Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.

IF 6.1 2区 医学 Q1 PEDIATRICS
Chi Chen, Chao Zhang, Ding-Wen Wu, Bing-Yi Wang, Rui Xiao, Xiao-Lei Huang, Xin Yang, Zhi-Gang Gao, Ru-Lai Yang
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引用次数: 0

Abstract

Background: Newborn screening (NBS) for severe combined immunodeficiency (SCID), X-linked agammaglobulinemia (XLA), and spinal muscular atrophy (SMA) enables early diagnosis and intervention, significantly improving patient outcomes. Advances in real-time polymerase chain reaction (PCR) technology have been instrumental in facilitating their inclusion in NBS programs.

Methods: We employed multiplex real-time PCR to simultaneously detect T-cell receptor excision circles (TRECs), kappa-deleting recombination excision circles (KRECs), and the absence of the survival motor neuron (SMN) 1 gene in dried blood spots from 103,240 newborns in Zhejiang Province, China, between July 2021 and December 2022.

Results: Of all the samples, 122 were requested further evaluation. After flow cytometry evaluation and/or genetic diagnostics, we identified one patient with SCID, two patients with XLA, nine patients with SMA [one of whom also had Wiskott-Aldrich Syndrome (WAS)], and eight patients with other medical conditions. The positive predictive values (PPVs) of NBS for SCID, XLA, and SMA were 2.44%, 2.78%, and 100%, respectively. The estimated prevalence rates in the Chinese population were 1 in 103,240 for SCID, 1 in 51,620 for XLA, and 1 in 11,471 for SMA.

Conclusion: This study represents the first large-scale screening in mainland China using a TREC/KREC/SMN1 multiplex assay, providing valuable epidemiological data. Our findings suggest that this multiplex assay is an effective screening method for SCID, XLA, and SMA, potentially supporting the universal implementation of NBS programs across China.

新生儿重症联合免疫缺陷、X 连锁丙种球蛋白血症和脊髓性肌萎缩症的全面筛查:中国经验。
背景:新生儿筛查(NBS)可筛查重症联合免疫缺陷病(SCID)、X-连锁丙种球蛋白血症(XLA)和脊髓性肌萎缩症(SMA),从而实现早期诊断和干预,显著改善患者的预后。实时聚合酶链反应(PCR)技术的进步有助于将这些疾病纳入 NBS 计划:我们采用多重实时 PCR 技术同时检测了 2021 年 7 月至 2022 年 12 月期间浙江省 103,240 名新生儿干血斑中的 T 细胞受体切割圈(TRECs)、卡帕缺失重组切割圈(KRECs)和存活运动神经元(SMN)1 基因缺失:结果:在所有样本中,122 份样本被要求进行进一步评估。经过流式细胞术评估和/或基因诊断,我们确定了 1 名 SCID 患者、2 名 XLA 患者、9 名 SMA 患者(其中 1 名同时患有威斯科特-阿尔德里奇综合征(WAS))和 8 名其他疾病患者。NBS对SCID、XLA和SMA的阳性预测值(PPV)分别为2.44%、2.78%和100%。SCID、XLA和SMA在中国人群中的患病率分别为1/103,240、1/51,620和1/11,471:本研究是中国大陆首次使用 TREC/KREC/SMN1 多重检测法进行的大规模筛查,提供了宝贵的流行病学数据。我们的研究结果表明,这种多重检测方法是筛查SCID、XLA和SMA的有效方法,可为在中国普及NBS项目提供支持。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
World Journal of Pediatrics
World Journal of Pediatrics 医学-小儿科
CiteScore
10.50
自引率
1.10%
发文量
592
审稿时长
2.5 months
期刊介绍: The World Journal of Pediatrics, a monthly publication, is dedicated to disseminating peer-reviewed original papers, reviews, and special reports focusing on clinical practice and research in pediatrics. We welcome contributions from pediatricians worldwide on new developments across all areas of pediatrics, including pediatric surgery, preventive healthcare, pharmacology, stomatology, and biomedicine. The journal also covers basic sciences and experimental work, serving as a comprehensive academic platform for the international exchange of medical findings.
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