Screening otherwise 15 letters scanword. What is screening? The meaning and interpretation of the word screening, the definition of the term

A mass examination of a practically healthy population, aimed at identifying people suffering from any diseases, preferably at an early stage. Diagnostic methods that are used for screening should be fast, convenient, cheap, have sufficient sensitivity to detect early stages, when the person himself does not 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 diseases at the stage of 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

There is always a risk that an unborn child may be born with any chromosomal pathology or congenital disease. 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 the collection of amniotic fluid, which contains 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 of 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 fetal development 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. The expectant mother should understand the need for the prescribed procedures and not rush to do an ultrasound of the fetus 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 a positive screening result is obtained 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 1 screening include measuring the thickness (size) of the collar space (NTP) in a 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 motor activity, whether all organs and limbs are correctly laid. 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 nose of the child 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, the level of hCG gradually rises until 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 on the 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, premature birth, 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 facility. 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 this case, probably, all the necessary studies will be carried out for her in the hospital in which she is located.

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 the requirements of the World Health Organization, screening of 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 sampling of capillary blood from newborns in the 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. the nurse takes 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. With 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, 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. Its large amount 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 contain iodine, they are necessary for the proper growth and mental development of the 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 does not occur correctly. 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 prescribed, 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, delayed mental and motor development, and 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.

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Screening (medicine)

The purpose of screening is to detect diseases as early as possible, which allows for early initiation of treatment in order to alleviate the condition of patients and reduce mortality. Although screening promotes early diagnosis, not all screening methods show a clear benefit. Among the undesirable effects of screening are the possibility of overdiagnosis or misdiagnosis, and the creation of a false sense of confidence in the absence of the disease. For these reasons, screening studies must have sufficient sensitivity and an acceptable level of specificity.

There are mass (universal) screening, which involves all persons from a certain category (for example, all children of the same age) and selective screening, used in risk groups (for example, screening of family members in case of a hereditary disease).

In the USSR and in the states of the post-Soviet space, the term is also used to refer to screening. clinical examination. From 2013, medical examination of the entire population of the Russian Federation will be included in the system of compulsory medical insurance.

Examples of screening methods

Various screening studies are used for the possible early diagnosis of malignant neoplasms. Among the fairly reliable oncological screening tests:

• Papanicolaou test - to detect potentially precancerous changes and prevent cervical cancer;
• Mammography - to detect cases of breast cancer;
• Colonoscopy - to rule out colorectal cancer;
• Dermatological examination to rule out melanoma.

Screening medical equipment

Screening medical equipment often differs from equipment used in clinical diagnostics. The purpose of screening is only the detection / exclusion of diseases in clinically asymptomatic individuals, in contrast to the examination of known patients, aimed at assessing the nature and severity of the pathological process. As a result, screening equipment may be less accurate than diagnostic equipment.

Advantages and disadvantages of screening

Screening has both advantages and disadvantages; the decision to screen is made by weighing these factors.

Advantages

Screening allows you to identify diseases in their early, asymptomatic stages, at which treatment is more effective.

disadvantages

Like any other medical research, screening methods are not perfect. Screening results can be either false-positive, indicating the presence of no disease in reality, or false-negative, not detecting an existing disease.

• Screening is costly in medical resources, given that the majority of individuals screened are healthy;
• Presence of unwanted screening effects (anxiety, discomfort, exposure to ionizing radiation or chemical agents);
• Stress and anxiety caused by a false-positive screening result;
• Unnecessary additional testing and treatment of individuals with a false positive result;
• Psychological discomfort due to earlier knowledge of one's own disease, especially if there is no cure;
• A false sense of security caused by a false negative result, which can delay diagnosis.

Screening principles

The feasibility of introducing screening of the population is associated with a number of issues outlined above. Although some screening tests are not beneficial, in general, mass screenings provide an improvement in the health of the population. The World Health Organization in 1968 developed a guide to the principles of screening, which is still relevant today. Basic provisions:

1. The disease must represent an important medical problem
2. There must be a cure for the disease
3. Opportunities for diagnosis and treatment of the disease should be available
4. The disease must have a latent period
5. There must be a research method for the disease
6. The research method must be acceptable for use in the population
7. It is necessary to adequately understand the natural course of the disease
8. There should be an agreed policy on the need for treatment
9. The economic costs of case detection must be balanced against the total costs
10. Screening should be continuous, not “once and for all”

Notes

Links

• The Great and Terrible Screening, or How Prenatal Triage Works Article in YOUR Gynecologist #8/2010

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screening- - checking the creditworthiness of potential partners, their decency. The easiest way to check is to study well-known directories, which reflect the history and current position of the company, its financial condition, the presence of progressive ideas in production, and management organization. Such information can also be obtained from consulting firms that use audit data. Objective partner audit data is usually a reliable source of information.

Screening

Checking the creditworthiness of potential partners, their decency. The easiest way to check is to study well-known directories, which reflect the history and current position of the company, its financial condition, the presence of progressive ideas in production, and management organization. Such information can also be obtained from consulting firms that use audit data. Objective partner audit data is usually a reliable source of information.

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