![]() A meeting report with more information will be available soon on the IPOPI website. Beginning February 28, 2022, babies will be screened for spinal muscular atrophy (SMA) through a pilot program funded by Muscular Dystrophy Canada. The event marked an important milestone in IPOPI’s SCID NBS advocacy campaign in Europe and helped identify the way forward in Italy. The Italian National Pediatrics Society and the Italian Rare Diseases Organisation (UNIAMO) were also in attendance. Newborns with low levels of this marker are at higher risk for SCID. This process uses the same dried blood spots already collected for screening of other disorders. SC ID screening measures levels of a T-cell marker. The meeting was supported by the Italian Undersecretary for Health through a statement read during the event. An evaluation of screening for severe combined immunodeficiency (SCID) in England began on 6 September 2021. Newborn screening for SCID can happen along with routine newborn screening for other conditions during the first few days of life. SCID affects approximately one in 60,000 newborns worldwide. Early detection and treatment can help prevent irreversible impacts to a child. Many of these conditions are very uncommon or rare. An abnormal TREC result, revealed through the newborn screening blood test, suggests low T cell counts, indicating either SCID or a different condition associated with T-cell immune deficiency. Newborn screening looks for easily detectable and preventable diseases linked to inherited and non-heritable disorders. Mr Gaetano Priolo (AIP) and Mrs Bianca Pizzera (IPOPI Honorary Vice President) also both provided the patients viewpoint from a national and international perspective. The newborn screening hearing and pulse oximetry results are ready immediately and the newborn screening blood test, or heel stick, results are available within a week. Several experts and representatives from the Health authorities spoke at the event including among others Professor Chiara Azzari (Florence) who is heading a SCID newborn screening pilot programme in Tuscany, Prof Maria Cristina Pietrogrande (Milan), Prof Raffaele Bodolato (Brescia), Dr Serena Battilomo from the Ministry of Health. John Routes, Professor of Pediatrics at the Medical College of Wisconsin, was the principal investigator for the first statewide program to screen all newborns for SCID. The meeting was chaired by Senator Paola Taverna with the support of Senator Laura Bianconi and aimed at promoting the need for implementation of SCID NBS in Italy. The incidence of SCID is estimated at 1 per 58,000 births which may suggest infrequent NBS SCID screen positive results in states with low annual birth rates. IPOPI in collaboration with its Italian National Member Organisation Associazone Immunodeficienze Primitive (AIP) and Italian experts in the field held a meeting on SCID newborn screening (NBS) at the Italian Senate in Rome on 29 September 2015. In 2008, newborn screening (NBS) for severe combined immunodeficiency (SCID) began as a pilot study in Wisconsin and has recently been added to every state’s newborn screen panel. Professor Bobby Gaspar, an expert in paediatrics and immunology at Great Ormond. ![]()
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