Argudo-Ramírez Ana, Martín-Nalda Andrea, González de Aledo-Castillo Jose Manuel, López-Galera Rosa, Marín-Soria Jose Luis, Pajares-García Sonia, Martínez-Gallo Mónica, García-Prat Marina, Colobran Roger, Riviere Jacques G, Quintero Yania, Collado Tatiana, Ribes Antonia, García-Villoria Judit, Soler-Palacín Pere
Inborn Errors of Metabolism Division, Biochemistry and Molecular Genetics Department, Hospital Clínic, 08028 Barcelona, Spain.
Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitary Vall d'Hebron, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Universitat Autònoma de Barcelona, 08028 Barcelona, Spain.
Int J Neonatal Screen. 2021 Jul 20;7(3):46. doi: 10.3390/ijns7030046.
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.
2017年1月，加泰罗尼亚地区开始对重症联合免疫缺陷病（SCID）进行新生儿筛查，成为西班牙和欧洲首个全面开展此项检测的地区。2014年，西班牙在塞维利亚进行了一项针对5000份样本的试点研究；此外，2021年至2022年，安达卢西亚东部的新生儿筛查实验室将开展一项针对约35000名新生儿的研究项目。目前，西班牙正在评估是否将SCID纳入筛查范围。本文介绍了加泰罗尼亚地区前三年半的筛查经验及结果。2017年1月至2020年6月期间出生的所有婴儿均通过使用珀金埃尔默公司的Enlite新生儿TREC试剂盒对干血斑进行TREC定量检测进行筛查。共筛查了222857名新生儿，其中48名检测呈阳性。在研究期间，有3名患者被诊断为SCID，发病率为每74187名新生儿中有1例；17名患者患有具有临床意义的T细胞淋巴细胞减少症（非SCID），发病率为每13109名新生儿中有1例，这些患者也从新生儿筛查项目中受益。所获得的结果进一步证明了早期诊断和治愈性治疗的益处，足以证明将这种疾病纳入新生儿筛查项目的合理性。还需要一个全国性的新生儿筛查项目来确定西班牙SCID的确切发病率。
