ArticleWorld journal of pediatrics : WJP2024
Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.
Article in World journal of pediatrics : WJP, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- The cost-benefit of newborn screening for X-linked agammaglobulinemia and related B-cell lymphopenia.Immunologic research · 2026Review
- Nationwide TREC/KREC-based newborn screening and clinical outcomes in Japan.Journal of human immunity · 2026Article
- Implementing calculated globulin screening for immunodeficiencies: The benefits and challenges.Journal of human immunity · 2026Review
- Progress and Prospects of Newborn Screening in China.International journal of neonatal screening · 2026Review
- Optimizing Kappa-Deleting Recombination Excision Circles (KREC) Cut-Off Values in Russian Newborn Screening Program: Balancing Sensitivity and False-Positive Rates.International journal of neonatal screening · 2026Article
- Evolution of Inborn Errors of Immunity in China: Discoveries and Treatment Paradigms.Clinical reviews in allergy & immunology · 2026Review
- Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.European journal of human genetics : EJHG · 2026Article
- Implementation of TREC/KREC Newborn Screening in a High-Birth-Rate Population: A Pilot Study of 5000 Neonates in South Kazakhstan.International journal of neonatal screening · 2026Article
- Pre-symptomatic treatment of spinal muscular atrophy: a strategic shift from concept to clinical practice.World journal of pediatrics : WJP · 2026Article
- Effectiveness and safety of Risdiplam for types 1-3 spinal muscular atrophy in a single center.BMC neurology · 2025Article
- Validation on the First-Tier Fully Automated High-ThroughputInternational journal of neonatal screening · 2025Article
- Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience.International journal of neonatal screening · 2025Article
- Single-dose GC101 gene therapy for spinal muscular atrophy types II and III: an open-label single-arm study.World journal of pediatrics : WJP · 2025Article
- Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort.Journal of clinical laboratory analysis · 2025Article
- A novelFrontiers in genetics · 2025Article
- HemizygousThe application of clinical genetics · 2025Article
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Authors and funding
9 authors.
Funding
Abstract
backgroundNewborn 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.
methodsWe 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.
resultsOf 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.
conclusionThis 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.
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