Promoted by the Argentine Federation of Rare Diseases (FADEPOF), specialists from Argentina raised the need to incorporate 20 diseases in the «neonatal research» -a study carried out based on a blood sample drawn from the heel of newborns in search of congenital diseases that are not seen with the naked eye and that when detected allow early treatment to reduce morbidity and mortality-, on the eve of the World Day of this practice.
The director of the Program for the Detection of Congenital Errors of the Fundación Bioquímica Argentina and tenured professor from the Faculty of Exact Sciences of the National University of La Plata, Gustavo Borrajowarned that «in the absence of treatment, these diseases turn out to be extremely severe and serious, being able to cause neurological damage, fundamentally Mental retardation; in some cases it produces disabling involvement of multiple organs or fabrics, and can even reach produce death of the newborn during the first days of life.
In this context, Borrajo highlighted Télam that “fortunately these diseases have effective treatment due to early implementation” and said that, as they do not present symptoms to establish a clinical diagnosis, “biochemical markers must be used that are altered in the blood of these newborns”.
Free in all hospitals
In Argentina, There are six rare diseases (EPOF) that are included in the research neonatal care, established by National Law 26279, enacted in 2007: phenylketonuria, congenital hypothyroidism, cystic fibrosis, galactosemia, congenital adrenal hyperplasia, and biotinidase deficiency.
The investigation of these diseases, known as the ‘heel test in the newborn’, It is free in all maternity hospitals in the public sector, and must be carried out on a mandatory basis for all newborns regardless of whether the birth occurred in public or private sector institutions, not before the baby is 48 hours old and no later than 5 days after at his birth; in private centers its realization is covered by social and prepaid works.
“What we are proposing is that three families of diseases be incorporated into neonatal research: those that specifically affect amino acids, which are called amino acidopathies; those that affect organic acids, organic aciduriasand those that affect the oxidation of fatty acids and are called ‘beta oxidation defects of fatty acids’, he indicated.
And he added that “these three families of diseases make up a group of approximately 20 pathologieswhich can be detected with an advanced technology called ‘tandem mass spectrometry (EMT)’, and which has been routinely implemented in developed countries for more than 20 years”.
Borrajo pointed out that “in Argentina this study was tried to be implemented on several occasions but it was not possible due to financial constraints given that the equipment that is required has very high costs” and highlighted that “the 20 pathologies of these three families of diseases have effective treatment in the face of early implementation.”
With the incorporation of EMT technology 20 new diseases could be detected simultaneously in a single test which added together would mean detecting them in 1 case of every 3,600 to 4,000 live births.
Since three years ago, Every June 28 marks the International Day of Neonatal Screening.a date instituted by the International Society for Neonatal Screening (ISNS) in conjunction with the International Organization for Patients with Primary Immunodeficiencies
(IPOPI) and the European Society for Immunodeficiencies (ESID), in recognition of the birth of Dr. Robert Guthrie, the microbiologist who introduced the blood drop on filter paper and a new test to screen for PKU (phenylketonuria) in the United States in the 1960s.