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Objective <p>This study aims to evaluate the clinical management of incidental findings of copy number variations (CNVs) in the DMD gene detected through prenatal single nucleotide polymorphism array (SNP-array).</p> Methods <p>Prenatal SNP-array testing was performed on samples exhibiting CNVs in the DMD locus, followed by parental analysis using the same technique. Additionally, multiplex ligation-dependent probe amplification (MLPA) testing was conducted on prenatal cases and their parents. Pregnancy outcomes were documented, and postnatal follow-up was conducted.</p> Results <p>SNP-array analysis identified copy number variations at Xp21 affecting either the entire DMD gene or only a portion of it in 14 fetuses. In 11 cases, MLPA testing confirmed the presence of deletions or duplications detected by the SNP-array.</p> Conclusion <p>High-density SNP-array platforms with low reporting thresholds may incidentally detect a subset of exon-level copy number variations involving the DMD gene during routine prenatal testing and thereby contribute to early recognition of potential dystrophinopathy-related variants. Suspected DMD-related CNVs, especially exon-level alterations, require confirmation by targeted assays such as MLPA or next-generation sequencing, together with cautious clinical interpretation. Assessing the pathogenicity of prenatally detected DMD copy number variations remains challenging, particularly for duplications, which require careful evaluation. Furthermore, the sequential, time-intensive nature of confirmatory and familial studies often limits definitive risk assessment within the prenatal decision-making window, and introduces broader familial implications that must be navigated through careful, multidisciplinary counseling.</p>

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Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月6日

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  • Jiancheng Hu,
  • Jialun Pang,
  • Rong Hu,
  • Lin Zhou,
  • Wenxian Yu,
  • Hui Xi,
  • Yingchun Luo,
  • Shuting Yang,
  • Wanglan Tang,
  • Ai Hu,
  • Jing Chen,
  • Ying Peng

摘要

Objective

This study aims to evaluate the clinical management of incidental findings of copy number variations (CNVs) in the DMD gene detected through prenatal single nucleotide polymorphism array (SNP-array).

Methods

Prenatal SNP-array testing was performed on samples exhibiting CNVs in the DMD locus, followed by parental analysis using the same technique. Additionally, multiplex ligation-dependent probe amplification (MLPA) testing was conducted on prenatal cases and their parents. Pregnancy outcomes were documented, and postnatal follow-up was conducted.

Results

SNP-array analysis identified copy number variations at Xp21 affecting either the entire DMD gene or only a portion of it in 14 fetuses. In 11 cases, MLPA testing confirmed the presence of deletions or duplications detected by the SNP-array.

Conclusion

High-density SNP-array platforms with low reporting thresholds may incidentally detect a subset of exon-level copy number variations involving the DMD gene during routine prenatal testing and thereby contribute to early recognition of potential dystrophinopathy-related variants. Suspected DMD-related CNVs, especially exon-level alterations, require confirmation by targeted assays such as MLPA or next-generation sequencing, together with cautious clinical interpretation. Assessing the pathogenicity of prenatally detected DMD copy number variations remains challenging, particularly for duplications, which require careful evaluation. Furthermore, the sequential, time-intensive nature of confirmatory and familial studies often limits definitive risk assessment within the prenatal decision-making window, and introduces broader familial implications that must be navigated through careful, multidisciplinary counseling.