home Audience 5 Neonatal screening of newborns - genetic heel blood test. Newborn heel test: two drops of blood that can change your whole life Why is newborn heel screening done?

Neonatal screening of newborns - genetic heel blood test. Newborn heel test: two drops of blood that can change your whole life Why is newborn heel screening done?

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Diagnostic method genetic diseases, which is used in maternity hospitals to detect hereditary pathologies, called newborn screening. Taking tests is aimed at the early detection of serious diseases and conditions, which helps to begin their timely adequate treatment and avoid severe negative complications, prevent disability.

What tests are taken from newborns in the maternity hospital?

Screening is carried out in the first month of a newborn's life. The tests are aimed at identifying severe genetic pathologies, studying the condition internal organs and systems. The range of procedures performed includes:

audiological analysis (hearing test);
ultrasound examination of internal organs and systems;
visual examination of the newborn by a surgeon, orthopedist, neurologist and ophthalmologist;
neonatal screening (blood test).

What is newborn screening

Neonatal screening in newborns is carried out to identify severe hereditary diseases that are initial stages occur without significant symptoms. Early detection of the problem helps to begin treatment in a timely manner and avoid serious complications. Initially, the analysis was aimed at identifying congenital abnormalities that could lead to mental retardation. Now the subject of the study is the five most common hereditary pathologies, helping to identify the symptoms of galactosemia in patients with cystic fibrosis.

Why is blood taken from the heel of a newborn?

A newborn examination called neonatal screening involves drawing blood from the baby's heel. This analysis is aimed at identifying the following serious diseases:

Congenital hypothyroidism (impaired hormone production thyroid gland).
Phenylketonuria (a genetic metabolic disorder leading to brain malfunctions and serious neuralgic disorders).
Cystic fibrosis (digestive and respiratory system disorders).
Adrenogenital syndrome(impaired production of androgenic hormones, leading to active sexual development, subsequently threatening infertility).
Galactosemia (milk protein intolerance caused by a deficiency of essential liver enzymes, causing jaundice).

Timing of newborn screening

Screening is carried out immediately after birth or during the first month of a newborn’s life. If the birth took place without complications, a set of procedures to identify genetic diseases is carried out on the fourth day of the baby’s life. Premature babies are examined on the seventh day of life. In cases where mother and child were discharged from the maternity hospital earlier specified deadlines, a mandatory examination aimed at early diagnosis of hereditary pathologies is carried out in a clinic or at home.

How is the examination carried out?

In most cases, during a neonatal examination in a maternity hospital, the mother in labor is not informed about the tests taken from the child. At positive result the newborn is sent for repeated screening, after which, if the diagnosis is confirmed, the parents undergo consultation with a geneticist. It discusses preventive measures, which will prevent the development of pathology, and, if necessary, appropriate treatment is prescribed.

Neonatal screening

Genetic testing for newborns is carried out by examining the baby's blood taken from the baby's heel. The test is performed on an empty stomach, so the child is not fed three hours before screening. The procedure follows the following algorithm:

Using a micropuncture in the heel, a few drops of peripheral blood are taken from the newborn;
the resulting test material is applied to a special form with five sections;
an envelope with the results is sent to the genetic laboratory.

How is newborn audiological screening performed?

If hearing impairment is suspected, the child is sent for a special audiological examination during the first month of life. Not all maternity hospitals and hospitals are equipped with the equipment necessary to carry it out, so such an analysis is usually prescribed during the first year of life, when it is detected serious problems with speech or psychological development.

The analysis is carried out using a special electroacoustic probe with a supersensitive microphone connected to it, which is inserted into ear canal child. Reaction to sounds is tested different frequencies, emitted by the device. Early detection of hearing loss helps prevent total loss hearing or related impairments in psychological development baby.

Ultrasound screening of newborns at 1 month

The examination is carried out in the presence of visual indications using neurosonography (ultrasound of the brain), examination of the hip joints, and cardiac screening. Neurosonography diagnoses congenital and perinatal pathologies central nervous system newborn The results of the procedure are used to develop adequate rehabilitation and treatment measures that help to avoid developmental delays in the child.

Ultrasound of the pelvic area is aimed at identifying dysplasia hip joint and other musculoskeletal disorders. Early diagnosis and timely prevention in the first months of life allows you to do without surgical operations, When we're talking about about disorders of joint formation. Cardiac screening identifies problems with the heart and cardiovascular system.

Is it possible to refuse tests?

Screening of a newborn in the maternity hospital is considered a mandatory procedure, but parents can refuse the examination if they wish. The waiver is an official document and must be signed by both parents and entered into the medical card baby. If the analysis is carried out correctly (blood is taken on an empty stomach), its accuracy is usually high. If there is any doubt about the correctness of the results, the screening analysis can be repeated. Pathologies identified as a result of the test are not always hereditary; sometimes sick children are born to healthy parents.

Video

Since at the birth of a child, signs of phenylketonuria and hypothyroidism are not always expressed in developed countries, including Russia. With the aim of early detection For these diseases, all newborns without exception undergo a blood test (such a mandatory test for everyone is called screening). Early detected hypothyroidism and phenylketonuria are easier to treat than other congenital diseases.

To identify and prevent hypothyroidism, thyroid-stimulating hormone (TSH) is determined in the blood of newborns, the amount of which increases sharply when congenital hypothyroidism, as well as phenylalanine, which in phenylketonuria is found in the blood in large quantities. On the 3-5th day of life in a full-term baby and on the 7-14th day of life in a premature baby, several drops of blood are taken from the heel and applied to a special filter paper - a form, which is subsequently sent to the regional screening laboratory. The child has undergone a screening test, the doctor will definitely note it in the newborn’s exchange card.

If the test results are negative, the information is not communicated either to the clinic or to the parents. If a positive result is detected, it is immediately reported by telephone to the clinic where the child is being observed. In this regard, it is important for parents to correctly and clearly indicate the address where the baby will live in the near future after discharge from the hospital. maternity hospital. Parents should know that if the baby was born outside the maternity hospital (in a regular hospital or at home), then a screening test for congenital diseases was not performed on him, so to have it done, they must go to the clinic at their place of residence or to a medical genetic consultation.

What are hypothyroidism and phenylketonuria?

In congenital hypothyroidism, there is insufficient function of the thyroid gland. As you know, thyroid hormones are absolutely necessary for the development of the central nervous system in the prenatal period and in the first years of a baby’s life. With a lack of these hormones, the process of brain maturation is disrupted, which causes mental retardation and the appearance of neurological disorders.

A disease such as phenylketonuria also leads to the development of profound mental retardation. This is a congenital, inherited metabolic disorder. Its cause is a lack of an enzyme (phenylalanine hydroxylase), necessary for the normal metabolism of amino acids that make up the body's proteins. In the absence of this enzyme, the amino acid phenylalanine is not converted into another amino acid, tyrosine. As a result, the concentration of phenylalanine in the blood increases sharply, which has a toxic effect on the central nervous system.

The disease manifests itself in a gradual disruption of the activity of the central nervous system, in particular the brain, which leads to a delay mental development. Since the screening test belongs to the category of indicative tests, having received information about positive results, the pediatrician at the clinic prescribes a more in-depth examination for a child with suspected hypothyroidism, namely: a consultation with an endocrinologist, additional research all thyroid hormones, ultrasonography thyroid gland, x-ray examination.

Early diagnosis of the disease is very important, since the beginning of treatment (prescription of drugs containing thyroid hormones) before 4-6 weeks of the baby’s life ensures further full physical and mental development in most children. In addition to timely appointment medicines It is very important that a baby with hypothyroidism is fed from the first days of life mother's milk, since it contains mother’s thyroid hormones in an amount capable of providing minimal daily requirement there is a child in them. If phenylketonuria is suspected, after discharge from the maternity hospital, special studies are also carried out, including more precise methods determining the amount of phenylalanine (an amino acid that is large quantities accumulates in the child’s body) and its derivatives not only in the blood, but also in the urine.

For a baby with phenylketonuria, it is considered optimal to make an early diagnosis and prescribe a special diet no later than the 21st day of life. Early administration of therapy (namely, the selection of a diet low in phenylalanine) can prevent mental retardation. In addition to diet treatment, molecular genetic therapy is currently being developed similar diseases. However, the main treatment that children with phenylketonuria receive today is diet. To feed such children, special milk formulas have been developed, in which milk protein replaced with low phenylalanine protein. If you follow a diet, excess acid does not accumulate in the body, which has a detrimental effect on the developing brain, which means that the baby grows healthy. Thus, phenylketonuria and congenital hypothyroidism can be considered one of the few congenital diseases that humanity can cope with.

For children at risk

If the health condition of the newborn raises concerns, he will be tested in the maternity hospital. necessary research, among which general analysis blood or urine biochemical research blood, determination of antibodies to infections and many others. If a baby was born from a mother with Rh-negative blood, then in the first minutes of life the doctor will definitely determine the child’s blood group and Rh factor, regardless of his state of health. If the baby's blood is Rh positive (the Rh factor is inherited from the father), then a small amount of blood will be taken from the umbilical cord for laboratory confirmation its affiliation and determination of the level of bilirubin - a substance that is released during the destruction of red blood cells in the event of Rh conflict. This must be done in order not to miss the beginning of development hemolytic disease newborn, which is characterized by increased destruction (hemolysis) of erythrocytes (red blood cells) of the fetus and newborn due to the incompatibility of its blood with the mother’s blood.

During pregnancy, fetal red blood cells, which have outer shell Rh factor antigen (Rh-positive), entering the body of the mother (who does not have this antigen), can cause the formation of antibodies in her - proteins that destroy these unfamiliar antigens. Under certain conditions (maternal illness, bad habits, pathological course of pregnancy, previous abortions, etc.) antibodies can penetrate the placenta and cause the death of red blood cells in the fetus, subsequently leading to the development of anemia and jaundice (a similar conflict can arise if the blood of the mother and fetus is incompatible with blood group antigens) .

From destroyed red blood cells, bilirubin enters the bloodstream, which is toxic to tissues and, in particular, to the baby’s nervous system. If the liver does not have time to neutralize free (indirect) bilirubin (i.e., bind it with glucuronic acid), it accumulates in the bloodstream and begins to penetrate the tissues, coloring the baby’s skin in yellow. This is especially dangerous for the baby’s brain cells, since free bilirubin can penetrate into nerve cells and cause disruption of their activity and even death, leading to the development of so-called bilirubin encephalopathy (brain damage).

To prevent the development of such complications, the newborn's blood bilirubin level will be determined and its increase will be monitored for several days. However, the appearance of jaundice in a newborn may be due to other reasons: previous hypoxia (lack of oxygen), birth injuries, viral or bacterial infections. If jaundice appears in a premature baby or in a child born with signs of intrauterine growth retardation (small for its gestational age), then a determination of bilirubin in the blood will be prescribed, even if the skin color is only slightly jaundiced. And all this is because the level of bilirubin in the blood of such newborns can be much higher than the intensity of skin coloring would suggest. Newborns at risk for the development of hemolytic disease in the maternity hospital must also be prescribed a general blood test, since increased breakdown of red blood cells is accompanied by a decrease in the level of hemoglobin and the number of red blood cells, and therefore the occurrence of anemia. A general blood test will necessarily be prescribed for newborns born ahead of schedule with signs of intrauterine growth retardation, as well as children of twins, triplets, i.e. born as a result of multiple pregnancy.

What will a general blood test tell you?

Blood is the most sensitive indicator of all changes occurring in the body. If the baby is unwell, a general blood test will help determine whether there is any inflammatory process in the body. At infectious diseases In the blood of a newborn baby, the level of leukocytes sharply increases, immature forms of cells appear in large numbers, and the erythrocyte sedimentation rate (ESR) also becomes high. Such changes in the blood can appear significantly before symptoms diseases, which is very important in the diagnosis and treatment of diseases in newborns. It should be noted that blood healthy newborn has some features. It has a significantly higher number of red blood cells, white blood cells, and hemoglobin level (180-240 g/l). At birth, the baby has two types of hemoglobin. The first is fetal - (80%), which has a greater ability to bind and transfer oxygen to organs and tissues, which is very important during intrauterine development. The second - adult - HLA (20%), necessary to obtain oxygen through the lungs; Almost all the baby’s red blood cells will contain it by the age of 4-5 months.

Why is blood taken from the heel?

Don't worry about having to take drops of blood from your baby's heel for analysis. It's just more convenient way, since the newborn’s fingers are still very small to carry out this procedure.

For sick kids

If the newborn is unwell, maternity hospital he may be prescribed a urine test, which will not only help assess the condition and function of organs genitourinary system, but will also allow us to judge the presence of certain disorders on the part of organs and systems (liver disease, metabolic disorders, etc.). However, this is not a common test in the maternity hospital, since collecting urine from a newborn may present some difficulties due to its physiological characteristics(transient oliguria - excretion of a very small amount of urine in the first 3 days of life). Therefore, in seriously ill newborns, urine collection for testing is often carried out using urinary catheter. So, we have seen that there are cases when only early diagnosis diseases helps to maintain the baby’s health in the future. If tests carried out in the maternity hospital reveal any problems, the newborn will be prescribed additional examination and, possibly, treatment in a specialized hospital.

How and when it is carried out

Newborn screening, or “heel test,” is widely carried out in Russia, Europe, and the USA. Usually the analysis is done in the maternity hospital on the 4th or 5th day of the baby’s life. Results come in an average of three weeks. Most often, during this examination, a disease called cystic fibrosis is discovered in children.

Newborn screening (from English screening - sorting) is one of the most effective methods diagnosis of genetic diseases of the neonatal period. The genetic research is being carried out at the initiative of the World Health Organization (WHO). In Russia, screening is included in the list of mandatory diagnostic measures over the past fifteen years. From a large list genetic diseases, it is recommended to diagnose five pathologies, taking into account the following factors: prevalence, severity of diseases, as well as the ability to obtain reliable test results and apply effective treatment.

Terms and conditions of screening

How is newborn screening performed?

📍For full-term babies, the test is done on the 4th day in the maternity hospital.
📍Premature babies are screened on the 7th day of life and later.📍If the child was discharged from the maternity hospital earlier, the baby is tested at home or in a clinic at his place of residence.
📍For screening, peripheral blood is taken (from the heel), hence the “heel test”.
📍The blood is applied to 5 separate forms (circles) of filtered paper.
📍The analysis is taken on an empty stomach; you cannot feed a newborn 3 hours before screening.

When to do screening? If you do the analysis earlier - on the 2nd or 3rd day of life - the results may turn out to be either false positive or false negative. It is advisable to take the test within the first 10 days of life. Detection of genetic metabolic disorders in early stages important for a favorable prognosis.

Diagnosis of gene level pathologies

What congenital diseases are diagnosed using screening in Russia? The list includes those diseases that can be cured or reduced in severity if detected early. These are pathologies associated with various metabolic disorders. This, for example, does not include the diagnosis of a chromosomal disease such as Down syndrome.

📍Hypothyroidism. This disease is associated with a disruption in the production of thyroid hormones. The consequences of this disease are severe: general physical and mental retardation development. On average, there is one case of hereditary hypothyroidism per 5 thousand newborns, and girls are more often affected. The chances of completely curing a disease identified after positive screening results are quite high; hypothyroidism can be overcome. Hormonal therapy is required. Read more about hypothyroidism TSH standards in children, read our other article.

📍Cystic fibrosis. With this disease, the production of secretions in the lungs is disrupted and digestive tract. The fluid secreted by the cells becomes thick, which leads to serious dysfunction of the lungs, liver, and pancreas. Cystic fibrosis is one of the most frequent illnesses, which is detected during screening, one case is registered in 2–3 thousand newborns. The prognosis is favorable if timely treatment begins.

📍Adrenogenital syndrome. It is rare, approximately one case per 15 thousand newborns. This includes a group of genetic diseases that are caused by impaired production of cortisol (in the adrenal cortex). What are the consequences of this disease? The development of the genital organs is delayed, the kidneys, heart, and blood vessels suffer. Likely fatal outcome, if not provided health care. Treatment consists of lifelong administration of hormonal drugs.

📍Galactosemia. The cause of this disease is a deficiency of the enzyme that breaks down galactase. This substance enters the body with glucose and is found in lactose. Symptoms of galactosemia appear gradually, and the newborn seems quite healthy child. But after a few weeks, vomiting, loss of appetite, swelling, protein in the urine, and jaundice may appear. Galactosemia is dangerous due to its consequences: serious impairment of liver function, decreased visual acuity, slow physical activity, intellectual development. This is the rarest disease that is diagnosed by screening, occurring once in 30 thousand newborns. Treatment for galactosemia involves a strict diet that excludes dairy products.

📍Phenylketonuria. A rare hereditary disease that occurs once in 15 thousand newborns. Phenylketonuria occurs as a result of a disruption in the production of an enzyme that should destroy the acid phenylalanine. Phenylalanine breakdown products negatively affect the entire body and accumulate in the blood. First of all, the central nervous system, the brain, is affected, and convulsions appear. To avoid complications of the disease, a strict diet is necessary that excludes the entry of phenylalanine into the body.

In medicine, there are about five hundred diseases associated with metabolic disorders. For example, in Germany, 14 genetic diseases are diagnosed using newborn screening, in the USA - over 40 diseases. In Russia, neonatal screening is carried out to diagnose the five most dangerous pathologies, which begin to develop in early age. At the request of the parents, if the baby is at risk, screening can be expanded to 16 diseases.

There is a lot of controversy surrounding the topic of newborn screening. Parents who have experienced stress after a false positive result in their baby are not advised to undergo the procedure. Other mothers and fathers whose babies were found to have serious diagnoses, are grateful to this diagnosis, because we managed to save the child from severe consequences, stop or cure the disease.

5 questions that concern parents

Screening causes anxiety for many mothers and fathers, and the period of waiting for the result is filled with anxiety and fear. Particularly anxious mothers may even experience problems with lactation. Maybe that’s why some maternity hospitals don’t notify mothers at all about the exact purposes for which the analysis is being taken.

📍When can you get results? The analysis is carried out within three weeks. If the results are negative (and they are in most cases), no one reports it. But the data is written to medical card baby. If there is a positive result, they will definitely call you back from the clinic and ask you to take the test again. Most often false positive tests there are for cystic fibrosis.
📍If repeated screening confirmed the previous analysis? Parents are invited to a conversation with a geneticist. He gives directions to narrow specialists, where additional examination is carried out: coprogram, DNA diagnostics, dry blood spot analysis, and if cystic fibrosis is suspected, a sweat test.
If after additional tests the diagnosis is confirmed, the question of treatment tactics for the baby is decided.
📍Is it possible to screen newborns at home? If for some reason screening was not carried out in the maternity hospital or discharge was on the 3rd day, the analysis is done in the clinic at the place of residence. Some mothers, commenting on the situation, share their experiences: some called a nurse to their home, some went to the clinic, and for others the nurse came home herself and took a blood sample for screening. If difficulties arise and the deadline for taking blood for screening is running out, you can do the analysis in a paid laboratory. You can also contact the higher health authorities, to which the district maternity hospital and clinic are subordinate, and ask how to act in the current situation.
📍How high is the reliability of screening? If the analysis is carried out on time, if the baby has not eaten 3 hours before blood sampling, the reliability of the tests is high. But the diagnosis is never established after the first positive result. There are rare cases when screening shows false negative results. In this case, the disease is detected late, when symptoms already appear.
📍Is it possible to refuse screening? Yes, you can. Parents take responsibility and sign a document in which they refuse to screen the newborn. This paper is glued into the baby's card. A nurse or doctor at a district clinic will call, come home, and leave notes asking for screening until the parents’ refusal is written.

It is important to know that pathological metabolic disorders can be not only hereditary diseases. Perfectly healthy parents can give birth to children with cystic fibrosis, hypothyroidism, galactosemia, phenylketonuria, and adrenogenital syndrome. It is also important to know that when the diagnosis is confirmed, one should not delay treatment and neglect the recommended diet for phenylketonuria or galactosemia.

Newborn screening in the maternity hospital is quick, free and painless for babies. Medical professionals recommend that parents consciously approach this diagnosis, which is carried out according to state program and WHO initiative. Unfortunately, late detection of genetic metabolic diseases leads to irreversible consequences, disability and mortality of children.

All newborn children, while in the maternity hospital, must undergo a screening procedure (also called the “heel test” or “newborn screening”). This term refers to a blood test from the baby’s heel. The importance of this simple test is perhaps the only opportunity to identify any complex diseases that are inherited in a child. Parents are often afraid when doctors perform various “unknown” manipulations on their children, especially if it concerns blood. Therefore we will consider general characteristics this analysis, to identify which diseases it has to be done, and whether it is dangerous for the newborn.

The procedure is not at all dangerous

How and why analysis is done

According to the rules, the analysis takes place on the fourth day for full-fledged newborns, and on the seventh for those born earlier due date. Many serious illnesses(usually hereditary) cannot be determined until the birth of the child. Therefore, such early medical manipulation is due to the extreme importance of identifying any abnormalities in health. The baby’s chances of being healthy are made higher by the fact that in case of illness, treatment can begin before the first symptoms begin to appear.

Do not be intimidated by the absolutely safe collection procedure: it will only require a few drops of the child’s blood, which, after wiping the leg with a napkin with alcohol and injecting it (to a depth of 1-2 mm), are applied to laboratory filter forms (there are five of them due to the number of diseases to be identified ) and sent for verification.
Blood is taken from the heel, because newborns' fingers are too undeveloped and small to carry out the sampling.
The study itself can be methodologically characterized as tandem mass spectrometry, that is, laboratory observation of a spot of dried blood.
Ten days later, the test results are sent to the hospital database.

Five identifiable diseases

It must be remembered that a blood test from a baby’s heel can quickly and accurately warn of the appearance of many health problems in the future. The list of diseases identified using such research is small, but impressive in its danger. It may not depend on the health status of the parents, since hereditary diseases often passed on over many generations. Regardless of whether doctors are aware of whether there are hereditary “diseases” in the family, the screening procedure is prescribed for all children, without excluding anyone. In general, there are five diseases that can be detected using this blood test.

Special form for disease identification

Phenylketonuria

This disease is characterized by the patient's lack of an enzyme that breaks down phenylalanine in the body. Phenylalanine is an amino acid commonly found in protein foods. When this amino acid is not broken down, it accumulates and turns into a toxin, which soon causes irreparable harm to both the child’s brain and the entire nervous system. If the disease is not identified and treated in early childhood, the baby may remain mentally underdeveloped for life. Data from mass studies show that phenylketonuria occurs in only one in ten thousand newborns.

Cystic fibrosis

The systemic nature of this serious illness leads to profound dysfunction endocrine system(glands), respiration, and digestion. As a result of the manifestation of the disease, it is accompanied by the development of bronchitis, pneumonia and, at the same time, cirrhosis of the liver. It's all about the reason - gene mutation. During illness, mucus in the body and secretion products appear much more viscous and thick than is usually required. Cystic fibrosis occurs with a probability of one patient in ten thousand babies.

Congenital hypothyroidism

With hypothyroidism, the child’s body produces extremely uneven hormones. The baby may experience some difficulties in physical and mental development. If immediate treatment is not started, the child will develop bones and bones late, the first teeth will erupt late, the brain will develop slowly and nerve tissue etc. As one can imagine, all this, in essence, leads to mental and physical retardation. Hypothyroidism occurs in one in five thousand children. Hormonal therapy prescribed by doctors will completely help overcome the disease.

Galasectomy

This is a rare hereditary disease associated with a mutation in a gene that is needed to break down galactose contained in milk. When galactose, which cannot be fermented, accumulates, it exhibits its toxicity, especially affecting the central nervous system, vision and liver of the baby. If the disease is ignored, the likelihood of developing mental retardation increases, chronic illness liver, blindness and even death. If treatment is prescribed in a timely manner, the child goes on a special diet that excludes all dairy products from the baby’s diet, after which there is every chance of normal development. Galasectomy occurs in one in twenty thousand newborns.

Adrenogenital syndrome

The disease with this syndrome threatens to disrupt the production of hormones from the adrenal cortex. As a result of the accumulation of sex hormones and glucocorticoids in excess, sharp violation salt exchange in the body and growth slows down (stops after twelve years). Among other things, the genitals develop incorrectly (the development of girls “like men”). After successful diagnosis, sick children are prescribed hormone therapy, which allows you to successfully avoid the development of the disease. Adrenogenital syndrome occurs in one child in five and a half thousand.

After analysis

Most often, negative results come after the screening procedure. Notice of this remains in the child’s medical book, which is where everything often ends happily, because good analysis does not require a separate review. If the test result is positive, the parents of the sick child are notified without any delay. Doctors first announce that the child has been diagnosed with a suspicion of a certain disease (of which, as we remember, there are five), after which they must prescribe repeated testing. It is important to complete the re-screening procedure without delay. Treatment is prescribed only after confirmation of the previous blood test result.

Be sure to check your baby

It is important to remember that without exception, all diseases that can be detected through screening are very serious and lead to a limitation of human natural abilities - disability. It is equally important to know that all these diseases can be detected in the early stages either full treatment, or successful arrest of their progression. There is no need to wait until a complex of defects has transformed your child’s body into an invariably poor state.

In conclusion, we can add that in anticipation of recent years The list of diseases that can be identified using this testing, and which are included in a special screening program without fail, has significantly expanded. The list of these diseases is formed on the basis of what the WHO - World Health Organization - recommends. With the increase in risk for all those who have just given birth, it is recommended that you submit your child for research without delay.

Although the diseases listed in this article can cause deep fear to parents, the truth is that no one can be even one percent sure that they are insured against them. Unfortunately, few children are born truly healthy. Therefore, it is best to put aside prejudices and fear of the procedure, because this simple heel blood test can literally save your child’s life. Do not allow yourself to allow the development of critical health conditions for him. After all, a full-fledged child is your happiness!

Newborn screening will help identify predisposition to genetic diseases. Even in the maternity hospital, blood is taken from the child to test it for at least 5 ailments.

Screening is very important, because many genetic abnormalities are not visible to the naked eye and can make themselves felt much later, even in adulthood. Laboratory research will show the presence of pathologies long before their first signs appear.

There is no doctor who will not advise expectant mothers to undergo neonatal screening of newborns. This study means a blood test. After all, many hereditary diseases impossible to recognize without a special detailed test.

Screening can reveal genetic defect at the embryonic stage, and prevent it from developing into serious illness. Simply put, a blood test, which is taken from all newborns, helps to recognize the disease at a preclinical stage.

The test is not complicated and does not require any effort on the part of the mother or the newborn. In addition, the examination, which boils down to taking blood from the heel, is completely safe and almost painless.

But screening newborns for hereditary diseases helps prevent mental and mental disorders. physical development, as well as blindness, defects of many internal organs and even death.

To whom, when and how

Today, all newborns are screened for five serious genetic diseases. If desired, parents can request that their child be examined for other abnormalities. But such tests are done separately.

Peripheral blood is taken from the heel of each full-term baby on the fifth day of life. Babies born prematurely are tested a week later. The procedure is carried out on an empty stomach, that is, at least 3 hours must pass after the last feeding.

The discomfort that babies experience during manipulation is minimal, since the skin is pierced to a depth of only a couple of millimeters. Then medical worker gently squeezes the heel and places it on a strip of special filtered paper. A total of 5 such forms are needed to make a similar number of tests - one for each genetic disease.

What ailments are determined by screening?

Parents should understand the importance of this examination and not resist it. Firstly, many do not know the history of their family’s illnesses and often do not suspect that their child is at risk of genetic pathology. Secondly, even if parents and their relatives do not have any chromosomal defects, this does not mean that the baby is out of risk. Many children burdened with this kind of disease are born into completely healthy families.

Neonatal screening of newborns (heel blood test) can detect the following ailments:

For the last two diseases, the child is prescribed hormones, which he must take for the rest of his life.

Other types of screening

Ultrasound screening of a baby can reveal congenital dislocations hip joints, as well as dysplasia. In addition, ultrasound is done to detect pathologies of the brain and some internal organs. Parents and their doctor must decide which organs to examine.

Extremely important. The examination helps to diagnose hearing loss or deafness in a timely manner. In many cities it is mandatory even for children who are not at risk.