Department of Pediatrics, Division of Immunology and Allergy, School of Medicine, Ankara University, Ankara, Türkiye.
Department of Forensic Medicine, Forensic Genetics Laboratory, School of Medicine, Ankara University, Ankara, Türkiye.
Front Immunol. 2024 Oct 2;15:1384195. doi: 10.3389/fimmu.2024.1384195. eCollection 2024.
The measurement of T-cell receptor excision circle (TREC) is used for newborn screening (NBS) in dried blood spot (DBS) samples from Guthrie card for severe combined immunodeficiency (SCID). Here, we report the results of first newborn screening pilot program for SCID conducted in Türkiye.
The study was carried out together with Ankara University School of Medicine and The Ministry of Health, Public Health General Directorate, Pediatric and Adolescent Health Department. TREC measurements were performed in randomly selected Guthrie card samples obtained from 20253 babies born between October 2018 and October 2020. The TREC analyses were performed together with beta Actin (β-Actin) via RT-PCR (Real Time Polymerase Chain Reaction).
TRECs found to be normal (≥15 copies/µl) in 98,6% of the newborns (n: 19975) but low (<15 copies/µl) in 1.4% (n:278) at the initial analyses. TRECs were retested in 278 suspected infants and found to be normal in 160 (0.8%) while low in 118 (0.58%). New DBS were obtained from the babies with low TRECs (new sample test). TRECs were normal in 108 (0.53%) of the new sample tests and low in 10 (0.049%). Two among 10 babies who had abnormal (undetectable) TRECs were diagnosed as SCID; ADA (P1) and RAG1 (P2) defects were confirmed respectively. They both received curative treatments [gene therapy (P1) and HSCT (P2)]. The remaining 6 of 8 newborns with abnormal TRECs were found normal after clinical and laboratory immune work-up, while medical records of other two revealed early postnatal death due to extreme prematurity.
In the light of this study the incidence of SCID was detected at least 1/10000 live births in Türkiye. This study shows the feasibility and usefulness of initiating SCID screening in Türkiye.
T 细胞受体切除环（TREC）的测量用于对 Guthrie 卡中的干血斑（DBS）样本进行新生儿筛查（NBS），以检测严重联合免疫缺陷（SCID）。在此，我们报告了在土耳其进行的首个 SCID 新生儿筛查试点计划的结果。
该研究由安卡拉大学医学院与卫生部、公共卫生总局儿科和青少年健康司合作开展。对 2018 年 10 月至 2020 年 10 月期间出生的 20253 名婴儿的随机 Guthrie 卡样本进行了 TREC 测量。通过 RT-PCR（实时聚合酶链反应）一起对 TREC 和β肌动蛋白（β-Actin）进行分析。
在最初的分析中，98.6%的新生儿（n：19975）的 TRECs 被发现正常（≥15 拷贝/µl），但 1.4%（n：278）的 TRECs 较低（<15 拷贝/µl）。对 278 名疑似婴儿进行了 TRECs 复测，其中 160 名（0.8%）复测结果正常，118 名（0.58%）复测结果较低。对 TRECs 较低的婴儿（新样本测试）重新采集了新的 DBS。在新样本测试中，108 名（0.53%）婴儿的 TRECs 正常，10 名（0.049%）婴儿的 TRECs 较低。2 名 TRECs 异常（不可检测）的婴儿被诊断为 SCID；分别确认 ADA（P1）和 RAG1（P2）缺陷。他们都接受了治疗[基因治疗（P1）和 HSCT（P2）]。在其余 8 名 TRECs 异常的新生儿中，6 名经临床和实验室免疫检查后结果正常，而另外 2 名的医疗记录显示因极度早产而早期死亡。
根据这项研究，土耳其 SCID 的发病率至少为 1/10000 活产儿。该研究表明在土耳其启动 SCID 筛查是可行且有用的。
