The concept of newborn screening, the reasons for taking a blood test from the heel, the procedure for conducting a neonatal examination. Screening of newborns in the maternity hospital: what is it? Blood from the heel

The Heel test, or neonatal screening, can detect a number of serious genetic diseases in a newborn. How, when is it carried out, and at whose expense?...

What is the “Heel” analysis?

During pregnancy, including for genetic diseases (we wrote about this in detail in one of the previous articles). These tests make it possible, even at the stage of intrauterine development, to determine the baby’s likelihood of developing certain diseases that are inherited.

But as soon as the child is born, his “own” tests await him. And one of the first is a blood test, commonly known as “Heel”. Blood is taken from the newborn's heel, hence the name. Officially, this test is called neonatal screening, or newborn screening.

Why is blood taken from the heel? It's simple: the baby's hand is so tiny that it is almost impossible to take a blood test from it.

For the first time in the world, people started talking about the vital need for genetic tests for newborns in the 60s of the 20th century in the USA. Then doctors came to the conclusion that some diseases transmitted by inheritance can be successfully dealt with only if treatment is started from the first days of the baby’s life. In our country, the concept of neonatal screening appeared in the 80s of the last century.

The selection of diseases, the presence of which is determined during the “Heel” analysis, depends on statistics: if a significant amount of disease N is detected in newborns over a long period and the success of treatment depends on the speed of taking measures (read: the age of the small patient), it means this disease will be included in the “Heel” analysis list.

That is, while there are methods that give a great chance of recovery, if treatment is started during the newborn period, such a disease is included in neonatal screening.

For example, unfortunately, Down syndrome has not yet been learned to be treated in the first days of a child’s life to ensure its full development, so this disease is not necessarily diagnosed in newborns.

Today, neonatal screening is carried out in many countries around the world, and the list of diseases that this examination is designed to detect varies. This is due to the prevalence of diseases in a particular region of the world.

The “Heel” analysis, also known as neonatal screening, is mandatory for all newborns and at the expense of the state. All rules regarding this procedure, up to the time of blood sampling, are prescribed in the order of the Ministry of Health and Social Development of the Russian Federation dated March 22, 2006 N 185 “On mass examination of newborn children for hereditary diseases” and in the annexes to it. This information may be useful in cases of disputes in the maternity hospital or in any other medical institution.

Detection of diseases using the “Heel” analysis

Now in Russia, the mandatory “Pyatochka” analysis, carried out under the state program, is aimed at identifying 5 diseases: phenylketonuria, cystic fibrosis, galactosemia, adrenogenital syndrome and congenital hypothyroidism.

Disease	What is
Phenylketonuria	There is no enzyme in the newborn's body that breaks down the amino acid. As a result, it accumulates, which leads to mental retardation. BUT! If treatment is started in the first three weeks of the baby’s life, which primarily consists of a special diet that improves metabolism, then phenolketonuria is completely reversible, without any consequences for the child.
Cystic fibrosis	This is a hereditary disease that manifests itself in severe respiratory disorders. The patient will have to take medications and undergo regular examinations throughout his life. Early diagnosis allows you to save your baby from critical conditions that can arise if there is no treatment.
Congenital hypothyroidism	The disease is associated with insufficient production of a number of thyroid hormones. Leads to problems with both physical (bones, joints, teeth form later, nerve tissue and brain develop more slowly) and mental development. With early diagnosis (in the first days of the baby’s life) and correctly prescribed and followed treatment, the disease can be suppressed.
Galactosemia	Occurs when the gene responsible for converting galactose (a substance found in milk) into glucose has undergone a mutation. Galactose accumulates in the child’s body, as a result of which the functioning of the central nervous system, liver and visual organs is disrupted. Can lead to blindness, chronic liver damage and mental retardation. Prompt treatment eliminates the disease.
Adrenogenital syndrome	It manifests itself in the form of abnormal development of the genital organs, disturbances in salt metabolism and cessation of the child’s growth. As in the case of the diseases above, timely treatment will ensure a full life for the baby.

Even if these diseases have not been identified in your family (including relatives of the second and further generations on both sides), the “Heel” analysis must still be carried out. A hidden gene that transmits the disease may come into effect in the baby.

How is the “Heel” analysis performed?

A blood sample is taken from the heel of a newborn on the 4th day of life in a full-term baby and on the 7th day in a premature baby.
The analysis must be carried out 3 hours after feeding.
Before taking a blood sample, the baby’s heel is washed, wiped with a sterile cloth moistened with 70-degree alcohol and blotted with a dry sterile cloth.
To carry out the analysis you need 2 (!) drops of blood.
The test material is applied to special filter paper test forms.
No more than 10 days are allotted for the study.

After drawing blood...

If the analysis shows a positive reaction to any of the diseases being studied, this information is transmitted to the parents. Next, a re-examination is carried out to confirm the diagnosis. And only after that treatment is prescribed. If the test was done and after 10 days (that’s how long it takes to carry out the test) doctors have not contacted you, it means the test results are negative.

Every baby in the first days of life, usually while still in the maternity hospital, is required to take a blood test from the heel. In the medical community, this study is called “newborn screening.” Why is it needed, what diseases can it warn about? And doesn’t the analysis of a newborn’s heel itself pose any risk to the baby’s health?

A blood test from the heel of a newborn is a simple test that can reveal the most complex hereditary diseases.

Why is newborn screening necessary?

There are a number of quite serious, usually hereditary, diseases, the presence of which cannot be determined before the baby is born, but which are extremely important to identify as soon as the baby is born. Because the chances of a child’s recovery increase sharply when therapy begins even before the first clinical symptoms appear. This is what newborn screening is for. An obligatory part of which is a blood test from the baby’s heel.

A blood test from a baby's heel is often called a "heel test." As a rule, this test is performed on the 4th day of life in full-term infants, and on the 7th day in those infants.

Don't be scared! Literally a couple of drops of blood taken from the baby’s heel are applied to a special filter blank - and this is where the whole procedure ends. The analysis is carried out by examining a dried blood spot - in medicine it is known as the tandem mass spectrometry method. A couple of minutes of relative inconvenience for a newborn baby, as well as a couple of drops of his blood for analysis, can once and for all reassure doctors and parents of the newborn as to what serious diseases the baby is certainly not at risk of. Namely…

What diseases can be detected through newborn screening?

In our country, using a blood test from the heel of a newborn, research is carried out for the presence of at least five severe hereditary diseases. Despite the fact that all these “diseases” are of a hereditary nature, each of these diseases can manifest itself in any generation - that is, an affected baby can have an absolutely healthy family, and only one of the distant ancestors or distant relatives can be a carrier the same disease. That is why in the maternity hospital the test is done to all babies without exception, regardless of whether cases of severe hereditary diseases are known in the family of a particular baby or not.

Five diseases that are detected in all Russian maternity hospitals using a blood test from the heel of a newborn (in other words, by screening a newborn):

1 Phenylketonuria. In Russia, this disease occurs in approximately one in 10 thousand children. The essence of the disease is as follows: the child lacks the enzyme that breaks down the amino acid phenylalanine, which is part of most protein products. Without being broken down, this amino acid and its derivatives accumulate in the body and at a certain point become extremely toxic - they affect the nervous system and, first of all, the baby’s brain. If phenylketonuria is not treated (especially in the early stages), then in 100% of cases it leads to mental retardation of the child. With adequate and early treatment (taking special medications and a strict diet), the baby will develop absolutely normally, without delays, but will remain a carrier of the disease for life.
2 Congenital hypothyroidism. The disease is characterized by insufficient production of certain hormones. Without proper treatment, the baby experiences delays in physical and mental development - for example, bones and joints form later, the first teeth are cut later, and nerve tissue and the brain slowly develop. As a result, the child develops with serious physical and intellectual defects. If the disease is diagnosed before the onset of clinical symptoms (that is, during the neonatal period), hormonal therapy is prescribed. Which makes it possible to completely stop the development of the disease. In Russia, congenital hypothyroidism occurs in one newborn out of 5 thousand.
3 Galactosemia. This hereditary disease is based on a serious metabolic disorder - the gene that is responsible for converting galactose (a substance found in milk) into glucose is mutated. Galactose does not undergo fermentation, but accumulates in the body, causing a strong toxic effect on the central nervous system. In addition, the baby’s liver and vision are severely affected. If the disease is ignored, the child faces blindness, chronic liver damage and mental retardation. In theory, galactosemia is fatal. But with timely treatment with a special diet that completely excludes milk and dairy products from the baby’s diet, the child has every chance to fully grow and develop. Galactosemia occurs in approximately one newborn out of 20 thousand babies.
4 Adrenogenital syndrome. A severe disease is characterized by a disruption in the production of hormones by the adrenal cortex. The body produces an excess of sex hormones and glucocorticoids. Which causes a sharp disturbance in salt metabolism, impaired growth (often after 12 years of age, growth stops altogether) and improper development of the genital organs. Girls, as a rule, develop according to the male type. To avoid the development of the disease, children are prescribed hormonal therapy. In Russia, adrenogenital syndrome occurs in one newborn out of 5.5 thousand babies.
5 Cystic fibrosis (cystic fibrosis). This is a systemic hereditary disease, which is characterized by severe disorders in the respiratory and digestive organs. The cause of the disease is a gene mutation. In Russia, cystic fibrosis occurs in one baby per 10 thousand newborns. Therapy, which is prescribed during early diagnosis, can dramatically reduce the manifestations of the disease.

What happens after the test?

In recent years, in some regions of the country, the list of diseases for which analysis is included in the mandatory newborn screening program has expanded significantly. This list is formed based on the recommendations of the World Health Organization (WHO).

The procedure itself is considered absolutely safe for the baby, and the results it produces are very useful - identifying hereditary diseases at such an early stage allows you to choose an adequate treatment strategy and avoid disability in sick children in the future.

A blood test from the heel of a newborn, taken in the maternity hospital, is sent to the laboratory. And from there, the results, after a maximum of 10 days, are sent to the general database and directly to the clinic where the baby is further observed.

Most often, the results of newborn screening turn out to be negative - this fact is entered into the child’s medical record, and that’s the end of it. As a rule, if the answer to a newborn’s heel test is negative, no one discusses this with the parents. If the test shows a positive result for any of the diseases, doctors immediately contact the parents or guardians of the baby. However, this is not a verdict yet! Parents are informed that only a suspicion of a hereditary disease has been identified in the child and a date for retesting is set. It is very important to retest as soon as possible.

And only if a repeat test at the medical genetic center gives a positive result, the baby is prescribed appropriate therapy.

All diseases whose presence can be detected by neonatal screening are severe and lead to profound disability in the future. However, with early diagnosis - even at the newborn stage of the child (the first 28 days of the baby's life) - these ailments can either be cured completely, or their development can be strictly suspended at the stage when the disease has not yet acquired irreversible forms.

This is why it is not only possible, but also necessary, for tiny babies to undergo a blood test from the heel a few days after birth. This is usually done in the maternity hospital. But if you are planning a home birth, or are going to leave the maternity hospital a day or two after giving birth, be sure to check with your doctor where and how you can screen your newborn.

A genetic blood test in newborns is a specific diagnosis of the presence of signs of the possible development of severe hereditary diseases in the DNA of the person being tested. Genetic diseases can be transmitted through the most distant family branches, and neither parents nor immediate family may know anything about them. That's why withFrom the moment the baby is born, a blood test is taken for children, which makes it possible to determine whether the child has developmental abnormalities or is absolutely healthy.

If a genetic blood test is not carried out in the maternity hospital, then detection of the disease at a later stage of the baby’s life (even after several months) can result in severe disability, mental retardation and even death for the child.

Until recently, newborn screening was carried out only to identify disorders leading to mental retardation. Today, a range of tests for the presence of hereditary diseases helps determine the increased risk of infectious diseases, heart abnormalities, and hearing loss. In some countries, the number of identified hereditary anomalies reaches 30.

Studies have shown that early diagnosis allows the child to fully recover and continue to live fully.

Types of genetic research

A genetic blood test for a newborn is a test that is a comprehensive study of the body, involving the study of the child’s genotype. Having deciphered the results, the doctor determines the presence of changes in the genetic background and a violation of the molecular structure of proteins, which acts as a kind of code in the body.

Chromosomal testing helps provide information about serious defects in the DNA structure and about all chromosomes, find out whether they have additional elements and whether their number is normal.

Genetic blood test of a newborn - what does it determine?

Blood screening in newborns allows for the timely detection of 5 hereditary genetic diseases that are not detected in utero during pregnancy:

All of the diseases listed above are quite common, and their development can quite significantly reduce the quality of life of a child and complicate the life of parents. Heel screening allows you to timely identify any of these ailments and take control of it.

Immediately after birth, the baby may not have clinical symptoms of a genetic disease. However, with age, clinical symptoms can increase and lead to a critical situation, serious illness and even death.

For early detection, timely treatment, prevention of disability and the development of severe clinical consequences, as well as reducing childhood mortality from hereditary diseases, neonatal screening is carried out.

Neonatal screening- this is a mass examination of newborn children for hereditary diseases (adrenogenital syndrome, galactosemia, congenital hypothyroidism, cystic fibrosis, phenylketonuria).

When is newborn screening performed?

Neonatal screening is carried out for:

4th day of life in a full-term baby;
7th day of life in a premature baby.

Where is newborn screening performed?

Blood sampling is carried out in the maternity hospital. In this case, in the extract, the neonatologist marks “Neonatal screening taken.”

If for some reason screening was not carried out, then it is carried out in a clinic at the place of residence.

How is newborn screening performed?

A blood sample is taken from the newborn baby's heel 3 hours after feeding.

Blood samples are collected using special filter paper test forms from the heel of a newborn.

Before collecting a blood sample, the newborn baby’s heel must be washed, wiped with a sterile cloth moistened with 70-degree alcohol, then blotted with a dry sterile cloth. The heel of a newborn baby is punctured with a disposable scarifier; the first drop of blood is removed with a sterile dry swab.

To accumulate a second drop of blood, apply gentle pressure on the heel of the newborn baby. The test form is applied perpendicularly and soaked with blood completely and thoroughly in accordance with the circle dimensions indicated on the test form. The appearance of blood stains should be the same on both sides of the test form.

Blood samples are examined at the Medical Genetics Department (Moscow Neonatal Screening Center).

Since 2006, in Russia, by order of the Ministry of Health and Social Development of Russia dated March 22, 2006 No. 185 “On mass screening of newborn children for hereditary diseases,” neonatal screening has been carried out for five hereditary diseases:

Congenital hypothyroidism.

Phenylketonuria.
Cystic fibrosis.
Galactosemia.
Andrenogenital syndrome.

Congenital hypothyroidism- a disease in which the thyroid gland is insufficient, so the child’s physical and mental condition does not develop. Timely hormonal treatment will prevent the disease and lead to the full development and recovery of the baby. The dose of the hormone is selected individually.

Phenylketonuri?i- a rare hereditary disease of the group of fermentopathies associated with impaired metabolism of amino acids, mainly phenylalanine. The disease is associated with severe mental and neurological impairment. If a disease is detected, the doctor prescribes a long-term diet for the restoration and normal development of the young body. The diet is selected individually.

Cystic fibrosis(also known as cystic fibrosis) is a common genetic disease that is only inherited. Its specific feature is the formation of viscous mucus throughout the body, as a result of which the functioning of organs covered with mucous membrane is primarily disrupted: the digestive system, lungs and other vital organs. Most often, the disease manifests itself in infancy and requires coordinated interaction between the family and specialist doctors in order to provide the child with timely and therefore effective treatment.

Galactosemia- a cause that occurs when feeding milk or dairy products, and internal organs (nervous system, liver) are affected. Following your doctor's instructions, treatment and a dairy-free diet will help you avoid consequences.

Adrenogenital syndrome- increased production of androgen hormones by the adrenal glands. If left untreated, the reproductive system quickly develops in children, and overall growth stops; in the future, the person will be infertile. The use of the necessary hormonal drugs restores development and relieves signs of the disease.

In 2015, by order of the Moscow Department of Health dated March 12, 2015 No. 183 “On improving the activities of medical organizations of the Moscow state health care system to conduct mass screening of newborn children for hereditary diseases (neonatal screening),” the Medical Genetics Department (Moscow Center for Neonatal Screening) was created. .

The medical genetics department (Moscow Center for Neonatal Screening) is located on the basis of the Morozov Children's City Clinical Hospital

The department carries out:

carrying out examination of blood samples;
repeated blood sampling for confirmatory diagnostics;
hospitalization of newborn children with suspected adrenogenital syndrome, galactosemia, congenital hypothyroidism, phenylketonuria, cystic fibrosis (before or after receiving screening results) in a specialized department;
dynamic (dispensary observation) on an outpatient basis;
consultations with specialist doctors;
prescribing medications and specialized medical nutrition products.

How to get an appointment at the Medical Genetics Department (Moscow Neonatal Screening Center)?

The center is located on the basis of the State Budgetary Healthcare Institution "Morozovskaya Children's City Clinical Hospital of the Moscow City Health Department" at the address: Moscow, st. Mytnaya, 24.
Appointments can be made by calling the reception desk:
8-495-695-01-71
8-495-959-87-74
To obtain a medical card for a patient receiving medical care on an outpatient basis (form 025/y), the patient must submit:

referral from a medical organization (form 057/у-04);
an extract from the medical record of an outpatient or inpatient patient (form 027/u);
compulsory health insurance policy (hereinafter referred to as the compulsory medical insurance policy);
birth certificate or passport of a citizen of the Russian Federation;
insurance number of an individual personal account (hereinafter referred to as SNILS).

For patients registered with a dispensary: a referral from a medical organization (form 057/u-04) and an extract from the medical record of an outpatient or inpatient patient (form 027/u) are provided once a year.