O foot test also known as neonatal screening , is a test capable of early detection of a series of genetic and metabolic diseases. The test is part of the National Neonatal Screening Program (PNTN) and must be carried out between the 3rd and 5th day of the baby’s life, according to recommendations from the Ministry of Health.
This Thursday (6), the National Foot Test Day, aiming to raise awareness among the population about the importance of the exam. When performed on newborns, screening allows for the early diagnosis of diseases such as phenylketonuria, congenital hypothyroidism, cystic fibrosis and several other genetic, metabolic, endocrine and infectious conditions, allowing the initiation of appropriate treatment and offering a greater quality of life for the child. child.
What is the heel prick test for?
According to Thaísa Lucktemberg, biomedical doctor and supervisor of the Neonatal Sector at DB Diagnósticos, the heel prick test is used to detect diseases that are often asymptomatic in the first days of life.
“With just a little bit of the baby’s blood, it is possible to prevent serious complications, identifying diseases that could cause developmental delays, prolonged hospitalizations and highly complex treatments that would be necessary if the diseases were diagnosed late”, he says.
What diseases can be detected by the heel prick test?
Among the diseases that can be detected by neonatal screening are congenital hypothyroidism, phenylketonuria, sickle cell disease, aminoacidopathies, cystic fibrosis, congenital adrenal hyperplasia and biotinidase deficiency.
In 2021, Law No. 14,154 was approved, which increased the number of diseases detected by the heel prick test to 53, including the six that were already detected by the basic heel prick test. It is possible to check the complete list of conditions that can be diagnosed by the exam here.
What is the importance of the heel prick test?
The importance of carrying out the heel prick test is to detect serious illnesses early in life. One of them is phenylketonuria, a condition in which the body cannot metabolize an amino acid called phenylalanine. If left untreated, this disease can lead to brain damage. With early diagnosis, it is possible to start a special diet for the child as the substance is present in several foods rich in proteins, such as meat, eggs and milk.
Another example is spinal muscular atrophy (SMA), one of the diseases that will be incorporated into the SUS exam in the last phase of expanding the heel prick test. This is a progressive neuromuscular disease that can lead to death, especially in cases where the onset of symptoms is early, due to respiratory and swallowing impairment.
The diagnosis of SMA using the Heel Prick Test is essential, from the point of view of Juliana Gurgel Giannetti, child neurologist, president of the Brazilian Society of Child Neurology.
“The best treatment for SMA is the one that starts quickly. This is the crucial difference in expanding neonatal screening, because these children would undergo consultation with a pediatrician or child neurologist and no signs of the disease would be identified. So, when they return to the doctor, they may already experience weakness, difficulty breastfeeding or breathing”, he explains.
When and where should the heel prick test be done?
The heel prick test must be performed on all newborns between the 3rd and 5th day of life. Generally, the exam is carried out in the maternity ward, but if the baby is discharged before the test is collected, he or she can be sent to the reference Basic Health Units (UBS) to collect the exam.
According to the Brazilian Society of Clinical Pathology and Laboratory Medicine (SBPC/ML), premature newborns can also undergo the test. However, there may be a call for a new collection between the 2nd and 6th week of life, depending on the immaturity and procedures that the premature baby needed to undergo in the neonatal unit.
In Brazil, the National Neonatal Screening Program (PNTN) offers free heel prick testing in the Unified Health System (SUS), covering more than 50 diseases in some regions of the country. On the private network, it is possible to find other versions of this test, which differ in terms of the techniques used and the number and group of diseases to be analyzed.
How is the test done?
The heel prick test is carried out by collecting a small sample of blood from the newborn’s foot — and this is the origin of its popular name — on specific filter paper. This sample is taken for analysis in the laboratory, which can identify the presence or absence of metabolic, genetic, enzymatic and endocrinological diseases.
“It is understandable that parents are distressed, but the exam is always carried out by experienced professionals who carry out everything with precision and speed. With a very thin needle, called a lancet, a few drops of blood are collected from the baby’s heel and absorbed by a special paper. The exam is carried out in this location because there are many blood vessels there, which facilitates access to the baby’s blood”, explains Lucktemberg.
Source: CNN Brasil
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