Neonatal screening in the National Health System is going to be expanded “from seven to eleven diseases”, as announced by the President of the Government, Pedro Sánchez, during his visit to the Central University Hospital of Asturias (HUCA). However, currently there are numerous autonomous communities that exceed these figures, with the Region of Murcia in the lead. Specifically, the diagnostic strategy promoted by the regional Executive includes the detection of 44 rare diseases.
The Region of Murcia is one of the leading communities in the detection of this type of pathologies, something that is carried out through the Neonatal Screening Program, which is carried out at the Centro de Bioquímica y Genética Clínica, located in the Virgen de Hospital complex. the Arrixaca.
The main diseases they detect are those related to intermediate metabolism. “We screen for 39 pathologies related to intermediate metabolism. In addition, we screen for sickle cell anaemia, a haematological disease, as well as congenital hypothyroidism and cystic fibrosis , endocrine diseases that are also genetic”, according to Inmaculada González Gallego, head of the Metabolopathies Laboratory at the centre.
According to the biologist specialising in clinical biochemistry, the Neonatal Screening Program is based, first of all, on ensuring that newborns benefit from the diagnoses, to be able to access treatments as soon as possible. “We are talking about secondary prevention, which has the objective of providing treatment before symptoms appear.”
“In this entire process, it is essential that all maternity hospitals be informed, so that no child is left untested and coverage is 100%, as we have been achieving in recent years,” adds Inmaculada González Gallego. In addition, there are a large number of professionals who ensure that the entire process runs perfectly.
“The screening process is not only a laboratory ‘event’, there are many professionals involved, who are in charge of taking samples from the newborn or the processes of confirming results. “It is a public health program coordinated by the entire Health System,” says the expert.
Another of the fundamental tasks is to inform parents about the results. Currently, and since 2016, paediatricians in health centres receive this information through medical history programs. If a new sample has to be requested, parents are informed via SMS, with the aim of making the diagnosis as early as possible. “Sometimes you have to request new samples when children are premature or hospitalised, because metabolism can vary,” adds the biologist.
The existence of neonatal screening plans such as the one carried out in the Region of Murcia is essential in terms of equitable access to diagnoses and therapies, in case the result is positive. Furthermore, although there are very few parents who do not participate in screening, the plans help to normalize and enrol as many babies as possible.
“Parents need to know that it is very important to perform neonatal screening. In some countries, this test is even mandatory,” explains the biologist, who also clarifies that, in the future, there will be even more discrepancies in these programs, with the development of new technologies.
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