Newborn Screening for SCID: Experience in Spain (Catalonia)

Abstract

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.

Inborn Errors of Purine Salvage and Catabolism

“…Finally, we reiterate the relevance of newborn screening programs, which at present do not represent routine clinical practice. The experiences of the early detection of SCID, using the T-cell excision circle assay technique [ 306 , 307 , 308 , 309 ], represent a remarkable exception. The usefulness of neonatal screening can be questioned by the observation that some of the effects of the disorders may present during organogenesis, including that of the nervous system.…”

Congenital Athymia: Unmet Needs and Practical Guidance

“…In part thanks to the ongoing expansion of universal and pilot NBS programmes for SCID across Europe and elsewhere, [52][53][54][55] increasing numbers of athymic patients are being referred to GOSH in consideration for thymus transplantation. 52,56 For example, in the first 2.5 years of universal NBS for SCID in Germany, 7 patients with congenital athymia have been referred for thymus transplantation, 52 whereas in the 10 preceding years we have only treated a total of 3 patients from Germany (unpublished, GOSH Thymus Transplantation programme).…”

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…A three-part series of articles reviewed the history of Spanish NBS focusing on ethical [1000], legal [1001], and social [1002] aspects of the NBS system. As a result of the variations in NBS across the country, several reports since 2020 have reviewed the history and status of various regional screening successes: 50 years of NBS in Catalonia [1003]; 20 years of NBS in Galicia [1004]; 10 years of NBS in Western Andalusia [1005]; 15 years of NBS for SCD in Madrid [1006]; 3 years of NBS for SCD in Western Andalusia [1007]; screening for propionic, methylmalonic acidemia and vitamin B 12 deficiency in Madrid [1008]; 3 years' experience in NBS for SCID in Catalonia [1009,1010]; 8 years' experience with expanded NBS in Madrid [1011]; evaluation of positive cases from NBS in Madrid [1012]; CAH screening in Madrid [1013]; CH cutoff values in the Balearic Islands [1014]; the role of public health in NBS success in the Basque Country [1015]; and, an improved specimen transport system in Catalonia [1016]. Reports have also addressed issues related to second-tier testing to detect cobalamin (vitamin B 12 )-related disorders, both genetic and acquired [1017], differences in IRT levels between the different groups of newborns with a positive screen (healthy, healthy carriers, affected by CF or CFSPID) [1018], and the potential usefulness of NBS in detecting cystinuria [1019].…”