16/01/2023
Tamara Ramos
Neonatal screening, commonly known as the “heel prick test”, is a blood test carried out on all newborns to detect potential metabolic diseases that are screened within a specific panel of pathologies. It is performed by extracting a few drops of blood from the heel of the newborn within 48 hours of birdh, which are then absorbed onto a specialized paper approved on both sides.
Currently, the Spanish National Health System (SNS) includes the recognition of 7 diseases* in its portfolio of services:
– Congenital hypothyroidism
– Phenylketonuria
– Cystic fibrosis
– Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
– Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
– Glutaric acidemia type I (GA-I)
– Sickle cell anemia
*Data collected from the website of the Ministry of Health
(https://www.sanidad.gob.es/profesionales/SaludPublica/prevPromocion/Cribado/cribadoNeonatal.htm)
In June 2000, Galicia became the pioneer in launching the expanded neonatal screening by MS/MS, including more pathologies than those offered by the SNS, thus improving survival and quality of life for diagnosed newborns in the region. Other communities and pathologies were gradually added, but without a homogeneous national criteria. This creates an unjust and inequitable system that deprives all newborns in Spain of the same diagnostic opportunities.
The aim of the platform created today is precisely to make this situation visible and ensure a system that can guarantee equitable access to diagnosis, regardless of the place ot birth. We believe that access to expanded screening is a right for all neonates at the national level.
Futhermore, the platform will advocate for quality care for all patients affected by Inborn Errors of Metabolism. All diagnosed patients have the same right to have a reference laboratory that guarantees quality service and optimal biochemical and follow-up controls.
The platform is initially constituted by Lidia Maljarenko, president of ASPYO; Rosi Luque, vice-president of ASPYO; Jesús Ignacio Meco, president of INDEPF, and Pedro Lendínez, president of Mas Visibles. Its scope is national and other associations, scientific societies, personalities, political representatives, research institutes, and people in favor of the cause will be joining its support.