Diseases detected by the heel prick test

The heel prick test, also known as neonatal screening or neonatal screening, is a free and mandatory test performed on all newborn babies, from the 3rd day of life on, which helps to diagnose some diseases, such as Phenylketonuria or congenital Hypothyroidism.

Generally, the heel prick test helps to diagnose early congenital diseases that can be treated from the first days after birth to improve the child's quality of life.

The diseases detected by the heel prick test vary according to the Brazilian state, however, phenylketonuria and congenital hypothyroidism are always investigated.

Diseases detected by the heel prick test

Diseases detected by the heel prick test include:

1. Phenylketonuria

Phenylketonuria is a congenital disease in which the baby's digestive system cannot digest phenylalanine, a protein present in foods such as eggs and meat, which, when not digested, can become poisonous to the body, causing neurological impairment in the child's development.

How the treatment is done: foods with phenylalanine should be eliminated from the child's diet. See which: Diet for phenylketonuria.

2. Congenital hypothyroidism

Congenital hypothyroidism is a disease in which the baby's thyroid cannot produce normal amounts of hormones, which can impair the baby's growth, as well as cause mental retardation, for example. Learn more about this problem at: Congenital hypothyroidism.

How the treatment is done: the baby must take hormonal medications to help complete the missing thyroid hormone levels, ensuring healthy growth and development.

3. Sickle cell anemia

Sickle cell anemia is a genetic problem that causes 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. However, treatment is only necessary when infections such as pneumonia or tonsillitis arise. Learn more about this problem at: Sickle cell anemia.

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: the baby must undergo hormone replacement throughout his life to compensate for the lack of hormones and stabilize the amount of excess hormones.

5. Cystic fibrosis

Cystic fibrosis is a problem that leads to the production of a large amount of mucus, compromising the respiratory system and also affecting the pancreas. Learn about other complications and how to treat them at: How to know if your baby has cystic fibrosis.

How the treatment is done: it must be done with anti-inflammatory drugs, dietary care and respiratory physiotherapy 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: intake of the vitamin biotin for life to compensate for the body's inability to use this vitamin.

Diseases detected by the enlarged heel test

In addition to the aforementioned diseases, the enlarged or expanded foot test can detect other diseases such as:

• Galactosemia: a disease that causes the child to be unable to digest the sugar present in milk, which can lead to an impairment of the central nervous system; 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 anemias, which can vary in intensity; Congenital syphilis: a serious illness that can lead to central nervous system involvement; AIDS: a 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 and eye disorders.

The diseases detected by the heel prick test and the heel prick test are part of this list, however they can have these names depending on the laboratory and the number of diseases that you want to detect.

Generally, the enlarged heel test is only performed if the baby is suspected of contamination, if the mother or father has any of these diseases.

If the foot test 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.

See other tests that the baby should do right after birth.