2023-06-23 23:00:16
The World Health Organization recognizes neonatal screening as one of the most effective measures to protect the health of the population.
This test is free in all public health institutions in Mexico.
The technology used in newborn screening plays a crucial role in preventive health care.
Preventive medical care in the first days of babies’ lives is essential to discover the presence of diseases that may not be visible at birth but that put their present and future health at risk. With this in mind, the ours is neonatal It is a basic test that should be applied to all newborns, but do you know what it works for?
He Dr. Arturo Pereapediatrician of the National institute of pediatricsmentions that by detecting and treating genetic and metabolic diseases early, each child can be given the possibility of a future full of health and well-being.
“The main evolution of the neonatal screening has occurred thanks to technology, which has allowed us to expand it and detect multiple diseases whose prevalence is low, but which does not stop being important. Many of them were even diagnosed when babies arrived at a medical emergency department in a critical state, convulsing or in shock, and we did not know what it was until we began to see changes that suggested the possibility of these disorders. ”.
Over the years there have been significant advances in the technologies used in the laboratories of ours is neonatalwhich has allowed to improve the precision and efficiency of this process.
How did the test come about?
Since its inception in the United States in the 1960s by Robert Guthrie There have been a number of technological revolutions, starting with collection on filter paper, a safe medium for transporting biological samples over long distances, as it maintains its biochemical stability.
This increased access to testing for populations in remote communities. Additionally, qualitative processes have become quantitative, bringing more precision and accuracy to measurements. Simple tests (one sample, one test, one result) were gradually replaced by multiple tests (one sample, one test, several simultaneous results), essential for the detection of inborn errors of metabolism.
Illnesses that can be identified
In recent years, the advent of molecular tests has enabled the early detection of extremely debilitating diseases, such as spinal muscular atrophy (SMA), and its subsequent preventive treatment. In addition, genomic techniques such as next-generation sequencing potentially expand the detection power and accuracy of tests.
Currently, laboratory technology combined with available therapies allows more than 50 diseases meet the minimum criteria for inclusion in neonatal screening in different parts of the world.
Among the technologies that have improved the results of these tests is the time resolution fluorimetrywhich allows simultaneous testing of several biochemical markers from a single sample, which reduces time and helps identify the presence of diseases before symptoms appear.
Another important alternative technology is tandem mass spectrometry, which has allowed the analysis of a large number of analytes from a single sample, becoming a valuable tool in the detection of inborn metabolic disorders, which has largely contributed , to the expansion of the neonatal screening.
On the other hand, thanks to advances in DNA sequencingthere are now numerous methods applicable to the study of genes related to inherited diseases, which has allowed for more accurate detection of genetic disorders and has provided health professionals with vital information to make informed decisions about the care and treatment of patients. newly born.
How is neonatal screening carried out?
In Mexico, this neonatal test has become a standard practice in the health system. Neonatal metabolic screening is performed by analyzing a small blood sample taken from the heel, with the aim of detecting endocrine and metabolic diseases such as congenital hypothyroidism, congenital adrenal hyperplasia, phenylketonuria, biotinidase deficiency, galactosemia, and congenital adrenal hyperplasia.
In addition, the introduction of new technologies in recent years has made it possible to include other diseases that could not be detected previously, such as lipid metabolism disorders, spinal muscular atrophy, and congenital immunodeficiencies (such as severe combined immunodeficiency – SCID), expanding the detection panel to more than 50 diseases.
The screening procedure begins with the collection and identification of the blood sample; once the puncture is done, the blood drops are impregnated and dried on a special collection paper that, in turn, will serve as a means of transporting the sample to the processing laboratory. Once the sample is in the laboratory, the analysis begins, in order to have a report of the results. In case the sample does not present reliable results, a second sample must be taken.
One of the key factors in the success of neonatal screening is the ability to perform sample collection at a critical period after birth. The ideal collection window is 48 to 72 hours postpartum, although samples collected up to a week later are also appropriate.
But longer periods represent a missed opportunity for some diseases that manifest clinically in the first days of life. As important as early identification, patient follow-up until diagnosis is finalized and treatment is started are crucial steps for the ultimate goal of prevention to be effective.
Also read:
IMSS creates the first Neurological Screening Center for premature babies and it is located here
The types of neonatal screening that exist and the function of each one
All the diseases that the neonatal screening can identify
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