Expanded Heel Prick Test – What Diseases Does It Detect

last updated on: 03.06.2025 | Medical review by:

Mayara Belli

Nutritionist

As soon as a baby is born, a simple blood test can make all the difference to their health. The well-known heel prick test, which detects many genetic and congenital diseases, now has a new version: the expanded heel prick test. The heel prick test is very simple: it involves collecting drops of blood with a minimal prick to the baby’s heel. It does not hurt and is harmless to the baby; in fact, it is helpful and is very effective for diagnosing diseases. In addition to being mandatory nationwide, it is very efficient and precise in diagnosis, and should be performed between 48 hours and 7 days after the baby’s birth. In some laboratories, the heel prick test can be even more extensive, but it is necessary to consult a location near your residence.

The expanded heel prick test can detect up to 7 more possible congenital diseases. In addition to the basic screening for diseases such as phenylketonuria and congenital hypothyroidism, the expanded heel prick test can also detect the following in newborns:

Sickle cell anemia
Cystic fibrosis
Congenital adrenal hyperplasia
Galactosemia
Glucose-6-phosphate dehydrogenase deficiency (G6PD)
Congenital toxoplasmosis
Biotinidase deficiency

Most of these diseases are treatable and can even be completely cured, except for sickle cell anemia, in which case, if the disease is detected, the child will have to take some dietary precautions. Learn more about the diseases the expanded heel prick test can detect below.

Sickle Cell Anemia is a type of change in the red blood cells, which instead of being round can have a sickle shape. This shape makes it difficult for blood to circulate through the veins and can cause pain. Sickle cell anemia is usually inherited from one or both parents who have the gene for the disease. There is no cure, only treatment with dietary management and, during crises, medication for pain. However, the child may only carry the trait and not actually show symptoms of the disease.

Cystic Fibrosis is a deficiency in the amount of sodium in the cell membranes. This deficiency can cause the presence of mucus, which can end up blocking the airways and may also cause lung infection. This disease can also affect the pancreas due to the excessive potassium load in the bloodstream. The earlier the diagnosis and treatment, the better the recovery.

Congenital Adrenal Hyperplasia is a disorder of the adrenal glands, and the production of natural hormones like corticosteroids and cortisone is impaired. Deficiency of hormones such as cortisone, for example, can lead to increased potassium levels in the body and have serious consequences. The importance of early diagnosis is the benefit of starting treatment for the hormonal deficiency as soon as possible.

Galactosemia is a deficiency in the enzyme that metabolizes milk and foods in the baby. Galactose can cause vomiting, diarrhea, jaundice, liver problems, and issues with other organs. Galactosemia should be diagnosed within the first month to avoid major problems, which is why it is part of the expanded heel prick test.

Glucose-6-phosphate dehydrogenase deficiency is an instability of red blood cells, and with this instability, the occurrence of anemia is more likely even with minimal use of simple medications.

Congenital toxoplasmosis is simply toxoplasmosis (a disease transmitted by cat feces) passed from mother to baby during pregnancy. If contracted early in pregnancy, toxoplasmosis can cause malformation of the fetus. Congenital toxoplasmosis was included in the expanded heel prick test because early treatment can prevent neurological problems in the baby.

If the mother has a history of diseases such as HIV, Syphilis, Chagas disease, or even cytomegalovirus, these tests can also be included in the expanded heel prick test.

But what if a disease is detected in the expanded heel prick test?

Usually, when a condition is found in the initial heel prick test, the pediatrician will certainly order a new test to confirm the presence of the disease. Generally, the results take between 15 and 30 days, and in most cases, the blood is collected at the maternity hospital within 48 hours of the baby’s birth. Some maternity hospitals refer the baby to take the

heel prick test at places such as APAE, or even in specialized laboratories. Not all places perform the expanded heel prick test; in some cases, only the most basic version is done.

The possibility of having an expanded heel prick test done should be discussed with the obstetrician before delivery and also with the pediatrician at the hospital. If needed, they will order it, or if the parents wish, it can be done privately; just ask for guidance on where to do it in your city. The cost of the expanded heel prick test is around 250.00, while the public network offers the more basic version at no cost to parents. This is the simplest way to know if the baby needs special treatment for any of these diseases. If necessary, talk to your pediatrician, who will advise on effective treatment.

Photo: Arjan Almekinders

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