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World Journal of Pediatrics

Open Access 05-11-2024 | Spinal Muscular Atrophy | Original Article

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

Authors: Chi Chen, Chao Zhang, Ding-Wen Wu, Bing-Yi Wang, Rui Xiao, Xiao-Lei Huang, Xin Yang, Zhi-Gang Gao, Ru-Lai Yang

Published in: World Journal of Pediatrics

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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.

Graphical abstract

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Metadata
Title
Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience
Authors
Chi Chen
Chao Zhang
Ding-Wen Wu
Bing-Yi Wang
Rui Xiao
Xiao-Lei Huang
Xin Yang
Zhi-Gang Gao
Ru-Lai Yang
Publication date
05-11-2024
Publisher
Springer Nature Singapore
Published in
World Journal of Pediatrics
Print ISSN: 1708-8569
Electronic ISSN: 1867-0687
DOI
https://doi.org/10.1007/s12519-024-00846-7

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