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Screening is a medical diagnostic technology for a continuous non-selective laboratory examination of all newborns for certain metabolic diseases, designed to ensure the timely detection and initiation of treatment for sick children in order to prevent their disability. The main goal of neonatal screening is to prevent the development of the disease and thereby save the life of the born baby. Hence, the desire of specialists to cover as many inherited diseases as possible with such technology is understandable. It allows parents to identify congenital metabolic disorders in the first weeks of the baby’s life. Such screening is carried out using a blood test or tandem mass spectrometry, which makes it possible to test a child for a host of genetic diseases, including critical congenital heart disease, sickle cell disease, cystic fibrosis, phenylketonuria, and hearing loss (“Newborn metabolic screening,” 2020).
The technique of blood sampling for advanced screening is no different from the procedure for a routine study. Advanced neonatal screening reveals a change in the concentration of metabolites in one direction or another, that is, an increased or decreased content of these substances may indicate the presence of a genetic disease (de Castro, Filippon, Souza, & Weber, 2016). As with mandatory screening, in case of serious abnormalities, the doctor sends the baby to specialized specialists to conduct additional studies and develop a treatment regimen if the diagnosis is confirmed.
Genetic screening of newborns is especially necessary if there have been cases of hereditary diseases in the family, albeit in the distant past. Quite often, healthy parents still carry defective genes and can pass them on to offspring. However, even if no one in the family suffered from genetic diseases, it is still worthwhile to do such an expanded screening of newborns, since the child still has the risk of these pathologies. In Maryland, the screening targets identifying disorders, such as inability to break down breast milk sugar and proteins, congenital hypothyroidism, cystic fibrosis, spinal muscular atrophy, and Fabry disease (“Newborn metabolic screening,” 2020). The goal of these tests is to identify the problems and help to prevent the complications associated with these disorders. Overall, the current Maryland testing guidelines are adequate because they encompass a wide range of key health issues among newborns.
References
de Castro, S. M., Filippon, L., Souza, A. C., & Weber, R. (2016). Evaluation of the genetic screening processor for the performance of newborn screening tests. Journal of Inborn Errors of Metabolism and Screening, 4(1), 1-5.
Newborn metabolic screening. (2020). Web.
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