Heel Test Results, Now What?
If you have a newborn baby, they will do the heel test, once they do it … what does it detect and what is it for?
The arrival of a new member to the family is always a reason for happiness. However, for that happiness to be complete, health plays an essential role. Therefore, the first question to answer when a baby is born is: is it healthy? This question can be solved quickly and easily: the heel test .
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WHAT DOES IT CONSIST OF?
Also called ‘screening’, ‘neonatal screening’ or ‘neonatal screening’, it is based on taking a blood sample from a puncture in the newborn’s heel . The utensil used to perform this test is known as a lancet, which is compressed at the time of the intervention to collect a few drops of blood. The sample obtained is spread on a special sieve paper that is called the ‘Guthrie card’, and which must be sent to a laboratory for further analysis, the result of which will allow us to know the existence or absence of any metabolic disease.
WHEN SHOULD IT BE DONE?
The Spanish Association of Pediatrics and the Commission for Congenital Metabolic Errors of the Society for Clinical Biochemistry and Molecular Pathology determine that the heel test must be performed in the first 48 hours of life , because if any abnormality is detected in the health of the newborn, this will present a better prognosis when it is discovered early, allowing it to be dealt with more effectively and efficiently. These diseases can affect the baby’s brain development, or other organs such as the liver, lungs or heart. Genetics acquires a very important aspect in these circumstances, since these diseases are transmitted from parents to children even if the parents do not suffer from them.
WHAT TO DO TO EASE THE PAIN
Although the puncture can cause some pain or discomfort in the baby, there are different resources to make the heel test as less cumbersome as possible, being very useful to breastfeed while the test is performed, give it sugar water or caress it .
POSITIVE OR NEGATIVE RESULT
If the test result is positive , a second sample would be carried out to rule out a possible false positive , since there are often cases in which a disease is diagnosed that is not actually suffered. To carry out this second sample, it is necessary to obtain the consent of the parents. If so, it must be done between the fourth and seventh day of life. To determine the best prognosis to treat the disease that the newborn may present, other complementary tests should be carried out according to the disease that threatens the baby.
If, on the contrary, the result is negative , it will not be necessary to resort to any other procedure.
THE IMPORTANCE OF AN EARLY DIAGNOSIS
The heel test is essential to detect rare diseases, and although at first it is possible that obvious signs of their existence do not appear, they can affect the child in the first months of life .
WHAT DISEASES CAN BE DETECTED?
The pathologies that can be diagnosed by the aforementioned test are the following:
– Phenylketonuria: congenital disease that affects the baby’s digestive system by not being able to digest phenylalanine , a protein present in foods such as eggs and meat. As it is not digested, it can be poisonous to the body, attacking the neurological system in its development. To avoid this evil, we proceed to the elimination of foods with phenylalanine from the diet of the little one.
– Congenital hypothyroidism: in this case, the thyroid does not produce the normal amounts of hormones . This disease can impair the baby’s later growth or cause mental retardation. In order to reach the correct levels of thyroid hormones, the child must take hormonal medications, since only then will it be able to develop in a healthy way.
– Sickle cell anemia: this genetic disorder causes an alteration in the red blood cells, which translates into difficulty in transporting oxygen in various parts of the body and whose disease can lead to delays in the development of some organs. In these circumstances, treatment is only carried out when an infection appears, such as pneumonia or tonsillitis. Depending on the severity of the baby, blood transfusions may be performed.
– Congenital adrenal hyperplasia: this disease involves a deficiency in the production of some hormones and an extreme increase in others , which in the long run results in excessive growth, precocious puberty and various physical problems. To alleviate this disease, one must resort to hormonal replacement medical treatment throughout life, thus compensating for the lack of hormones and / or balancing the amount of excess hormones.
– Cystic fibrosis: the respiratory system and the pancreas are the main affected by this problem due to the production of a large amount of thick and sticky mucus , which accumulates in the lungs and digestive tract. To alleviate it, there are several factors to take into account: anti-inflammatory drugs, dietary care and respiratory physiotherapy. This care will alleviate the symptoms of the aforementioned disease, facilitating breathing.
– Biotinidase deficiency: this congenital problem leads to an inability of the body to recycle biotin , an essential vitamin to ensure the health of the nervous system. The baby who suffers from it may suffer seizures, lack of motor coordination, delayed development and hair loss. The treatment to be followed in these cases is the intake of the vitamin biotin throughout life, as the organism is not capable of using said vitamin by itself.
AFTER DIAGNOSIS …
If after the heel test the doctors detect any of these diseases, the next step would be to go to a consultation with the specialist of the pathology in question. Despite the fact that, in any of these cases, it is a problem in the health of the newborn, following the relevant treatment we would not be facing an obstacle in the life of the newborn. However, its correct development and its health depend on the early diagnosis of the aforementioned diseases, since the sooner it undergoes specialized medical treatment, the greater the possibility of a cure or a better quality of life.
Dr. Tabriella Perivolaris, Sara's mother and fan of fashion, beauty, motherhood, among others, about the female universe. Since 2018 she has been working as a copywriter, always bringing to her articles a little of her experience and experience as a mother and woman.