Neonatal Screening

A review on its importance

Abstract

Introduction: The laboratory exam of the heel prick test is of great importance for
newborns, with the purpose of detecting possible genetic, metabolic and infectious
pathologies, which can be asymptomatic in the neonatal period and cause irreversible
consequences when not treated early. Objective: to conduct a narrative review of the
literature, using the heel prick test. Methodology: The study was conducted in four
databases (Google Scholar, MEDLINE via PubMed, SCIELO, and LILACS), and also
searches in Ministry of Health manuals. The choice of these articles was based on
documents evaluating the understanding of existing publications about the topic under
discussion. Results: Forty-four articles were selected, identifying the importance of
neonatal screening, parents' lack of knowledge, the need for early diagnosis and
appropriate treatment. Discussion: The heel prick test performed by SUS is a public
health strategy that aims to prevent sequelae in newborns, detects six different
pathologies such as: phenylketonuria, congenital hypothyroidism, sickle cell syndromes,
cystic fibrosis, congenital adrenal hyperplasia, and biotinidase deficiency. Conclusion:
In order for there to be an increase in early diagnosis of sick babies and correct treatment,
it is necessary that parents are well informed about the purpose of the neonatal screening
test. Therefore, neonatal screening is significant and brings only benefits to newborns
and their families.
Keywords: Newborn. Neonatal Screening. Diseases. Diagnosis.