Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry

Overview

Journal Front Genet

Date 2020 Jan 11

PMID 31921298

Citations 19

Authors

Yiming Lin

Chien-Hsing Lin

Xiaoshan Yin

Lin Zhu

Jianbin Yang

Yuyan Shen

Chiju Yang

Xigui Chen

Haili Hu

Qingqing Ma

Xueqin Shi

Yaping Shen

Zhenzhen Hu

Chenggang Huang

Xinwen Huang

Affiliations

Soon will be listed here.

Abstract

Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder and the leading genetic cause of infant mortality. Early detection of SMA through newborn screening (NBS) is essential to selecting pre-symptomatic treatment and ensuring optimal outcome, as well as, prompting the urgent need for effective screening methods. This study aimed to determine the feasibility of applying an Agena iPLEX SMA assay in NBS for SMA in China. We developed an Agena iPLEX SMA assay based on the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, and evaluated the performance of this assay through assessment of 167 previously-genotyped samples. Then we conducted a pilot study to apply this assay for SMA NBS. The and copy number of screen-positive patients were determined by multiplex ligation-dependent probe amplification analysis. The sensitivity and specificity of the Agena iPLEX SMA assay were both 100%. Three patients with homozygous deletion were successfully identified and conformed by multiplex ligation-dependent probe amplification analysis. Two patients had two copies, which was correlated with severe SMA type I phenotype; both of them exhibited neurogenic lesion and with decreased muscle power. Another patient with four copies, whose genotype correlated with milder SMA type III or IV phenotype, had normal growth and development without clinical symptoms. The Agena iPLEX SMA assay is an effective and reliable approach for population-based SMA NBS. The first large-scale pilot study using this assay in the Mainland of China showed that large-scale implementation of population-based NBS for SMA is feasible.

Citing Articles

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.

Berzal-Serrano A, Garcia-Bohorquez B, Aller E, Jaijo T, Pitarch-Castellano I, Rausell D Int J Neonatal Screen. 2025; 11(1.

PMID: 39846593 PMC: 11755645. DOI: 10.3390/ijns11010007.

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

Chen C, Zhang C, Wu D, Wang B, Xiao R, Huang X World J Pediatr. 2024; 20(12):1270-1282.

PMID: 39500858 PMC: 11634924. DOI: 10.1007/s12519-024-00846-7.

Subjective Valuation of Screening for Spinal Muscular Atrophy and Analysis of its Influencing Factors: Evidence from Iran.

Khosravi M, Rezapour A, Moradi N, Nassiri Zeidi S, Azadi N Med J Islam Repub Iran. 2024; 38:54.

PMID: 39399599 PMC: 11469703. DOI: 10.47176/mjiri.38.54.

Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening.

Romanelli Tavares V, Mendonca R, Toledo M, Hadachi S, Grindler C, Zanoteli E Genes (Basel). 2024; 15(7).

PMID: 39062637 PMC: 11276409. DOI: 10.3390/genes15070858.

Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy.

Cooper K, Nalbant G, Sutton A, Harnan S, Thokala P, Chilcott J Int J Neonatal Screen. 2024; 10(3).

PMID: 39051405 PMC: 11270196. DOI: 10.3390/ijns10030049.

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