During the neonatal period, that is, in the first 28 days of life, it is essential to carry out tests to find out if the baby is healthy and investigate possible diseases. In addition to the heel prick test, carried out on 96.5% of children, according to research data “Neonatal screening tests in Brazil: prevalence rates and regional and socioeconomic inequalities”published in Jornal de Pediatria, other less well-known analyzes should also be carried out.

The little heart test, for example, is equally important and can detect critical congenital heart disease, a disease that affects 1 to 2 babies for every thousand newborns and, in 30% of cases, is not diagnosed, according to the Oswaldo Cruz Foundation (Fiocruz).

Bianca Borges, an obstetrics professional at AmorSaúde, highlights the importance of exams and states that they do not cause much discomfort or pain in the baby. “These tests are considered safe, non-invasive or minimally invasive procedures, that is, they do not hurt much, and are very low risk”, he explains. According to the doctor, carrying them out could be the key to keeping the baby healthy.

Tests and diseases detected

Bianca Borges explains that screening tests neonatal can detect deafness, vision or heart problems, and treatable illnesses. The doctor details each of the tests and explains how they are performed:

1. Foot test: it must be done between the 3rd and 5th day of life, by collecting drops of blood from the baby’s heel. The examination, in the private network, detects a wider range of diseases and can find signs, for example, of thyroid deficiency, anemia and phenylketonuria, a rare disease that causes brain problems, but is treatable if detected early;
2. Eye test: In this exam, the doctor checks the reflection of light on the baby’s retina. It is possible to check for changes in the eyes that can block vision, such as congenital cataracts, congenital glaucoma and retinoblastoma, a type of eye tumor;
3. ear test: a small earphone is placed in the baby’s ear to assess whether the child responds to sound stimuli. In this way, it is possible to detect congenital deafness;
4. Little heart test: must be done between 24 and 48 hours of life. The exam measures blood oxygenation in the baby’s right hand and one of his feet. With the result, it is possible to analyze whether there are heart diseases, such as heart malformations that require early surgery;
5. tongue test: only available in the private network, this test evaluates the newborn’s tongue brake. The exam detects ankyloglossia, popularly known as tongue tie, which can interfere with breastfeeding and, in the future, speech.

According to Bianca Borges, if doctors detect changes, the tests can be redone. “In the case of the ear test, if the baby does not respond to stimuli in the maternity ward, he must repeat the exam within 30 days. The eye test, in turn, needs to be repeated by the pediatrician in routine consultationsat least twice a year, until the age of 3, as some conditions may manifest themselves later”, he summarizes.

Risks of not taking the exams

Failing to take neonatal screening exams can pose major risks to the newborn and lifelong complications. “The biggest danger of skipping or delaying these exams is that the vast majority of diseases screened are asymptomatic at first. That is, the baby appears perfectly healthy for weeks or months, while the disease is acting silently”, warns Bianca Borges.

According to the doctor, not treating diseases in the first days of life can cause irreversible consequences. “In the case of congenital hypothyroidism and phenylketonuria, detected by the heel prick test, the lack of immediate treatment leads to an irreversible delay in the baby’s development and can lead to intellectual disabilities”, he emphasizes.

Ignoring or delaying exams can also lead to permanent blindness or deafness and prevent the correct development of brain functions. Furthermore, the doctor also highlights that the absence of exams causes a risk of sudden death. “Undiagnosed heart diseases and crises resulting from congenital adrenal hyperplasia can be fatal in the first months of life”, he states.

Initial screening does not define diagnosis

Finally, Bianca Borges argues that an altered result in the initial screening is not a definitive diagnosis, but a warning sign that the baby needs attention. In case of changes, parents should not despair, but seek assistance from a pediatrician. “The baby will be sent for specific tests, such as blood tests, or for evaluation by geneticists, cardiopediatricians and ophthalmologists, to confirm or rule out the disease”, he explains.

According to the doctor, treatments may include special infant formula, hormone replacement, use of eye drops or surgery. “The sooner treatment begins, the greater the chances of the child growing up without sequelae and with an excellent quality of life”, he reinforces.

By Fellipe Gualberto