March 31, 2025

Portugal advances Newborn Screening for Severe Combined Immunodeficiency (SCID)


APDIP celebrates a significant milestone in the fight against primary immunodeficiencies. After years of dedicated advocacy and collaboration with the Portuguese Group of Primary Immunodeficiencies (GPIP), and with crucial support from Kedrion and IPOPI, Portugal is set to implement nationwide newborn screening for Severe Combined Immunodeficiency (SCID).

Following a unanimous recommendation by the Portuguese Parliament in October 2024, the country will officially launch SCID screening on April 1st, 2025, as part of its national newborn testing programme. This groundbreaking achievement represents a critical step towards early diagnosis and treatment, potentially saving the lives of infants born with this rare but life-threatening condition. The implementation demonstrates Portugal’s commitment to improving healthcare for patients with primary immunodeficiencies and serves as a model for other countries seeking to enhance early detection of rare genetic disorders.

APDIP’s president, Ricardo Pereira, emphasised the significance of this development: “This is a historic moment for patients with primary immunodeficiencies in Portugal. Early diagnosis can transform lives, offering hope and effective treatment for babies with SCID before the start of critical complications.” The organisation will continue to closely monitor the implementation process and provide support to ensure the screening program’s success.