Heel test could detect up to 50 diseases from 2022

The test will gain new uses from next year. Photo: Bigstock

This is one of the most important tests, preferably carried out in the maternity hospital, normally 48 hours after the birth of the child. The examination made available by the public health system can detect, today, at least 6 diseases, but the law which plans to increase this number to 50 has already been sanctioned. Implementation has yet to be regulated, but the change begins to take effect in May 2022.

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The small foot test was created to comply with a legal provision of the Statute of Children and Adolescents, 1990, and became mandatory in 2001, with the National Newborn Screening Program. All children born in Brazil must undergo a free examination, which covers at least the detection of the following diseases: congenital hypothyroidism, phenylketonuria, cystic fibrosis, biotinidase deficiency, hemoglobinopathies and congenital adrenal hyperplasia.

These diseases can be masked before birth, so it is essential to take a few drops of blood from the child’s heel for testing. “The treatment of these diseases, if it is started before 10 days of life, has a collective impact on the life of the child. It prevents death and serious sequelae, ”explains doctor Gabriela de Carvalho Kraemer, member of the pediatric endocrinology department of the Pediatric Society of Paraná (SBP).

Diagnosis and treatment

The doctor explains that in the private network the test is broader, covering a greater number of diseases. The difference is that the Unified Health System (SUS) cannot only detect a suspected case, but must ensure the provision of adequate treatment and care. “The social service takes care of the child to consult specialist doctors and perform confirmatory tests, in addition to lifelong follow-up and the provision of medication”, reveals Gabriela.

This is exactly the case with Karine Menegatti, 27 years old. She was diagnosed with phenylketonuria from birth and has been on treatment since then, which essentially consists of a regulated diet without protein consumption and supplementation with a formula provided free of charge. The consequences, when the disease is not controlled, can include brain damage, intellectual disability and seizures.

Last year, when she found out that she was pregnant, Karine needed specific medicines to ensure that her daughter Beatriz had no after-effects, because high levels of phenylalanine in the blood of the pregnant woman. can affect the development of the fetus. “His little foot test went smoothly. It was just joy when we saw the result “, rejoices the mother, who leads a normal life only because the diagnosis was made early.

Step-by-step extension

This is why any change in the law, according to Melissa Kanda, a lawyer specializing in medical and health law, requires regulation and a certain delay. The new legal text provides that the extension of the heel prick test will be done in stages and it will be up to the Ministry of Health to establish implementation deadlines. “There is no point in SUS starting to test all diseases and not being able to treat them. Upon diagnosis, SUS should be prepared to offer follow-up and treatment. We must establish a clinical protocol, ”she reinforces.

The legislative change foresees the inclusion, as a first step, of the test for congenital toxoplasmosis, which, according to the doctor Gabriela Kraemer, is controversial, since the diagnosis of this disease must occur in the prenatal period. “Putting this research into the heel prick test will not prevent complications. This is why we, who work with triage, and the obstetricians, do not agree very much, ”she argues, who, nevertheless, thinks that the enlargement is positive.

In the next steps, it should also include screening for lysosomal diseases, primary immunodeficiencies and even spinal muscular atrophy. “We have to wait for the regulations, but it is an expectation that will be consolidated in the long and medium term”, reinforces Melissa, who concludes: “The biggest challenge is to offer a complete treatment within the framework of the SUS, but it is is an excellent step to focus on primary care and make an early diagnosis ”.

Consult the list of diseases to be detected

phenylketonuria and other hyperphenylalaninemia; congenital hypothyroidism; sickle cell anemia and other hemoglobinopathies; cystic fibrosis; congenital adrenal hyperplasia; biotinidase deficiency; congenital toxoplasmosis; galactosemias; aminoacidopathies; , spinal amyotrophy.

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