THEthe right to early diagnosis for newborns is sanctioned by Law 167/2016. The law requires testing for 49 diseases at birth. But it also provides for a periodic review of the list of pathologies to be evaluated, to keep pace with research progress. And instead the decree updating the list, or Extended Newborn Screening (SNE), there is not. Some Regions have independently expanded the scope and included new diseases to investigate through pilot projects, which in some cases have since been stabilized. Others don’t.
Expanded newborn screening, when it makes the difference between living and dying. In which regions is it active and where it is not
As in Italy the possibility of living or dying depends on where you are born. For example? In Veneto people die. How did he die Ettore at just over 1 month old: he was born with SMA – Spinal Muscular Atrophy. A rare neuromuscular pathology for which there are three therapies that can not only save lives but improve them. It is enough to recognize the disease in time. The Veneto region will introduce screening, on a voluntary basis, from January 2024.
SMA is one of the diseases that must be included in the update decree according to the Rare Diseases Observatory. A step that has been awaited for more than two years and whose urgency has been brought back to the center of attention by the death of little Ettore. To find out where the process is at of this decree is a question to the Minister of Health was presented yesterday in the Senate (first signature of Senator Matteo Renzi). And the associations and bodies dealing with this issue ask for timely responses.
The ultimatum of the SMA Families: sign the decree or protest indefinitely
«The doubt is that the sacredness of life is an intermittent Christmas light that turns on and off based on political beliefs, regional affiliation and proximity to certain events. If between now and the end of the month there is no signature or at least a strong and clear position, we will take to the streets in a permanent sit-in and we will not leave until that signature arrives. Because children cannot die from a lack of will,” he said Anita Pallara, President of Famiglie SMAduring a press conference organized this morning byHonorable Ilenia Malvasi in collaboration with the Rare Diseases Observatory-OMaR
Children suffering from SMA and treated: the stories of those born in the right region
About the history of two children suffering from SMA diagnosed promptly and treated as they deserve a short was made. Is titled Have you ever seen a unicorn?. It is the story of Antonio and Aurora, a story of possibilities. The effectiveness of their therapies is, as the children’s parents explain, linked to the timeliness with which they were evaluated, which, in fact, can be guaranteed through the Extended Newborn Screening (NES).
Newborn screening is a biochemical test that allows the identification of various congenital diseases in the newborn. Pathologies which, if not diagnosed and treated promptly, can cause mental and/or growth retardation, serious permanent damage and in some cases death. But it screening it is also a tool to improve knowledge on the natural history of these diseases and encourage the development of therapies.
Italy pioneer of newborn screening: how the test is carried out
With Law 167/2016 we were the first country to ensure that all newborns are tested for a series of rare metabolic diseases which, if not caught in time, can lead to disability or early death. The test is carried out within 2-3 days of the baby’s birth, in the hospital.
This is a non-invasive test, which involves taking a drop of blood from the newborn’s heel, which is collected on absorbent cardboard and sent for analysis to the regional reference center. In less than five days, it is possible to discover whether you are positive for the diseases being examined.
A blood sample from the baby’s heel for newborn screening (Getty)
Once the necessary confirmations have been received, the most appropriate treatment can be started immediately. The neurological damage and developmental delays that these diseases cause are almost always irreversible if therapeutic intervention (dietary or pharmacological) is not early.
The 39 pathologies researched and the 10 waiting to join the panel
There are currently 49 pathologies subject to Extended Neonatal Screening: 47 metabolic pathologies, cystic fibrosis, congenital hypothyroidism and phenylketonuria. However, there are 10 pathologies, or groups of rare pathologies, which would have all the requirements in order to be integrated into the national panel of Extended Neonatal Screening (ENS), including SMA. Below is a mapping of where newborn screening for SMA actually is or will soon be carried out.
In addition to spinal muscular atrophy (SMA), Mucopolysaccharidosis type 1 (MPS I), Severe combined immunodeficiencies (SCID), Adenosine deaminase deficiency (ADA-SCID), Purine nucleoside phosphorylase deficiency (PNP-SCID), X-linked adrenoleukodystrophy (X-ALD), Congenital adrenal hyperplasia (GAS) Adrenogenital syndrome, Pompe disease, Fabry disease (X-linked), Gaucher disease.
The Regions that include screening for SMA and those that aren’t even thinking about it
They include the Sma Abruzzo, Campania, Lazio, Lombardy, Liguria, Puglia, Piedmont + Valle d’Aosta, Tuscany, the Autonomous Province of Trento and the Autonomous Province of Bolzano. They have the start of experimental projects is scheduled Basilicata (motion approved to start a partnership with Puglia similar to that of Piedmont + VdA), Marche (motion in the Regional Council approved in 2021. Process stopped), Sardinia (Regional Law approved but for operation the signature of the ASL general management is missing territorial). Veneto (the region has approved a law asking Padua and Verona to start pilot projects, Padua should start in December). Fruli Venezia Giulia had the pilot project until the end of 2022, but did not renew it. However, no initiatives for SMA screening are currently active or about to start in Calabria, Emilia Romagna, Molise, Sicily and Umbria.
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