Extended neonatal screening: save life but, for some diseases, it is done only in a few regions

Currently about 50 rare genetic diseases, for which I am Treatments and care availablecan be diagnosed with birth, before the symptoms are manifested, thanks to the extended neonatal screening (Sne): it means start immediately the suitable therapy (also a special diet) in order to avoid or limit damage and serious disabilities or save the life of the child very. There Budget law 2019 (n.145/ 2018 art. 1, paragraph 544) has then extended the sne to other pathologies for which therapies are available today, such as the Spinal muscle sma-lotophy. Currently, however, Pending the ministerial decree that updates the list of diseases to be found with the SNE, The right to early diagnosis and care is only due to children born in some regionswho have decided independently, with their own measures, to broaden neonatal screening to other pathologies. Hence the appeal to the institutions, during a conference in Rome promoted by Uniamo-Federation Italian rare diseases, to make the procedures are faster e guarantee the implementation of the SNE in almost real timeWhy thefor children’s life born with a serious one rare disease does not wait for i Long times of bureaucracy.

Right to screening, mandatory and free for about 50 diseases

What is the situation of neonatal screening in Italy today? To take stock of how this important works prevention tool It is « the barometer of monitoring – neonatal dossier screening. An analysis on the application of law 167/2016 and regional extensions. The Effemerids of We united « , created by Fimr and presented during the conference in Rome, which was attended by members of the parliamentary ceiling rare and oncohematological diseases, representatives of associations and institutional, specialists and neonatal screening experts.
Well, as the relationship points out, Italy is the European country with the more advanced neonatal screening policybut need Further steps forward.
In particular, extended neonatal screening was introduced by Law n.167/2016 « Provisions on compulsory neonatal diagnostic investigations for the prevention and treatment of hereditary metabolic diseases », For about 50 hereditary metabolic pathologies – for which treatments are available – identified by a ministerial decree.
In 2017, SNE to search for these pathologies, mandatory and free, was inserted in the Lea, The essential levels of assistance (DPCM January 12, 2017, art. 38 paragraph 2), sanctioning the right of every child who was born in Italy to extended neonatal screening.

In which the test consists and what happens if a disease is suspected

The Test, painless and non -invasiveis done picking up from the heel of the newborn between 48 and 72 hours from birth, a few drops of blood which is collected on an absorbent cardboard, sent for analysis to the reference center.
If the newborn is positive for the testTherefore A disease is suspectedfurther diagnostic investigations are performed. In the case of confirmation of the diagnosis, the child comes taken in charge at the reference clinical center To start the therapy immediatelyspecific for that disease, and follow the expected checks.
As we reiterate the report of us, it is not a « simple » test, but of a « real path of early diagnosis and taking charge of various congenital diseases», For which » exist therapeutic interventions
specific That, if undertaken before the manifestation of symptomsare then degree to improve significantly the prognosis of the disease and the quality of life of children, avoiding serious disabilities And sometimes, death « .

New rare diseases to be searched with sne

Meanwhile, The research goes on and there were important ones Therapeutic novelty Compared to other pathologies before not negotiable such as, for example, the SMA. For this the Budget Law 2019 (Article 1 paragraph 544) extended the screening to some neuromuscular diseases of genetic origin, Severse congenital immunodeficiencies and lysosomial accumulation diseasesfor which treatments are available today and, moreover, has established the« at least biennial » update of the « List of pathologies to be found through neonatal screeningin relation to the evolution over time of scientific evidence in the diagnostic-therapeutic field for hereditary genetic diseases ».
For another very serious disease like the metacromatic leukodystrophy Today both gene therapy is available, developed thanks to the search forSan Raffaele-Telethon Institute (Sr-STEET) of Milan, both the test to identify the disease, developed to the neonatal screening laboratory of the Meyer University Hospital in Florence. The first pilot project on neonatal screening for metacromic leukod scene started in March 2023 in Tuscany, thanks also to the economic contribution resulting from the fundraising campaign Drops of hope Promoted by the Voa Voa Onlus Association – Friends of Sofia. The president of the Association, Guido De Barros, father of little Sofia who disappeared in 2017, says because of the disease: « It cannot be acceptedas happened recently to little joy (we talked about it here) che the right to early diagnosis depends on the region in which it is born. Every day of delay in the introduction of national screening it is potentially one compromised life « . In addition to Tuscany, the screening for metacromatic leukodystrophy has been made since 2024 in some birth points of the Lombardy Region.

The case of the little joy that has metacromatic leukodystrophy

For another very serious disease like the metacromatic leukodystrophy (MLD) Today it is available both gene therapydeveloped thanks to the search forSan Raffaele-Telethon Institute (Sr-STEET) of Milan, both the Test to identify the diseasedeveloped at the Neonatal screening workshop of the Hospital-University Meyer of Florence.
In Tuscany, the first pilot project on neonatal screening for metacromatic leukodystrophy, thanks to the economic contribution of the Voa Voa Onlus Association – Friends of Sofia, the result of the fundraising campaign started in March 2023 in March 2023 in March 2023 Drops of hope. Today in this region if a newborn receives the diagnosis of MLD can promptly access gene therapy. From 2024 lO screening for metacromatic leukodystrophy is done in some birth points of the Lombardy region.
The president of the association, Guido De Barros, father of little Sofia who disappeared in 2017, says because of the MLD: «It cannot be accepted che the right to early diagnosis (and care) depends on the region in which it is bornas happened recently to little joy (we talked about it here). Every day of delay in the introduction of national screening it is potentially one compromised life « .

Tortuous process

Currently the Update methods of the list of diseases to be found with the SNE provides Various steps: first of all, the examination within the working group specifically established at the Ministry of Health, which identifies the diseases to be included in the official panel, follow the technical verification by the offices of the Ministry e The approval of the update proposal by the Lea Commission. It is not over: in fact, the Green light to the so -called « tariff decree » (entered into force in December 2024) before proceeding to update the Lea; Now the Ministerial decree which updates the official panel of the pathologies to be tested with sne.

Experimental projects in some regions

In the meantime, some regions, with its own measureshave started experimental projects to extend neonatal screening to others rare genetic pathologiesin addition to Qelle listed in the official panel. So it happens that the infants who are born in 13 Regions they have the right to perform Free neonatal screening for SMA, in some other region can do the screening for the metracromatic leukodystrophy for free. And again, as the report of the United, seven regions, guarantee all infants, or some, screening for thecongenital adrenal hyperplasia (CAH) or adrenogenital syndrome, 21-hydroxylase deficit (SAGC) e congenital heart diseases by saturation O2 Ductal posts.
Six regions have started the screening program for Decarbossilase deficit of the aromatic L-amino acids, Fabry disease e mucopolisaccaridosis type I (Mps I).
Again: Sardinia, Veneto, and autonomous provinces of Bolzano and Trento are realizing it Screening for early diagnosis of glucose-6- (G6PD) while others five regions (Abruzzo, Autonomous Province of Bolzano, Sardinia, Tuscany, Umbria) are equipped for the screening of the evolutionary dysplasia of the hips (GODDESS).
Veneto, Sicily and Lombardy guarantee the SNE for the Zellweger disease (Sicily and Lombardy not yet for all infants).

Quick process to guarantee the same right to infants

The situation is therefore a leopard spot with evident discrimination between infants who, depending on the region in which they are born, have the right or not to screening for certain diseasestherefore to the early diagnosis and care. Hence the request for together faster procedures that can guarantee, in a uniform way throughout the national territory, the implementation of the SNE in almost real time.
Annalisa Scopinaro, president, says: « The procedure is linked to the update of the essential levels of assistance which however took place after 7 years: The process could also be fine if the update took place every yearallowing you to expand the disease panel to be found in a short time through sne, throughout Italyas are available New therapies. If, on the other hand, the update will not be really annualone is needed administrative simplification which allows to synchronize the arrival of new therapies and the expansion of the SNE: The timing make the difference between life and death».