After being incorporated into the Brazilian health care system “SUS” (Sistema Único de Saúde, or Unified Health System in English) in 1992, the Newborn Screening Test (Teste do Pézinho, in Portuguese) is one of the mandatory exams for newborns in the first week of the baby’s life. Usually done between the third and fifth day after birth, it is accessible both in public and private hospitals all over the country.
The test consists in collecting some drops of blood from the child’s heel – a spot full of blood vessels and easier to get the samples. Nowadays, after the Brazilian Federal Government’s approval, in May 2021, the exam got expanded from 6 to 53 disease detections.
The old analysis could catch illnesses such as Phenylketonuria (PKU), Congenital Hypothyroidism, Biotinidase Deficiency, Hemoglobinopathies, Cystic Fibrosis, and Cell Disease. Now, the new Newborn Screening Test added other important diagnoses such as Glutaric Aciduria Type I, a very rare genetic condition.
Today (06), the exam is completing 46 years in Brazil. To understand its importance, we need to not only look back but also deep into real stories.
The History
The examination was first created by Dr. Robert Guthrie, in the United States of America, between the 1950s and 1960s, to spot only the PKU disease. The exam was so successful that by the middle of the 1960s almost every state was testing for the illness.
However, only in 1976, the test arrived in Brazil by the Association for Special Needs’ Parents and Friends (APAE – abbreviation in Portuguese). At that time, it already revealed one more condition: Hypothyroidism.
In 1992, the exam became obligatory for every baby that was born in Brazilian territory. In 2001, it was introduced to a new governmental program called National Newborn Screening Program, which gathered this and other essential exams for babies and is valid to this day, now detecting more than 50 diseases.
Research done in the USA says that every year, approximately 4 million American newborns are tested for serious disorders and, of this total, 12,000 are detected with some condition. In Brazil, nonetheless, the numbers are a bit different, in the official government’s website, the data pointed out that, only in 2019, 2.2 million infants got screened, resulting in 0.14% of detection, which is equivalent to 3,200 Brazilian newborns.
A Screening Test Story
Fabiana Diniz is a 20-year-old psychology student. In her first living week, she got tested and diagnosed with Cystic Fibrosis, one of the disorders detected by the “Teste do Pezinho”.
However, in 2002, the year Fabiana was born, the disease wasn’t spotted by the free exam yet. Her family, then, just to clear their mind, decided to pay for a “premium” screening test – which is not needed anymore, since the current test provided by SUS detects the illness. That’s when they got the news from the medical team. Marcia Diniz, Fabiana’s mother, conceded an interview for Her Campus to share a bit of their story and what she remembers about the experience.
Her Campus: Do you remember the day that you did the screening? Did you imagine that a disease could be detected?
Marcia Diniz: I do, but never imagined that we would have a problem. Actually, we paid for an extra test (the extended one), but without thinking that could detect something ‘different’ from what is usually expected.
HC: What was the feeling when you got the results back? Were you comforted by the medical crew?
MD: They just told us that there was an alteration and that we should look for a pediatrician. This was the worst part because it felt like a ‘death sentence’. The doctor didn’t know much about Cystic Fibrosis and gave us the wrong information about it.
HC: After the results, what were the next steps to treat the disease? Did the Unified Health System (SUS) give you support?
MD: The first doctor led us to another doctor that knew about the disease and explained all of it. We were routed to the Clinical Hospital of UNICAMP (University of Campinas), an amazing crew that gave us all the support and still does till this day
HC: What was the importance of the exam in your life? Do you believe that it was necessary to fasten the treatment?
MD: The importance was vital, but we only knew by the paid exam. We started the treatment in her very first month.
HC: Nowadays, how is it to live with infirmity? Does SUS offer you the whole treatment? What could be better?
MD: Today, Fabiana is okay, although the condition is progressive and without a cure, with all the treatment, we got to the point where there’s no loss of the pulmonary function anymore and, if it wasn’t for SUS, it would be impossible to do the treatment since the medicines are expensive and of continual use. However, it could be better indeed, she could have a normal life if we could get a medication called Trikafta. We are in the justice to get it because it costs 300 dollars (approximately 1,400 reais) per month.
The Diniz family’s story is one of the thousands out there and Fabiana is an example of how this exam is crucial to every child. Thanks to the quick diagnosis, she had the opportunity to start the treatment as soon as her parents got the results back. This means that, maybe, if it wasn’t for the fast detection, her symptoms could not be in such control as they are today.
If you are expecting a baby, have a newborn at home, or know someone that does, don’t hesitate to get the analysis done. It is almost painless for the child and takes just a few seconds to get the samples. The recommended period to do the screening is during the first week, but can still be done after that.
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The article above was edited by Laura Enchioglo.
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