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The heel prick test, also known as neonatal screening, is a mandatory test performed on all newborns, usually from the 3rd day of life onwards, and which helps to diagnose some genetic and metabolic diseases, and, therefore, if If any changes are identified, treatment can be started right away, avoiding complications and promoting the child's quality of life.
The heel prick promotes the diagnosis of several diseases, however the main ones are congenital hypothyroidism, phenylketonuria, sickle cell anemia and cystic fibrosis, since they can bring complications to the baby in the first year of life if they are not identified and treated.
How it is done and when to do the heel prick
The heel prick test is done by collecting small drops of blood from the baby's heel, which are placed on a filter paper and sent to the laboratory for analysis and the presence of changes.
This test is done at the maternity ward or at the hospital where the baby was born, and is indicated from the baby's 3rd day of life, however it can be performed until the first month of the baby's life.
In the case of positive results, the baby's family is contacted so that new, more specific tests can be carried out and, thus, the diagnosis can be confirmed and appropriate treatment initiated.
Diseases identified by the heel prick test
The heel prick test is useful to identify several diseases, the main ones being:
1. Phenylketonuria
Phenylketonuria is a rare genetic alteration characterized by the accumulation of phenylalanine in the blood, since the enzyme responsible for degrading phenylalanine has its function altered. Thus, the accumulation of phenylalanine, which can be found naturally in eggs and meat, for example, can become toxic to the child, which can compromise neuronal development. See more about phenylketonuria.
How the treatment is done: The treatment of phenylketonuria consists in the control and reduction of the amount of this enzyme in the blood and, for this, it is important that the child avoid the consumption of foods rich in phenylalanine, such as meat, eggs and oilseeds. As the diet can be very restrictive, it is important that the child is accompanied by a nutritionist to prevent nutritional deficiencies.
2. Congenital hypothyroidism
Congenital hypothyroidism is a situation in which the baby's thyroid cannot produce normal and sufficient amounts of hormones, which can interfere with the baby's development, as well as cause mental retardation, for example. Learn to identify the symptoms of congenital hypothyroidism.
How the treatment is done: The treatment for congenital hypothyroidism begins as soon as the diagnosis is made and consists of the use of medicines to replace the thyroid hormones that are in altered amounts, so that it is possible to guarantee the child's healthy growth and development.
3. Sickle cell anemia
Sickle cell anemia is a genetic problem characterized by changes in the shape of red blood cells, reducing the ability to transport oxygen to various parts of the body, which can cause delays in the development of some organs.
How the treatment is done: Depending on the severity of the disease, the baby may need to have blood transfusions in order for the transport of oxygen to the organs to happen correctly. However, treatment is only necessary when infections such as pneumonia or tonsillitis arise.
4. Congenital adrenal hyperplasia
Congenital adrenal hyperplasia is a disease that causes the child to have a hormonal deficiency in some hormones and an exaggeration in the production of others, which can cause overgrowth, precocious puberty or other physical problems.
How the treatment is done: In these cases, it is important that the altered hormones are identified so that the hormone replacement is made, and in most cases it is necessary to be carried out throughout life.
5. Cystic fibrosis
Cystic fibrosis is a problem in which a large amount of mucus is produced, compromising the respiratory system and also affecting the pancreas, so it is important that the disease is identified in the foot test so that treatment can be started and can be started. complications are prevented. Learn how to identify cystic fibrosis.
How the treatment is done: The treatment of cystic fibrosis involves the use of anti-inflammatory drugs, adequate nutrition and respiratory therapy to relieve the symptoms of the disease, especially the difficulty in breathing.
6. Biotinidase deficiency
Biotinidase deficiency is a congenital problem that causes the body's inability to recycle biotin, which is a very important vitamin to ensure the health of the nervous system. Thus, babies with this problem may have seizures, lack of motor coordination, developmental delay and hair loss.
How the treatment is done: In these cases, the doctor indicates the intake of the vitamin biotin for life to compensate for the body's inability to use this vitamin.
Extended foot test
The enlarged heel test is done with the aim of identifying other diseases that are not so frequent, but that can happen mainly if the woman has had any changes or infections during pregnancy. Thus, the extended foot test can help to identify:
- Galactosemia: a disease that causes the child to not be able to digest the sugar present in milk, which can lead to a central nervous system involvement;
- Congenital toxoplasmosis: a disease that can be fatal or lead to blindness, jaundice that is yellowish skin, convulsions or mental retardation;
- Glucose-6-phosphate dehydrogenase deficiency: facilitates the appearance of anemia, which can vary in intensity;
- Congenital syphilis: a serious disease that can lead to central nervous system involvement;
- AIDS: disease that leads to a serious impairment of the immune system, which still has no cure;
- Congenital rubella: causes congenital deformations such as cataracts, deafness, mental retardation and even cardiac malformations;
- Congenital herpes: a rare disease that can cause localized lesions on the skin, mucous membranes and eyes, or disseminated, seriously affecting the central nervous system;
- Congenital cytomegalovirus disease: it can generate brain calcifications and mental and motor retardation;
- Congenital chagas disease: an infectious disease that can cause mental, psychomotor retardation and eye changes.
If the heel prick detects any of these diseases, the laboratory contacts the baby's family over the phone and the baby must undergo further tests to confirm the disease or is referred to a specialized medical consultation. Know other tests that the baby should do after birth.