The extension of the foot test is still in effect at SUS, but is still limited to some states

The National Foot Test Day, which is celebrated every year on June 6, got a special reason to celebrate this year. Since May 26, the public health network, Law no.

The initiative was a breakthrough for the population and the National Neonatal Screening Program (PNTN), as early detection reveals some serious, rare and asymptomatic metabolic diseases that, if left untreated, can affect a child’s development and sequence. irreversible or even death.

However, the new test model is only available to a small section of the Brazilian population, such as residents of São Paulo and the Brazilian capital. Most SUS (Integrated Health System) still performs a traditional test that diagnoses six diseases, including phenylketonuria, congenital hypothyroidism, sickle cell syndrome, cystic fibrosis, congenital adrenal hyperplasia, and biotinidase deficiency.

The coordinator of the IJC Laboratory (Jô Clemente Institute), Sônia Marchezi Hadashi, who carries out most of the tests in the State of São Paulo, explained that this is due to the need for specific processes to monitor the patient, called the line of care. , That not all states have the structure and resources to internalize.

“The line of care includes part of the lab, outpatient, monitoring, medication treatment, infusion, transplant, bone marrow transplant, medications, formulas, in short, the entire clinical protocol that includes the therapy of this patient,” he explains. .

How does the test work?

The examination is performed by collecting blood droplets from the heel of the newborn into a part of the body that is rich in blood vessels. Health professionals recommend doing this between the third and fifth days of a child’s life to speed up the diagnosis. This period can also be completed at the nearest UBS (Basic Health Unit).

The foot test is the first step in identifying diseases. If there is a change in the test, the newborn should be retested and diagnosed with more detailed tests.

All this link is made by the responsible organization, such as the IJC, for an active search sector. There, the team contacts the hospital, UBS, or the family itself, and if the suspicion is confirmed, they send the child to referral centers.

“The SUS foot test is a health program from diagnosis to medication, with specialized follow-up until adulthood,” added Tânia Sanches Bachega, president of FMUSP (Faculty of Medicine, University of São Paulo) and SBTEIM (Brazil). Society for Neonatal Screening of Metabolism of Inborn Errors).

Steps to detect extended test

The new version of the test includes 14 groups of diseases and divides their identification into independent steps.

The former identifies phenylketonuria, congenital hypothyroidism, false cell disease, cystic fibrosis, congenital adrenal hyperplasia, biotinidase deficiency, congenital toxoplasmosis, and other hyperphenylalaninemia and hemoglobinopathy.

In the second, galactose (galactosemia), amino acid diseases, disorders of the water cycle and disorders of beta-oxidation of fatty acids are detected.

The third phase includes diseases that affect cellular function (lysosomal diseases). Fourth, genetic problems in the immune system (primary immunodeficiency). Fifth, SMA (spinal muscular atrophy) is also tested.

The distribution of the sectors is determined according to the test methodology. Sonia explained that the study of the amino acid profile of acetyl carnitine, for example, diagnoses 38 diseases with only a small part of the blood.

Quality of life

Early detection of genetic, congenital, infectious diseases, and birth defects in metabolism and immunity prevents the baby from developing serious health problems.

Severe and rare diseases require immediate clinical intervention and specific treatment to prevent the onset of symptoms and the development of severe sequelae. Sônia believes that a sense of urgency is essential.

“When you take this test early, in addition to improving the quality of life for these children, you are completely changing the context of the family’s reality,” he says.

Delayed recognition can lead to severe intellectual impairment and damage to the central and peripheral nervous system, e.g. These are recurrent hospitalizations, ongoing medications, and illnesses that result in surgery. It is a physical and mental shock for the child and family.

Moreover, the test is beneficial not only for them but also for the state. Tania confirmed this assertion in a study with a master’s student. Research has addressed the disadvantages of late detection of CAH (congenital adrenal hyperplasia), which kills several dehydrated children within 30 days of life.

“We estimated the cost of performing a heel prick test on adrenal hyperplasia in 3 million children born in Brazil each year and how much it would cost to treat complications from late diagnosis due to the lack of a heel prick test in 300 babies. was born in with this disease. As well as the fact that the child’s health has no measurable economic value, the heel test for 3 million children is much cheaper than treating the complications of 300 children, ”he said.

Periodic review

Law 14,154 stipulates that the diseases included in the test will be reviewed regularly, based on scientific evidence and the benefits of screening, diagnosis and early treatment.

In addition, priority is given to diseases that are frequently diagnosed in the country and have a treatment protocol approved and incorporated into the SUS. Currently, the area covered by the IJC’s extended test is 7,000 children in the city of São Paulo alone.

Despite the win, coordinator Sônia Marchezi believes there is still a long way to go.

“It simply came to our notice then. We’re walking, ”he says.

* Fellow at R7 Directed by Fernando Mellis

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