The heel test in the baby: what it is, how it is done and what it is for
Although popularly known simply by the name of heel test, the truth is that it is medically known by the names of screening or neonatal screening. Each time many Autonomous Communities are including it in their health system, although the diseases that are analyzed and detected are not the same in all of them.
It treats, as we will know throughout the present note, of a very important test that is carried out in the newborn, and that can reduce complications associated with certain diseases.
What is the heel test?
It is an analysis that is to take a blood sample from the newborn baby, in most occasions the heel, in order to check the existence of a possible metabolic disease, and be able to deal with it early.
These metabolic diseases can affect organs such as the lungs, liver or heart, or affect brain development. Moreover, although parents do not suffer from these diseases, most of these diseases tend to be transmitted genetically.
The heel test is very important because if these diseases are detected in time, the medical treatment will help in a very positive way, either to avoid the appearance of symptoms and to the condition develops, or to improve the prognosis in case the disease appears (as is the case of cystic fibrosis).
Moreover, depending on the country in which we find ourselves, it is possible that a single extraction will be carried out, starting at 48 hours of life of the newborn, or a double extraction, the second being taken from the fifth day of life.
How and when is it done?
This is a test that, according to the neonatal Screening protocol prepared by the Commission of Congenital Metabolic Errors of the Clinical Biochemical Society and Molecular Pathology, and published by the Spanish Association of Pediatrics (AEAPED), It is advisable to perform in the first 48 hours of life of the newborn baby.
According to this recommendation, in most cases the test is carried out between 24 to 72 hours of life of the newborn. And the test is performed on all babies interchangeably.
To obtain the sample, it is done with a lancet a puncture in the heel of the newborn baby. Then this lancet is compressed in order to collect a few droplets of blood.
Later this sample is sent to the laboratory, which will carry out the different analyzes to determine the existence or not of any pathology or metabolic disease.
What to do if the heel test is positive?
If the heel test is positive, it tends to be repeated in order to verify that it is not a false positive and that no error has actually occurred. Moreover, it is usual to practice other complementary tests more specific to those diseases or disorders that have tested positive in the sample.
However, if a metabolic disease is confirmed, medical treatment will begin, while parents will also be guided through genetic counseling to analyze whether successive children could suffer from the same problem.
And if it gives negative?
In most cases the result of the heel test is negative. If so, in a few weeks the result will be received at the parents' home, or the pediatrician will inform them of it.
That is, it will be informed of the absence of metabolic diseases in the baby, and it is not necessary to perform any further medical tests.
What diseases can be detected?
With this test, a total of 7 diseases can be detected. They are the following:
- Phenylketonuria:genetic alteration that prevents the organism from being able to process phenylalanine, a part of the proteins. It can cause neurological alterations.
- Hypothyroidism:alteration of the thyroid gland that causes a diminished and insufficient production of thyroid hormones.
- Cystic fibrosis:It is a disease that produces a stagnation of thick and dense mucus in the lungs and pancreas. It arises due to a dysfunction of the CFTR protein, causing a malfunction of the exocrine glands.
- Sickle cell anemia:causes a malformation of red blood cells, preventing the proper transport of oxygen.
- Glutaric acidemia type 1:disorder that hinders the breakdown of proteins, accumulating in the blood and urine.
- LCHADD:disorder that causes the body to have difficulty extracting the energy obtained from the fatty acids from the food consumed.
- MCADD:disorder that causes an incorrect breakdown of some fats from food.
