Heel prick test: early diagnosis of serious and rare diseases

The heel prick test performed in the maternity ward, through the collection of drops of blood from the feet of newborns, is the fastest, simplest and safest way to detect some serious and rare diseases. Currently, the test encompasses six diseases: phenylketonuria, congenital hypothyroidism, sickle cell syndrome, cystic fibrosis, congenital adrenal hyperplasia and biotinidase deficiency.¹

The good news is that a new law was enacted – Law nº 14,154, by which the exam will cover 14 groups of diseases, increasing the number of diseases screened by the test to 50.

Screening for new diseases in stages

The first stage of the test expansion will include diseases related to excess phenylalanine, hemoglobin-related pathologies and congenital toxoplasmosis. In the second stage, the high level of galactose in the blood, the aminoacidopathies, the disturbance of the urea cycle and the disturbances of beta-oxidation of fatty acids will be detected. In the third stage, diseases that affect cellular functioning will be included in the Foot Test and in the fourth stage, genetic problems in the immune system. From the fifth stage on, spinal muscular atrophy will also be tested.²

2.4 million tests per year.

According to the Ministry of Health, the SUS performs 2.4 million tests annually in more than 28 thousand places, between maternity hospitals and Basic Health Units, covering more than 80% of those born in Brazil. These tests are able to detect many rare diseases and help to provide an early diagnosis since 75% of cases manifest in childhood.2 A fundamental procedure not only to save lives, but also to improve the quality of life of diagnosed patients.

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References:

1. Virtual Health Library. Ministry of Health. Foot test. Available in: https://bvsms.saude.gov.br/teste-do-pezinho/ Accessed in November 2021.
2. Government of Brazil. The Foot Test will be expanded and will detect up to 50 new diseases. Available in: https://www.gov.br/pt-br/noticias/saude-e-vigilancia-sanitaria/2021/05/teste-do-pezinho-sera-ampliado-e-detectara-ate-50-novas-doencas Accessed in November 2021.