The heel bite test, also known as neonatal screening, is a mandatory test for all newborns, usually from the 3rd day of life, which helps diagnose certain genetic and metabolic diseases and therefore, if changes are identified, treatment can be initiated. immediately afterwards, avoiding complications and promoting the child’s quality of life.
Heel bites favor the diagnosis of various diseases, but the main ones are congenital hypothyroidism, phenylketonuria, sickle cell anemia and cystic fibrosis, as they can lead to complications in the baby during the first year of life if not identified and treated.
- The heel bite test is performed by collecting small drops of blood from the baby’s heel.
- Which are placed on a filter paper and sent to the lab for analysis and change.
This test is done in the maternity or hospital where the baby was born, and is indicated from the 3rd day of the baby’s life, but can be done until the first month of the baby’s life.
In the event of a positive result, the baby’s family is contacted so that further more specific tests can be performed so that the diagnosis can be confirmed and appropriate treatment initiated.
The heel puncture test is useful for identifying several diseases, the main ones being:
Phenylketonuria is a rare genetic alteration characterized by the accumulation of phenylalanine in the blood, since the enzyme responsible for the degradation of phenylalanine has its altered function. Thus, the accumulation of phenylalanine, which is found naturally in eggs and meat, for example, can become toxic to the child, which can compromise neuronal development. Learn more about Phenylketonuria.
How treatment is performed: Treatment of phenylketonuria involves controlling and reducing the amount of this enzyme in the blood, and for this purpose it is important for the child to avoid eating foods rich in phenylalanine, such as meat, eggs and oilseeds. The diet can be very restrictive, it is important that the child is accompanied by a nutritionist to avoid nutritional deficiencies.
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 how to identify symptoms of congenital hypothyroidism.
How treatment is performed: Treatment of congenital hypothyroidism begins at the time of diagnosis and involves the use of medications to replace thyroid hormones in modified amounts to ensure a healthy growth and development of the child.
Sickle cell anemia is a genetic problem characterized by changes in the shape of red blood cells, which reduces the ability to carry oxygen to various parts of the body, which can lead to delays in the development of certain organs.
How treatment is performed: Depending on the severity of the disease, the baby may need blood transfusions to transport oxygen to the organs appropriately. However, treatment is only necessary when infections such as pneumonia or tonsillitis occur.
Congenital adrenal hyperplasia is a disease that causes a child to have hormonal deficiency in certain hormones and an exaggeration of the production of other hormones, which can lead to excessive proliferation, early puberty, or other physical problems.
How treatment is performed: In these cases, it is important that the hormones modified for hormone replacement to be performed are identified, being in most cases necessary to perform it throughout life.
Cystic fibrosis is a problem in which a large amount of mucus occurs, compromising the respiratory system and also affecting the pancreas, so it is important that the disease is identified in the foot test in order to start and start treatment. Complications are avoided. Learn how to identify cystic fibrosis.
How treatment is performed: Treatment of cystic fibrosis involves the use of anti-inflammatory drugs, adequate nutrition and respiratory therapy to relieve symptoms of the disease, especially shortness of breath.
Biotinidase deficiency is a congenital problem that results in the body’s inability to recycle biotin, which is a very important vitamin for nervous system health. Babies with this problem may have seizures, lack of motor coordination, delayed developmental and hair loss.
How treatment is performed: In these cases, your doctor indicates your vitamin biotin intake for life to compensate for your body’s inability to use this vitamin.
The extended heel test is done to identify other diseases that are not as common, but can occur primarily if the woman has had changes or infections during pregnancy. Therefore, the extended foot test can help identify:
If the heel puncture detects any of these diseases, the lab contacts the baby’s family by telephone and the baby must undergo further testing to confirm the disease or is referred to a specialized medical consultation. Learn about the other tests your baby should take after birth.