Newborn Screening for SCID. Experience in Spain (Catalonia)
Argudo-Ramírez, Ana (Hospital Clínic i Provincial de Barcelona)
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron)
González de Aledo-Castillo, Jose Manuel (Hospital Clínic i Provincial de Barcelona)
López-Galera, Rosa (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
Marín-Soria, Jose Luis (Hospital Clínic i Provincial de Barcelona)
Pajares-García, Sonia (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron)
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron)
Quintero, Yania (Hospital Clínic i Provincial de Barcelona)
Collado, Tatiana (Hospital Clínic i Provincial de Barcelona)
Ribes i Rubió, Antònia (Centro de Investigación Biomédica en Red de Enfermedades Raras)
García-Villoria, Judit (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron)
Universitat Autònoma de Barcelona

Data:	2021
Resum:	Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing. In Spain, a pilot study with 5000 samples was carried out in Seville in 2014; also, a research project with about 35,000 newborns will be carried out in 2021-2022 in the NBS laboratory of Eastern Andalusia. At present, the inclusion of SCID is being evaluated in Spain. The results obtained in the first three and a half years of experience in Catalonia are presented here. All babies born between January-2017 and June-2020 were screened through TREC-quantification in DBS with the Enlite Neonatal TREC-kit from PerkinElmer. A total of 222,857 newborns were screened, of which 48 tested positive. During the study period, three patients were diagnosed with SCID: an incidence of 1 in 74,187 newborns; 17 patients had clinically significant T-cell lymphopenia (non-SCID) with an incidence of 1 in 13,109 newborns who also benefited from the NBS program. The results obtained provide further evidence of the benefits of early diagnosis and curative treatment to justify the inclusion of this disease in NBS programs. A national NBS program is needed, also to define the exact SCID incidence in Spain.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Newborn screening ; Severe combined immunodeficiency ; T-cell receptor excision circles ; T-lymphocytes ; Stem cell transplantation ; PNP deficiency ; TREC ; SCID ; NBS Spain ; NBS Catalonia
Publicat a:	International Journal of Neonatal Screening, Vol. 7 (july 2021) , ISSN 2409-515X

DOI: 10.3390/ijns7030046
PMID: 34294672

9 p, 1.2 MB

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