of work; an increase in the number of errors by the end of a lesson or with monotonous activities; complaints of a headache).

METHODS OF PSYCHOLOGICAL RESEARCH

Research methods can be considered based on four main positions:

a) non-experimental psychological methods;

b) diagnostic methods;

c) experimental methods;

d) formative methods.

Currently, a large number of diagnostic methods have been developed, but not all of them are applicable to preschool children. The most acceptable are: observation, conversation, experiment, survey.

Non-experimental methods:

Observation is one of the most commonly used research methods. Observation can be used as an independent method, but usually it is organically included in other methods of research, such as conversation, study of the products of activity, various types of experiment, etc.

Observation and self-observation is the purposeful, organized perception and registration of an object and is the oldest psychological method.

Observation can be carried out directly, or with the use of observation instruments and means of fixing the results. These include: audio, photo and video equipment, special surveillance cards, etc.

Fixation of the results of observation can be carried out in the process of observation or delayed.

Observation is an indispensable method if it is necessary to investigate natural behavior without outside interference in a situation where you need to get a holistic picture of what is happening and reflect the behavior of individuals in its entirety. Observation can act as an independent procedure and be considered as a method included in the process of experimentation. The results of observing the subjects in the course of their performance of the experimental task are the most important additional information for the researcher.

Questionnaire , like observation, is one of the most common research methods in psychology. Questionnaires are usually conducted using observational data, which (along with data obtained using other research methods) are used in the design of questionnaires.

There are three main types of questionnaires used in psychology:

- these are questionnaires made up of direct questions and aimed at identifying the perceived qualities of the subjects.

These are scale questionnaires; when answering the questions of questionnaires-scales, the subject must not only choose the most correct of the ready-made answers, but analyze (evaluate in points) the correctness of the proposed answers.

Conversation - one of the methods for studying human behavior, since in other natural sciences communication between the subject and the object of research is impossible. A dialogue between two people, during which one person reveals the psychological characteristics of the other, is called the method of conversation. A conversation can also be conducted with a group, when the educator asks questions to the whole group and makes sure that the answers include the opinion of all members of the group, and not just the most active ones.

The conversation can be both more standardized and more free. In the first case, the conversation is conducted according to a strictly regulated program, with a strict sequence of presentation, clearly fixing the answers and relatively easy to process the results.

In the second case, the content of the question is not planned in advance. Communication flows more freely, wider, but this complicates the organization, conduct of the conversation and processing of the results. This form places very high demands on the teacher.

There are also intermediate forms of conversation that try to combine the positive qualities of both of these types.

Preliminary work is very important in preparing for a conversation.

1. The leader of the conversation should carefully consider all aspects of the problem that he is going to talk about, pick up those facts that he may need. A clear statement of the purpose of the conversation helps to formulate clear questions and avoid random ones.

2. He must determine in what order he will raise topics or ask questions.

3. It is important to choose the right place and time for the conversation. It is necessary that there are no people nearby whose presence could confuse, or, even worse, affect the sincerity of the interlocutor.

When conducting a conversation, especially a free one, you should adhere to the following recommendations:

1. Communication should begin with topics that are pleasant to the interlocutor, so that he willingly starts talking.

2. Questions that may be unpleasant for the interlocutor or cause a feeling of verification should not be concentrated in one place, they should be evenly distributed throughout the conversation.

3. The question should cause discussion, expansion of thought.

4. Questions should take into account the age and individual characteristics of the interlocutor.

5. Sincere interest and respect for the opinion of the interlocutor, a benevolent attitude in a conversation, a desire to convince, and not force an agreement, attention, sympathy and participation are no less important than the ability to speak convincingly and reasonably. Modest and correct behavior inspires confidence.

6. The educator should be attentive and flexible in conversation, prefer indirect questions to direct ones, which are sometimes unpleasant to the interlocutor. Reluctance to answer a question should be respected, even if it misses important research information. If the question is very important, then during the conversation you can ask it again in a different wording.

7. From the point of view of the effectiveness of the conversation, it is better to ask several small questions than one large one.

8. In a conversation with pupils, indirect questions should be widely used. It is with their help that the educator can obtain information of interest to him about the hidden aspects of the child's life, about the unconscious motives of behavior, ideals.

9. In no case should you express yourself in a gray, banal or incorrect way, trying in this way to approach the level of your interlocutor - this is shocking.

10. For greater reliability of the results of the conversation, the most important questions should be in various forms repeat and thereby control previous answers, supplement, remove uncertainty.

11. You should not abuse the patience and time of the interlocutor. The conversation should not last more than 30-40 minutes.

The undoubted advantages of the conversation include:

The presence of contact with the interlocutor, the ability to take into account his responses, evaluate his behavior, attitude to the content of the conversation, ask additional, clarifying questions. The conversation can be purely individual in nature, be flexible, maximally adapted to the pupil

Oral responses take less time than written responses.

The number of unanswered questions is markedly reduced (compared to written methods).

Students take questions more seriously.

At the same time, it should be borne in mind that in a conversation we receive not an objective fact, but a person's opinion. It may happen that he arbitrarily or involuntarily distorts the real state of affairs. In addition, the pupil, for example, often prefers to say what is expected of him.

Questionnaire.

The questionnaire belongs to the most proven, practiced and mastered methods. But this diagnosis has one common negative feature. It is exploited when the teacher does not take the trouble to creatively select methods for a specific pedagogical goal, and with the help of a questionnaire they try to find out from the children themselves what is the measure of their upbringing. Therefore, teachers often resort to a simultaneous survey of parents and children, and also take into account their own assessment.

The criterion for evaluating the questionnaire is the measure of detection of the child’s directed interest, his desires, aspirations, doubts and, as a result, personal problems of life, as well as the measure of spiritual assistance to the child: when the questionnaire, being a diagnostic, helps children to comprehend themselves in the world and gives rise to their positive activity, opening up for them a new aspect of life or a new value object.

monographic method. This research method cannot be embodied in any one technique. It is a synthetic method and is concretized in the aggregate of a wide variety of non-experimental (and sometimes experimental) methods. The monographic method is used, as a rule, for a deep, thorough study of age and individual characteristics.

Diagnostic methods.

Diagnostic research methods include various tests, i.e. methods that allow the researcher to give a quantitative qualification to the phenomenon under study, as well as various methods of qualitative diagnostics, with the help of which, for example, various levels of development of the psychological properties and characteristics of the subjects are revealed.

Test - a standardized task, the result of which allows you to measure the psychological characteristics of the subject. Thus, the purpose of a test study is to test, diagnose certain psychological characteristics of a person, and its result is a quantitative indicator that is correlated with previously established relevant norms and standards.

The difference between diagnostic methods and non-experimental methods is that they not only describe the phenomenon under study, but also give this phenomenon a quantitative or qualitative qualification, and measure it.

Methods of carrying out diagnostic work.

Pedagogical examination is aimed at determining the level of assimilation of program material by pupils of preschool age. The survey can be conducted both for the program as a whole, and for a section or subsection. Based on the data obtained, conclusions are drawn, a work strategy is built, strengths and weaknesses are identified, technologies are developed to achieve the desired result, forms and ways to eliminate shortcomings. Pedagogical examination is aimed at identifying the level of program material, achieving high results in its assimilation, correcting the forms, methods and methods of teaching pupils, and the effectiveness of using pedagogical technologies.

Pedagogical examination is carried out twice a year: for the first half of the year - January, for the second in May (possibly the third at the beginning of the school year) Examination for all sections of the program, except for special ones (musical and physical) is carried out by educators, the administration is present during the examination, helps with resolution controversial issues, conduct a re-examination (if necessary).

The results of the survey are discussed at a joint meeting, the reasons for the insufficiently high level of assimilation of the program material for each task, subsection, section by each child are identified, and further actions of teachers in working with pupils are outlined. The compiled analytical report is read out at the pedagogical council.

Diagnostics is of great importance for the purposeful and effective implementation of the educational process. It allows, through control (monitoring) and correction of the entire system of education and training and its components, to improve the process of education, training and development of children.

Stages of organization of diagnostic work.

    Definition of goals and setting tasks, development of guidelines for conducting pedagogical diagnostics.

    Development of criteria for assessing the levels of assimilation of program material.

    Development of tasks for the examination of pupils.

    Development of a plan for conducting a diagnostic examination.

    Preparation of material for diagnostics.

    Development of a table - matrix "Results of pedagogical survey"

    Filling in the diagram of the dynamics of individual assimilation of the program material by each pupil (in comparison for two half-years).

    Drawing up, on the basis of the data obtained, an analytical report on the assimilation of the program material for this section.

    The educational institution issues an order “On the conduct of pedagogical diagnostics”, which indicates the goals of the conduct, responsible persons, and the timing of the conduct.

    At the end of the diagnostic examination and summarizing the results, an order “On the results of pedagogical diagnostics” is issued, which reflects the results, conclusions, recommendations, responsible persons, deadlines for eliminating deficiencies.

    Specificity of psychological and pedagogical diagnostics of younger schoolchildren.

What is he, a junior schoolboy who will hard way learning new things under the guidance of a teacher, whose interest in learning is to be aroused by the teacher?

Primary school age is a stage in the development of the child, which corresponds to the period of study in primary school. The chronological boundaries of this age are different in different countries and in different historical conditions. These boundaries can be conditionally defined in the range from 6-7 to 10-11 years, their specification depends on the officially accepted terms of primary education.

The admission of a child to school poses a number of tasks for the institution during the period of work with younger students:

    to identify the level of his readiness for schooling and the individual characteristics of his activities, communication, behavior, mental processes, which will need to be taken into account in the course of training;

    if possible, compensate for possible gaps and increase school readiness, thereby preventing school maladaptation;

    plan the strategy and tactics of teaching the future student, taking into account his individual capabilities.

The solution of these problems requires a deep study of the psychological characteristics of modern schoolchildren who come to school with different "baggage" representing the totality of psychological neoplasms of the previous age stage - preschool childhood.

Each age stage is characterized by a special position of the child in the system of relations accepted in a given society. In accordance with this, the life of children of different ages is filled with specific content: special relationships with the people around them and special activities that lead to a given stage of development. I would like to note that L.S. Vygotsky singled out the following types of leading activity:

    babies - directly emotional communication;

    early childhood - manipulative activity;

    preschoolers - play activities;

    junior schoolchildren - educational activities;

    adolescents are socially recognized and socially approved activities;

    high school students - educational and professional activities.

Going to school radically changes the nature of a child's life. From the first days of schooling, the main contradiction arises - between the ever-growing demands that are placed on the personality of the child, his attention, memory, thinking, speech, and the current level of development. This contradiction is the driving force behind the development of the younger student. As the requirements increase, the level of mental development is pulled up to their level.

Primary school age is a qualitatively unique stage in the development of a child. The development of higher mental functions and the personality as a whole takes place within the framework of the leading activity at this stage (educational - according to the periodization of D.B. Elkonin), replacing in this capacity the game activity, which acted as the leading one in school age. The inclusion of the child in educational activities marks the beginning of the restructuring of all mental processes and functions.

Of course, it is far from immediately that younger students form right attitude to teaching. They do not yet understand why they need to study. But it soon turns out that teaching is a labor that requires strong-willed efforts, mobilization of attention, intellectual activity, and self-restraint. If the child is not used to this, then he gets disappointed, a negative attitude towards learning arises. In order to prevent this from happening, the teacher should inspire the child with the idea that learning is not a holiday, not a game, but serious, hard work, but very interesting, as it will allow you to learn a lot of new, entertaining, important, necessary things. It is important that the very organization of educational work reinforces the words of the teacher.

At first, he develops an interest in the very process of learning activity without realizing its significance. Only after the emergence of interest in the results of their educational work, an interest is formed in the content of educational activities, in the acquisition of knowledge. It is this basis that is fertile ground for the formation in the younger schoolchild of the motives for teaching a high social order, associated with a truly responsible attitude to studies.

The formation of interest in the content of educational activities, the acquisition of knowledge is associated with the experience of schoolchildren a sense of satisfaction from their achievements. And this feeling is reinforced by the approval, praise of the teacher, who emphasizes every, even the smallest success, the smallest progress forward. Younger students experience a sense of pride, a special upsurge of strength when the teacher praises them.

The great educational impact of the teacher on the younger ones is due to the fact that the teacher from the very beginning of the children's stay in school becomes an indisputable authority for them. The authority of the teacher is the most important prerequisite for education and upbringing in lower grades.

There is a functional improvement of the brain - the analytical and systematic function of the cortex develops; the ratio of the processes of excitation and inhibition gradually changes: the process of inhibition becomes more and more strong, although the process of excitation still predominates, and younger students are highly excitable and impulsive.

Educational activity in the primary grades stimulates, first of all, the development of mental processes of direct knowledge of the surrounding world - sensations and perceptions. Younger students are distinguished by sharpness and freshness of perception, a kind of contemplative curiosity.

The most characteristic feature of the perception of these students is its low differentiation, where they make inaccuracies and errors in differentiation when perceiving similar objects. The next feature of the perception of students at the beginning of primary school age is its close connection with the actions of the student. Perception at this level of mental development is associated with the practical activities of the child. To perceive an object for a child means to do something with it, to change something in it, to perform some action, to take it, to touch it. A characteristic feature of students is a pronounced emotional perception.

In the process of learning, perception is restructured, it rises to a higher level of development, takes on the character of a purposeful and controlled activity. In the process of learning, perception deepens, becomes more analyzing, differentiating, and takes on the character of organized observation.

Some age characteristics are inherent in the attention of students primary school. The main one is the weakness of voluntary attention. The possibilities of volitional regulation of attention, its management at the beginning of primary school age are limited. Arbitrary attention of a younger student requires the so-called close motivation. If older students maintain voluntary attention even in the presence of distant motivation (they can force themselves to focus on uninteresting and difficult work for the sake of a result that is expected in the future), then a younger student can usually force himself to work with concentration only if there is a close motivation (the prospect of getting an excellent mark, earn the praise of the teacher, do the best job, etc.).

Significantly better at primary school age developed involuntary attention. Everything new, unexpected, bright, interesting by itself attracts the attention of students, without any effort on their part.

Age-related features of memory in primary school age develop under the influence of learning. The role and proportion of verbal-logical, semantic memorization is strengthened and the ability to consciously manage one's memory and regulate its manifestations develops. In connection with the age-related relative predominance of the activity of the first signaling system, younger schoolchildren have more developed visual-figurative memory than verbal-logical memory. They better, faster remember and more firmly retain in memory specific information, events, persons, objects, facts than definitions, descriptions, explanations. Younger students are prone to rote memorization without understanding the semantic connections within the memorized material.

The main trend in the development of imagination in primary school age is the improvement of the recreative imagination. It is associated with the representation of previously perceived or the creation of images in accordance with a given description, diagram, drawing, etc. The recreating imagination is improved due to an increasingly correct and complete reflection of reality. Creative imagination as the creation of new images, associated with the transformation, processing of impressions of past experience, combining them into new combinations, combinations, is also developing.

Under the influence of learning, there is a gradual transition from cognition of the external side of phenomena to cognition of their essence. Thinking begins to reflect the essential properties and signs of objects and phenomena, which makes it possible to make the first generalizations, the first conclusions, draw the first analogies, build elementary conclusions. On this basis, the child gradually begins to form elementary scientific concepts.

Analytical and synthetic activity at the beginning of primary school age is still very elementary, is mainly at the stage of visual-effective analysis, based on the direct perception of objects.

Primary school age is the age of a fairly noticeable formation of personality. It is characterized by new relationships with adults and peers, inclusion in a whole system of teams, inclusion in the new kind activity is a teaching that imposes a number of serious requirements on the student. All this has a decisive effect on the formation and consolidation new system relations to people, the team, to teaching and related duties, forms character, will, expands the range of interests, develops abilities.

At primary school age, the foundation of moral behavior is laid, the assimilation of moral norms and rules of behavior takes place, and the social orientation of the individual begins to form. The nature of younger students differs in some features. First of all, they are impulsive - they tend to act immediately under the influence of immediate impulses, motives, without thinking and weighing all the circumstances, for random reasons. The reason is the need for active external discharge with age-related weakness of volitional regulation of behavior.

An age-related feature is also a general lack of will: the younger student does not yet have much experience in a long struggle for the intended goal, overcoming difficulties and obstacles. He can give up in case of failure, lose faith in his strengths and impossibilities. Often there is capriciousness, stubbornness. The usual reason for them is the shortcomings of family education. The child is accustomed to the fact that all his desires and requirements are satisfied, he did not see a refusal in anything. Capriciousness and stubbornness are a peculiar form of a child's protest against the firm demands that the school makes on him, against the need to sacrifice what he wants for the sake of what he needs.

Younger students are very emotional. Emotionality affects, firstly, that their mental activity is usually colored by emotions. Everything that children observe, what they think about, what they do, evokes an emotionally colored attitude in them. Secondly, younger students do not know how to restrain their feelings, control their external manifestation, they are very direct and frank in expressing joy. Grief, sadness, fear, pleasure or displeasure. Thirdly, emotionality is expressed in their great emotional instability, frequent mood swings, a tendency to affect, short-term and violent manifestations of joy, grief, anger, fear. Over the years, the ability to regulate their feelings, to restrain their undesirable manifestations, develops more and more.

Great opportunities are provided by the primary school age for the education of collectivist relations. For several years, the younger schoolchild accumulates, with proper upbringing, the experience of collective activity, which is important for his further development - activities in the team and for the team. The upbringing of collectivism is helped by the participation of children in public, collective affairs. It is here that the child acquires the basic experience of collective social activity.

    Norm, types of norm.

The norm - in a number of sciences about living organisms, including about man (medicine, biology, as well as sociology, etc.) is considered as a kind of reference point, standard, standard - for comparison with other options for the state of a living object (objects) (which can be considered as deviation, pathology).

The rule of law is a universally binding, formally defined rule of conduct established or sanctioned by the state, secured by its force, securing the rights and obligations of participants in public relations and being a criterion for evaluating behavior, both lawful and unlawful.

Social norms are understood as general rules and patterns, the behavior of people in society, due to social relations and resulting from the conscious activity of people. Social norms are formed historically, naturally. In the process of their formation, being refracted through the public consciousness, they are then fixed and reproduced in the relations and acts necessary for society. To some extent, social norms are binding on those to whom they are addressed, they have a certain procedural form of implementation and mechanisms for their implementation.

There are various classifications of social norms. The most important is the division of social norms depending on the characteristics of their emergence and implementation. On this basis, five varieties of social norms are distinguished: moral norms, customary norms, corporate norms, religious norms and legal norms.

Moral norms are rules of conduct that are derived from people's ideas about good and evil, about justice and injustice, about good and bad. The implementation of these norms is ensured by public opinion and the internal conviction of people.

The norms of customs are the rules of behavior that have become a habit as a result of their repeated repetition. The implementation of customary norms is ensured by the force of habit. Customs of moral content are called mores. Traditions are considered to be a variety of customs, which express the desire of people to preserve certain ideas, values, and useful forms of behavior. Another kind of customs are rituals that regulate the behavior of people in everyday, family and religious spheres.

Corporate norms are the rules of conduct established by public organizations. Their implementation is ensured by the internal conviction of the members of these organizations, as well as by the public associations themselves.

Religious norms are understood as the rules of conduct contained in various sacred books or established by the church. The implementation of this type of social norms is provided by the internal beliefs of people and the activities of the church.

Legal norms are rules of conduct established or sanctioned by the state, while church norms are rights established or sanctioned by the state, and sometimes directly by the people, the implementation of which is ensured by the authority and coercive power of the state.

Different types of social norms did not appear simultaneously, but one after another, as needed.

With the development of society, they became more and more complicated.

Scientists suggest that the first type of social norms that arose in primitive society were rituals. A ritual is a rule of conduct in which the most important thing is a strictly predetermined form of its execution. The content of the ritual itself is not so important - it is its form that matters most. Rituals accompanied many events in the life of primitive people. We know about the existence of rituals of seeing off fellow tribesmen for hunting, taking office as a leader, presenting gifts to leaders, etc. Somewhat later, rituals began to be distinguished in ritual actions. Rites were rules of conduct, consisting in the performance of certain symbolic actions. Unlike rituals, they pursued certain ideological (educational) goals and had a deeper impact on the human psyche.

The next social norms in time, which were an indicator of a new, higher stage in the development of mankind, were customs. Customs regulated almost all aspects of the life of primitive society.

Another type of social norms that arose in the era of primitiveness were religious norms. Primitive man, aware of his weakness before the forces of nature, attributed to the latter a divine power. Initially, the object of religious admiration was a real-life object - a fetish. Then a person began to worship any animal or plant - a totem, seeing in the latter his ancestor and protector. Then totemism was replaced by animism (from the Latin "anima" - soul), i.e., belief in spirits, the soul, or the universal spirituality of nature. Many scientists believe that it was animism that became the basis for the emergence of modern religions: over time, among supernatural beings, people singled out several special ones - gods. So the first polytheistic (pagan), and then monotheistic religions appeared.

In parallel with the emergence of norms of customs and religion, moral norms were also formed in primitive society. It is impossible to determine the time of their occurrence. We can only say that morality appears along with human society and is one of the most important social regulators.

During the emergence of the state, the first rules of law appear.

Finally, corporate norms emerge most recently.

All social norms have common features. They are rules of conduct of a general nature, that is, they are designed for repeated use, and operate continuously in time in relation to a personally indefinite circle of persons. In addition, social norms are characterized by such features as procedural and sanctioned. The procedural nature of social norms means the presence of a detailed regulated order (procedure) for their implementation. Sanctioning reflects the fact that each of the types of social norms has a certain mechanism for the implementation of their prescriptions.

Social norms define the boundaries of acceptable behavior of people in relation to the specific conditions of their life. As already mentioned above, compliance with these norms is usually ensured by the internal beliefs of people or by applying social rewards and social punishments to them in the form of so-called social sanctions.

Social sanction is usually understood as the reaction of society or a social group to the behavior of an individual in a socially significant situation. According to their content, sanctions can be positive (encouraging) and negative (punishing). There are also formal sanctions (coming from official organizations) and informal (coming from informal organizations). Social sanctions play a key role in the system of social control, rewarding members of society for the implementation of social norms or punishing for deviation from the latter, i.e. for deviance.

Deviant (deviant) is such behavior that does not meet the requirements of social norms. Sometimes such deviations can be positive and lead to positive consequences. Thus, the well-known sociologist E. Durkheim believed that deviation helps society gain a more complete picture of the diversity of social norms, leads to their improvement, promotes social change, revealing alternatives to already existing norms. However, in most cases, deviant behavior is spoken of as a negative social phenomenon that is harmful to society. Moreover, in a narrow sense, deviant behavior means such deviations that do not entail criminal punishment, are not crimes. The totality of the criminal actions of an individual has a special name in sociology - delinquent (literally - criminal) behavior.

Based on the goals and direction of deviant behavior, its destructive and asocial types are distinguished. The first type includes deviations that harm the person himself (alcoholism, suicide, drug addiction, etc.), the second - behavior that harms people's communities (violation of the rules of conduct in public places, violation of labor discipline, etc.).

Investigating the causes of deviant behavior, sociologists drew attention to the fact that both deviant and delinquent behavior are widespread in societies undergoing a transformation of the social system. Moreover, in conditions of a general crisis of society, such behavior can become total.

The opposite of deviant behavior is conformist behavior (from Latin conformis - similar, similar). Conformist is called social behavior that corresponds to the norms and values ​​​​accepted in society. Ultimately, the main task of normative regulation and social control is the reproduction in society of precisely the conformist type of behavior.

.Psychological diagnosis: concept, types, functions.

Psychological diagnosis (diagnosis, from the Greek. diagnosis - recognition) is the end result of a psychologist's activity aimed at describing and elucidating the essence of individual psychological characteristics of a person in order to assess their current state, predict further development and develop recommendations, determined by the task of psychodiagnostic examination. The medical understanding of the diagnosis, firmly linking it with a disease, a deviation from the norm, was also reflected in the definition of this concept in psychology. In this understanding, a psychological diagnosis is always the identification of a hidden cause of a discovered ill-being. Such views (for example, in the works of S. Rosenzweig (S. Rosenzweig)) lead to an unjustified narrowing of the subject of psychological diagnosis, everything that is associated with the identification and consideration of individual psychological differences in the norm falls out of it. Psychological diagnosis is not limited to ascertaining, but must include the foresight and development of recommendations arising from the analysis of the totality of data obtained during the examination in accordance with its objectives. The subject of psychological diagnosis is the establishment of individual psychological differences both in normal and pathological conditions. The most important element of psychological diagnosis is the need to find out in each individual case why these manifestations are found in the behavior of the subject, what are their causes and consequences.

Diagnosis types: - Diagnosis that reveals the presence / absence of certain personality traits and qualities (presence / absence of accentuations). - A diagnosis that allows you to find the place of the subject or group according to the severity of certain qualities. = Conducting comparisons within the surveyed sample, ranking, introducing indicators of high, medium and low levels of development of the studied features by correlation with some criterion, standard (low, medium or high degree of readiness for risk). Possible levels of diagnosis: 1) Symptomatic - a statement of individual characteristics or symptoms, on the basis of which practical conclusions are built 2) Etiological - takes into account not only the presence of features (symptoms), but also the causes of their occurrence. 3) Typological - determines the place and significance of the data obtained in a holistic picture of the development of the child.

1. The implementation of the diagnosis of activity, behavior, i.e., description, analysis and characterization of the behavior of the subject.

2. Implementation of the diagnosis of the processes of regulation of activity or the study of mental processes due to which the activity is carried out.

3. The implementation of the diagnosis of regulatory mechanisms, the mechanisms of mental processes on which their course depends - the diagnosis of systems of nervous connections.

4. Diagnosis of the genesis of regulatory mechanisms or the answer to the question of how and under what conditions the psyche of a given individual was formed.

Implementation of the screening method.

Screening - conducting simple and safe studies of large population groups in order to identify risk groups for the development of a particular pathology.

This method is very important and allows you to identify various pathologies in the prenatal and neonatal periods, achieve a decrease in the frequency of detection of common forms, an increase in the frequency of detection of early forms of cancer and an improvement in survival.

Prenatal screening - studies conducted by pregnant women in order to identify risk groups for pregnancy complications. Prenatal screening usually includes ultrasound and biochemical screening. According to the gestational age, screening of the first and second trimester is distinguished. Neonatal screening - a mass examination of newborns for the most common congenital diseases. A drop of blood from the heel is taken from each newborn on a special test form, which is sent to the medical genetic consultation for research. If a marker of the disease is found in the blood, parents with a newborn child are invited to a medical genetic consultation for a second blood test to confirm the diagnosis and prescribe treatment. In the future, dynamic monitoring of the child is carried out. Neonatal screening makes it possible to ensure early detection of hereditary diseases and their timely treatment, to stop the development of severe manifestations of diseases leading to disability. Neonatal screening can prevent complications of such diseases as hypothyroidism, phenylketonuria, cystic fibrosis, galactosemia, adrenogenital syndrome.

Screening methods also include laboratory tests that allow you to determine the types of various infectious pathogens, ultrasound research methods, tomography, PCR, ELISA and many other tests.

The purpose of screening is high quality detection of pathology, but there are a number of problems here. False-positive and false-negative conclusions are a serious problem.

For a sufficient level of screening tests to be performed, a number of conditions must be met:

1. Informing the population about screening.

2. Providing reliable and high-quality accounting, storage and reproduction of information.

3. Principles of questioning the population. At the moment, a questionnaire has been created in Ukraine, which includes 20 questions. However, the answers cannot be used to make a decision in medicine, as they contain only the personal impressions of the respondents and do not coincide with the conclusions of qualified doctors.

4. Evaluation of any type of screening according to the criterion "medical efficiency-cost".

5. An important issue is the decision of who can evaluate the results and in whose interests the screening is carried out.

Mass examination practically healthy population aimed at identifying people suffering from any diseases, preferably at an early stage. Diagnostic methods, which are used for screening, should be fast, convenient, cheap, have sufficient sensitivity to detect early stages, when the person himself does not yet complain, but also not lead to large overdiagnosis.

In medical practice, the word "screening" refers to various examinations and tests that allow preliminary identification of people among whom there is a higher chance of having a certain disease or condition than other people in this study group.

Screening results do not confirm or refute the diagnosis. Screening is only the first step in the examination of a group of people who, if positive, need to be further examined in order to finally make a diagnosis or remove it.

Pregnancy screening and newborn screening are very important because they provide an opportunity to detect pathological conditions and illnesses at the stage intrauterine development or in the first month of life. Patients should be properly informed about the importance of screening, screening norms and deviations from it. Screening for certain weeks of pregnancy allows you to identify characteristic problems during these periods.

The main indicators of screening tests used are sensitivity and specificity, as well as predictive value and efficiency. The sensitivity of screening is determined by its ability to accurately identify people who have a detectable disease. The specificity of screening is characterized by the ability to identify those who do not have the disease.

The predictive value of screening is determined by the probability of the presence of the disease, provided that the result of screening is known. The effectiveness of screening assays is assessed based on the likelihood ratio. It summarizes the specificity, sensitivity, and predictive value of positive and negative screening responses.

Screening during pregnancy

The risk that future child may be born with any chromosomal pathology or congenital disease is always there. It is different for all women. Allocate basic risk and individual. The base risk is also called the initial risk. Its value depends on how old the pregnant woman is and at what stage of pregnancy she is. The individual risk is calculated after the tests and screening tests are carried out, taking into account the baseline risk data.

Screening during pregnancy is also called prenatal diagnosis. These tests are carried out in most developed countries.

These include:

  • Biochemical blood test;
  • Ultrasound diagnostics (ultrasound screening);
  • Invasive diagnostics (examination of chorionic villi, sampling of amniotic fluid, cord blood, placental cells for examination).

Why is weekly screening necessary during pregnancy?

Weekly screening during pregnancy plays a significant role in diagnosing anomalies in the development of the unborn child and genetic abnormalities in him. Screening during pregnancy makes it possible to identify individuals at risk for the development of the above problems. In the future, an in-depth examination of pregnant women takes place to confirm or refute the alleged diagnosis.

Each screening is carried out for certain weeks of pregnancy, the direction for which is written out by the district obstetrician-gynecologist. After receiving a positive screening result, the family is offered an invasive intervention to obtain the genetic material of the unborn child. They can be chorionbiopsy and amniocentesis. Amniocentesis involves a fence amniotic fluid, which have in their composition desquamated epithelial cells of the fetus. Chorionic biopsy is the collection of chorionic villus cells.

Having confirmed a severe illness in the fetus, the family consults on possible termination of pregnancy. It is obligatory to consult a geneticist with full information about the disease, its prognosis, existing methods treatment. If the family decides to bear a child with certain malformations or genetic abnormalities, then the woman is sent for childbirth to the appropriate hospital, which specializes in the management of such patients.

Weekly screenings in pregnant women can detect deviations from normal values in the development of the fetus and complications of ongoing pregnancy. There are 3 screenings by weeks of pregnancy.

  • 1 screening (10-14 weeks);
  • 2 screening (15-20 weeks, 20-24 weeks);
  • 3 screening (32-36 weeks).

Which trimester screening is the most important?

The first screening during pregnancy can be considered the most significant. Ultrasound of a developing fetus allows you to confirm the presence of pregnancy, to estimate how many children are expected in the family. Evaluation of the fetal structure and detection of developmental anomalies are extremely important during these weeks. In addition to ultrasound, the expectant mother will have to donate blood from a vein for analysis ─ screening for possible chromosomal disorders.

1 screening provides preliminary results indicating the health of the child. If necessary, the woman is then sent for additional examinations.

First screening during pregnancy

Screening of the 1st trimester is a very exciting event for mothers who are expecting babies. It is the most important of all three screenings by week of pregnancy. It is at this stage that the mother first hears the conclusions of doctors about how the child develops and whether he has health problems. Sometimes the results of the studies are disappointing, which leads to a deeper examination of the pregnant woman. These surveys allow you to solve the difficult issue of prolonging or terminating this pregnancy. Ideally, the first screening is at 12 weeks of gestation (± 2 weeks). The attending physician will tell you the screening standards.

When is the 1st trimester screening done?

Screening of the 1st trimester is carried out at 10 - 14 weeks of gestation, best before 12 weeks of obstetric gestation. Therefore, it is necessary to determine the gestational age as accurately as possible so as not to make the first screening early or vice versa late. Future mom should understand the need for prescribed procedures and not rush to do fetal ultrasound in private clinics at her own discretion.

This is due to the fact that the screening of the 1st trimester includes not only an ultrasound examination of the child, but also a study of the biochemical parameters of the blood. They must be done on the same day. Often, a full screening of the 1st trimester can only be done in certain clinics in the city. This is done for free. The local gynecologist will tell you more about the screening of the 1st trimester, he will also give the necessary directions for research. In the future, based on the results of the screening of the 1st trimester, additional analyzes of the pregnant woman and consultations by her various specialists may be required.


The first screening is recommended between 10 and 14 weeks of gestation, but many doctors try to prescribe screening before 12 weeks. In this period, it is best to evaluate the studied blood parameters and avoid unnecessary false positive results. Equally important, as soon as possible, a woman should be examined additionally if screening results are positive before 12 weeks. The pregnancy may need to be terminated. The sooner this is done, the fewer complications await the expectant mother.

What does 1 screening include?

1 screening in pregnant women is called a combination test. It combines the study of biochemical parameters (markers) of blood and ultrasound data.

The studied indicators of blood biochemistry include: the value of b-hCG (free β-subunit of human chorionic gonadotropin) and placental protein (protein) associated (associated) with pregnancy. Ultrasound signs (markers) of screening 1 include measuring the thickness (size) of the collar space (NTP) in developing child.


Ultrasound screening is used at all weekly screenings for expectant mothers. 1 screening during pregnancy certainly involves an ultrasound examination of the fetus. The doctor evaluates where the fetal egg is located (in the uterus or not), how many embryos develop in the uterus, what is the activity of the heart of the embryo and its physical activity whether all organs and limbs are correctly laid down. In addition, the following structures are evaluated: yolk sac, chorion, umbilical cord, amnion. You can see if there is a threat of termination of a developing pregnancy, if there are any concomitant pathologies of the uterus and ovaries (developmental features, tumors, etc.)

An ultrasound marker that is used when deciphering screening is the thickness (size) of the collar space (NTP) in a child. This indicator characterizes the accumulation of fluid under the skin of a child in the neck from the back.

It is best to measure the size of the collar space at 11-14 weeks of gestation. At the same time, the size of the embryo from the coccyx to the crown of the head (coccygeal-parietal size ─KTR) is 45-84 mm. As the KTR increases with the correct development of the fetus, the TVP should increase.

Based on the size of the collar space and the initial risk of the mother, an individual risk is calculated for the presence of abnormalities in the fetus. TVP during ultrasound screening must be measured very carefully, to tenths of a millimeter. Therefore, modern high-quality equipment should be used for 1 screening.

An increase in the size of the TVP during ultrasound screening is associated with the risk of trisomy 18 and 21 chromosomes, Turner syndrome and other genetic diseases and congenital anomalies.

With Down's syndrome in a child at the screening of the 1st trimester, the value of b-hCG in the woman's bloodstream is increased, and the content of placental protein, on the contrary, is less than normal. False positive test results occur in 5% of cases. With trisomy 13 and 18 chromosomes, the concentration of both proteins in the bloodstream of the expectant mother simultaneously decreases.

There is a two-stage screening method for the 1st trimester. The first stage includes ultrasound screening and the study of the necessary biochemical blood parameters described above. After calculating the individual risk in a pregnant woman, a decision is made on the further management of pregnancy. That is, if the risk of genetic (chromosomal) disorders is high (more than 1%), the family is invited to study the chromosome set of the developing child (karyotype). At low risk (less than 0.1%), standard management of the pregnant woman continues.

It happens that the risk of chromosomal rearrangements is estimated as average (0.1-1%). Then it is best to undergo another ultrasound examination of the fetus. On such an ultrasound, the following parameters are studied: the size of the nasal bone, the velocity of blood in the venous duct, the velocity of blood through the tricuspid valve. If the ultrasound doctor notes that the bones of the child's nose are not visible, reverse blood flow (reverse) is detected in the venous duct and regurgitation on the tricuspid valve, then fetal karyotyping is indicated.

Such screening during pregnancy helps to recognize most chromosomal pathologies in a child, while false positive results occur only in 2-3% of cases.

Blood chemistry

The studied indicators in the mother's bloodstream at the first screening are b-hCG and placental pregnancy-associated protein (PAPP-A). Screening should be deciphered only by specialists who are trained in this. It is impossible to interpret the results of studying the biochemical parameters of blood on your own. Different population groups have their own norms.

  • β-subunit of hCG

Human chorionic gonadotropin (hCG) is a glycoprotein that consists of two parts (a and b subunits). The first is a component of various hormones of the human body. These include luteinizing hormone, follicle-stimulating hormone, and thyroid-stimulating hormone. But the second (b-subunit) is part of only hCG. Therefore, it is she who is determined to diagnose pregnancy and its complications.

HCG is synthesized in the tissue of the trophoblast, which is involved in the formation of the placenta. A day after the introduction of a fertilized egg into the endometrium, the synthesis of hCG begins. This glycoprotein is needed in order to help form progesterone by the corpus luteum at the very beginning of embryonic development. HCG also enhances the formation of testosterone in male embryos and affects the adrenal cortex of the embryo.

In humans, hCG can increase not only when carrying a child, but also with certain tumors. Therefore, it is possible to increase the level of hCG even in men, which indicates trouble in the body.

HCG is the basis of pregnancy tests. During pregnancy hCG level gradually increases up to 60-80 days after the last menstruation. Then its level decreases to 120 days, after which it remains stable until childbirth.

Whole hCG molecules and free a and b subunits circulate in the bloodstream of expectant mothers. In the 1st trimester, the content of free b-hCG is 1-4%, and in the 2nd and 3rd trimesters it is less than 1%.

If the fetus has chromosomal abnormalities, then the content of free b-hCG increases faster than the total value of hCG. This makes the study of the content of b-hCG acceptable precisely in the 1st trimester of pregnancy (at 9-12 weeks).

With Down syndrome, the amount of free chain hCG is increased. This is noted already in the 1st trimester. The content of the dimeric form of hCG is noted only in the 2nd trimester. In some diseases, the content of hCG decreases. These include Edwards syndrome and other genetic disorders.

The level of b-hCG can increase not only with genetic abnormalities in the child, but also with other problems and conditions of pregnancy: bearing twins or triplets, severe toxicosis, taking certain medications, maternal diabetes, etc.

  • Placental protein associated (associated) with pregnancy

Placental pregnancy-associated protein is a protein that is synthesized by the trophoblast. Throughout pregnancy, the content of this protein increases until the birth itself. By 10 weeks of gestation, its concentration increases 100 times. If the first screening determines the normal value of the placental protein, then with a probability of 99% we can say that the outcome of the pregnancy will be good. The content of this protein is not related to the sex of the fetus and its weight.

In the 1st trimester and the beginning of the 2nd trimester, with genetic disorders in a child, the content of the placental protein associated with pregnancy is significantly reduced. At 10-11 weeks of gestation, this is especially clearly seen. Thus, a sharply reduced concentration of this protein during the first screening is observed with trisomy 18, 21, and 13 chromosomes. This is slightly less pronounced with aneuploidy for sex chromosomes and trisomy 22 chromosomes.

A low concentration of placental protein associated with pregnancy occurs in other situations. These include: miscarriages, fetal growth retardation, childbirth ahead of schedule, stillbirth.


The second screening during pregnancy is very important for the prenatal diagnosis of congenital anomalies in the development of the fetus and the detection of chromosomal diseases. Determination of the risk of chromosomal abnormalities of the unborn child must be done, taking into account the data of the first screening at 12 weeks of pregnancy (± 2 weeks).

When is the 2nd trimester screening done?

Screening of the 2nd trimester is carried out during pregnancy, starting at 15 weeks. From the 15th to the 20th week of pregnancy, a woman donates blood from a vein. From 20 to 24 weeks of gestation, a second ultrasound of the fetus is performed. The referral for the second screening is given by an obstetrician-gynecologist who will see the woman through pregnancy. As a rule, screening 2 is carried out in the same medical institution where the woman is observed. If necessary, the woman is given a referral to the appropriate medical institution. The second screening is free of charge.

What does screening 2 include?

Screening of the 2nd trimester includes a biochemical blood test and ultrasound of the fetus. In the blood, the content of alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol is examined.

Alpha fetoprotein

Alpha-fetoprotein is a protein that is produced in the yolk sac of the embryo, the liver of the fetus and its organs of the gastrointestinal tract. The fetal kidneys excrete AFP into the amniotic fluid, from where it enters the mother's bloodstream. This process begins at 6 weeks of pregnancy. Starting from the end of the first trimester, the concentration of AFP in the mother's blood increases, reaching the highest values ​​by 32-33 weeks of pregnancy.

If AFP is reduced during the second screening, and the hCG level is high, then the risk of trisomy in the fetus (including Down syndrome) is high. A high level of AFP at screening 2 may also indicate fetal distress, in particular, a high risk of developing neural tube defects, kidneys, malformations of the esophagus, intestines, and anterior abdominal wall.

Unconjugated estriol

Unconjugated estriol is one of the estrogens that play a large role in the female body. This hormone is produced in the fetal liver, adrenal glands and placenta. Only a small part of unconjugated estriol is formed in the maternal body.

Normally, the level of unconjugated estriol increases with gestational age. Its reduced level during screening of the 2nd trimester may be due to Down syndrome, the absence of the fetal brain. Sometimes it decreases before the threat of termination of pregnancy or before childbirth before term.

Having studied only AFP and hCG during the second screening, in 59% of cases it is possible to detect Down syndrome in the fetus. If unconjugated estriol is included in this assay, screening will be effective in 69% of cases. If screening 2 included only AFP, then its effectiveness would be three times less. By replacing the assay for unconjugated estriol with dimeric inhibin A, 2nd trimester screening efficiency can be increased to almost 80%.

2nd trimester fetal ultrasound

In addition to taking venous blood from a woman at the 2nd screening, she will have to undergo an ultrasound examination of the fetus for the second time during pregnancy. The optimal time for fetal ultrasound is 20-24 weeks. During ultrasound screening of the 2nd trimester, the doctor assesses the growth dynamics of the child, whether there is a delay in his development, the presence or absence of congenital anomalies, markers of chromosomal pathology. In addition to studying the structures of the fetus, the location of the placenta, its thickness and structure, and the volume of amniotic fluid are assessed.


The third screening during pregnancy is final. The expectant mother already has 2 screenings behind her, the results of which must be brought with you to the 3rd screening. The direction for 3rd screening is given by the local obstetrician-gynecologist, it is free of charge.

When is the 3rd trimester screening done?

3 screening is carried out in the period from 32 to 36 weeks of pregnancy. Some women are already in the hospital during this period due to various deviations in the course of pregnancy. In that case, it's probably all necessary research she will be treated at the hospital where she is staying.

What does the 3rd screening include?

3 screening includes ultrasound of the fetus, cardiotocography, if necessary, doplerometry and a biochemical blood test.

fetal ultrasound

An ultrasound examination of the fetus at the 3rd screening evaluates its presentation, development, developmental delay, the nature and structure of the placenta and its location, the amount of amniotic fluid, the development and activity of the organs and systems of the fetus, its motor activity is assessed, whether there is an entanglement of the neck with the umbilical cord. Once again, all limbs and organs are carefully examined for the presence of congenital malformations. Even if previously missed malformations are detected, the pregnancy is no longer interrupted, since the fetus is viable. In this case, the mother is sent for delivery to the appropriate maternity hospital.

Cardiotocography (CTG)

CTG in some hospitals is done to all expectant mothers during the 3rd screening. In other medical institutions, this is done according to indications, when there are suspicions that the child is not well. With CTG, a special sensor is installed on the mother's abdomen, which records the fetal heartbeat. Mom during the procedure notes the movements of the child. After evaluating the fetal heart rate over a certain period of time and its response to stress, the doctor concludes whether the child suffers from hypoxia (oxygen starvation) or not.

Doppler

This study is similar to ultrasound, it can even be carried out simultaneously with it by the same apparatus and by the same doctor. Allows doplerometry to assess blood flow in the mother-placenta-fetus system. The nature of the blood flow and its speed, vascular patency are assessed. According to the results of such a study, sometimes it is necessary to resort to early delivery due to the serious hypoxia of the baby. This allows you to save the life and health of the child.

Blood chemistry

3 screening includes a biochemical blood test in the event that the results of screening of the 1st and 2nd trimester did not fit into the norm. The levels of b-hCG, placental protein associated with pregnancy, unconjugated estriol and placental lactogen are being investigated. If the indicators of these tests are normal, the probability of having a healthy child is high.


Newborn screening (neonatal screening) is a set of measures that allows you to suspect certain diseases in a child at the preclinical stage of their development and start treating them in a timely manner.

At the stage of the maternity hospital, all children undergo two screening tests: newborn audiological screening and screening for hereditary diseases.

Audiological screening of the newborn

All newborn babies go through audiological screening. This test is done to detect congenital hearing loss or early neonatal problems. For the study of hearing, a special device is used that registers and analyzes the delayed evoked otoacoustic emission. Before the examination, the neonatologist examines the child's risk factors for the development of hearing impairment. Their list is very wide. Often, one child may have several factors provoking hearing loss at once.

Timing of newborn screening

The timing of audiological screening is 3-5 days after birth in full-term babies, that is, before discharge. Premature babies can be examined later, 6-7 days after birth. Premature babies are at the highest risk of developing hearing problems.

The screening device is compact and easy to use. The procedure itself is simple, does not bring discomfort to children. Screening can be done while your baby is sleeping and while breastfeeding.

What influences screening results?

After the test, the instrument displays the result: “passed” or “failed”.

Children who have not passed an audiological test at the stage of the maternity hospital are referred to an audiologist for in-depth diagnosis of the disease and, if necessary, prescribing early treatment and rehabilitation measures.

There are many children who did not pass the test from one ear or from both sides. This does not mean that everyone has hearing loss. There are other factors that can affect the test result. The most common of these factors are:

  • The child lay on a certain side for a long time before the procedure ─ for a certain period of time, the test may not be passed.
  • Sulfur or primordial grease has accumulated in the external auditory canal, which interferes with the test.
  • Extraneous noise, defective battery of the device, insufficient experience of the researcher.

Newborn screening for hereditary diseases

Screening for genetic diseases in newborns in our country has been carried out for more than 30 years. At first, it included only one disease ─ phenylketonuria. After 8 years, newborns were examined for another serious disease - congenital hypothyroidism. In 2006, neonatal screening was supplemented by three more diseases ─ adrenogenital syndrome, cystic fibrosis and galactosemia.

What test is screening for a newborn?

According to requirements world organization health care, screening a newborn for certain diseases is possible and justified in the following cases:

  • The disease must be fairly common in the population being examined;
  • The symptoms of the disease and its laboratory markers should be studied in detail;
  • The benefits of screening should outweigh the costs of screening for very severe illnesses;
  • There should be no false-negative screening results so that there are no missed patients;
  • There should not be so many false positive answers so as not to spend extra money on re-diagnosis;
  • The analysis included in the screening should be safe for children and easy to perform;
  • Identified diseases should respond well to treatment;
  • It is necessary to know until what age it is not too late to start treatment so that it gives the desired effect.

All diseases for which newborns are examined in Russia, according to the neonatal screening program, meet these requirements.


Newborn screening is carried out in several stages. It is important to meet the deadlines for newborn screening so as not to lose sight of any sick child and start treating them in time.

Stage 1 is the collection of capillary blood from newborns in maternity hospital for analysis. The timing of screening depends on whether the baby is full-term or not. Full-term babies are examined on the 4-5th day of life, premature babies - on the 7th day. picks up nurse from the heel of the child. For blood sampling, there are special forms made of filter paper, on which several circles are applied. These mugs need to be soaked evenly with drops of blood from 2 sides. The blanks are then dried. Dried blanks are transported to the laboratory of medical genetic consultation (MGC).

Stage 2 screening of newborns includes the determination of the necessary laboratory parameters in the blood. Established screening dates allow patients to be suspected in a timely manner, to confirm the disease if present, and to start treating it early.

Stage 3 applies only to those children whose screening results are positive. The same MGK laboratory conducts a second diagnosis. DNA diagnostics of the disease is carried out in federal centers.

Stage 4 covers those children whose disease is confirmed by laboratory and genetic testing. Life-saving treatment of the disease is prescribed. Doctors of different specialties take part in the therapy and management of children. If the timing of screening is observed, treatment of sick children begins even before they reach the age of one month.

Stage 5 of the screening program includes medical genetic counseling for families with a sick child and genetic diagnosis of family members where a child with a genetic disease was born. This is necessary to determine the further risk of having sick children in the family.

Screening standards for hereditary diseases

Screening rates for hereditary diseases are different for each disease in this group. The concentrations of essential hormones and enzymes involved in human metabolism are studied. With their pathological values, repeated testing of children is prescribed. Then the final diagnosis is established and treatment is prescribed.

Parents do not need to know the screening standards, this is the lot of a pediatrician and genetics. It is they who select children from risk groups and send them for further examination.

What conditions are newborns screened for?

Five diseases are included in the list of those diseases for which all newborn children in our country are examined. These diseases are well studied and successfully treated with timely diagnosis. Neonatal screening diseases include:

  • Phenylketonuria;
  • adrenogenital syndrome;


Cystic fibrosis is a very serious disease caused by a mutation in one of the genes. This gene is responsible for the formation of a protein that plays the role of a channel in the cells of the human body for chlorine. If this channel is disrupted, mucus and viscous secrets of a different nature accumulate in the cells of some organs. The affected organs are the lungs, pancreas, intestines. In the organs involved in the pathological process, a chronic infection begins to develop.

There are several forms of the disease: affecting the intestines, affecting the lungs and a mixed form. The latter is the most frequent. In the pulmonary form, patients suffer from chronic bronchopulmonary inflammation with an obstructive component. Gradually, the body begins to suffer from oxygen starvation. The intestinal form is accompanied by digestive problems, as the pancreatic ducts are clogged and the necessary enzymes are not transported to the intestines. Children begin to lag behind in growth and psychomotor development. The mixed form combines the defeat of both the lungs and the intestines.

Treatment of patients is very difficult and expensive. Enzyme preparations are constantly needed to digest food, antibiotics to treat infections, inhalations to thin sputum, and other therapies. At good treatment life expectancy can reach 35 years or more. Many die in childhood or adolescence due to the development of secondary problems (respiratory and heart failure, layering of severe infection, etc.).

Understanding Cystic Fibrosis Screening

The sooner the screening is decoded for, the better the prognosis for sick children will be. In stains of dried blood when screening for cystic fibrosis, the amount of immunoreactive trypsin is determined. With an increased amount, another test is performed. To confirm the diagnosis with a positive screening result, the newborn is shown a sweat test at 3-4 weeks of age. A negative sweat test result indicates that the child is healthy, although it requires further careful observation for some time. A positive test indicates that the child has cystic fibrosis, even if there are no clinical manifestations of the disease yet.

Phenylketonuria

Phenylketonuria is a severe genetic disease. Sick family members are in the same generation. The essence of the disease lies in the mutation of the gene responsible for the activity of one of the important enzymes. It is called phenylalanine hydroxylase and is needed to utilize the amino acid phenylalanine. It is the precursor of tyrosine. Due to a genetic mutation, phenylalanine accumulates in the bloodstream. His a large number of is toxic to the body, namely to the developing brain. Almost all sick children who do not receive treatment for the disease become mentally retarded, their development is very delayed. Often there are convulsions, various behavioral disorders. The most important thing in the treatment of the disease is a diet without phenylalanine and the intake of special mixtures that help maintain the content of other amino acids in the body at a normal level.

Explanation of screening for phenylketonuria

Deciphering screening for phenylketonuria is very important, because timely started therapy gives children the opportunity to fully develop. The amount of phenylalanine in the blood is studied, which is taken from children in the first week of life on filter paper. When a positive result is obtained, a second test is required, then patients are already identified.


Congenital hypothyroidism is a serious thyroid disease that is part of the newborn screening program. The disease is caused by various dysfunctions of the thyroid gland (complete or incomplete), which produces important hormones. These hormones are iodine-containing, they are needed for proper growth and mental development child. If the thyroid gland is absent or underdeveloped, then it becomes insufficient. Clinical manifestations of the disease are very diverse, they depend on the degree of dysfunction. But only early treatment with thyroid hormones will help the child grow up as a full-fledged person and not differ from their peers. Without treatment, a person will remain disabled for life. The disease can be inherited, or it can occur for unknown reasons. It is one of the most common diseases included in the newborn screening program. A pediatrician, a geneticist and an endocrinologist are involved in the treatment and observation of sick children.

Deciphering screening for congenital hypothyroidism

To identify sick children, the content of thyroid-stimulating hormone (TSH) in blood stains taken from newborns is studied. Elevated TSH in a child is a signal for re-testing. According to the results of the second test, sick children are identified. Some patients undergo molecular genetic analysis to identify the cause of the disease. Although this is not always necessary, since the treatment of the disease is the same and consists in hormone replacement therapy.

adrenogenital syndrome

Adrenogenital syndrome refers to hereditary diseases. With it, the exchange of hormones in the adrenal cortex is disturbed. Due to the mutation of the gene that is responsible for the work of the enzyme steroid 21-hydroxylase, the exchange of cortisol and aldosterone and their precursors is incorrect. Their precursors begin to accumulate in the bloodstream and cause an increased production of androgens. These are male sex hormones, they also accumulate in the blood and cause the development of a vivid clinical picture of the disease.

There are three forms of the disease:

  • Salt-losing is the most severe, life-threatening.

The external genitalia of girls at birth resemble those of boys. In boys, outward signs of the disease are not visible. But from the first weeks of life, crises are noted due to a pronounced loss of salt. Crises are manifested by severe vomiting, dehydration, convulsive syndrome, disruption of the heart muscle.

  • The simple viril form is less severe in terms of life threatening.

From birth, the external genitalia of girls closely resemble the male genital organs. Early in children of both sexes, secondary sexual characteristics appear, moreover, according to the male type.

  • Non-classical form ─ begins not at birth, but at puberty.

Girls do not have periods, the mammary glands develop poorly, hair growth occurs like in men.

Treatment of patients is carried out under the control of a geneticist and endocrinologist, hormonal preparations are prescribed.

Deciphering screening for adrenogenital syndrome

When deciphering the analysis for adrenogenital syndrome, the content of 17-hydroxyprogesterone in the blood of newborns is studied. If the values ​​do not fit into the screening norm, then a retest is assigned, and sick children are identified based on the results. The sooner the diagnosis is made and treatment initiated, the better the outcome for affected children.


Galactosemia is a genetic disease that affects metabolism, namely the metabolism of galactose. Galactose is a milk sugar found in mother's milk and the milk of other animals. With this disease, there is an increase in the level of galactose in the blood. Symptoms of the disease begin in the first month of life. These include vomiting, jaundice, loose stools, liver enlargement, cataracts, mental and motor development as well as impaired renal function. These symptoms are characterized by the classic form. There is another form of the disease in which there is deafness instead of a cataract. Diet is very important in treatment. Mother's milk and milk formulas are excluded. The child is prescribed special soy mixtures that do not contain galactose.

Screening for galactosemia

When studying the blood of newborns, the content of galactose or galactose-1-phosphate in it is examined. If their indicators do not fit into the screening standards, then a retest is assigned. High galactose or low enzyme levels in both tests support the diagnosis of galactosemia. Obligatory examination and counseling of the child by a geneticist. Early therapy helps to avoid complications of the disease and gives the child a chance to grow up healthy.