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<p>Rapid identification of copy-number variations (CNVs) is crucial in prenatal diagnosis; however, current chromosomal microarray analysis (CMA) has a lengthy turnaround time. We evaluated the feasibility of low-pass nanopore sequencing for genome-wide CNV detection using amniotic fluid and umbilical cord blood from 22 samples. Combining the enzymatic reaction step with nanopore sequencing or the nCNV-seq technique achieved complete concordance with CMA across all abnormal and normal cases, accurately detecting CNVs as small as 0.7&#xa0;Mb. The workflow generated &gt; 1&#xa0;million reads per sample, providing sufficient coverage (&lt; 1×) for reliable CNV profiling. These findings demonstrate that nanopore sequencing can serve as an alternative to CMA for rapid testing, potentially lower investment costs, and faster turnaround times.</p>

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Rapid prenatal CNV detection using nanopore technology

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年4月12日

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  • Maolee Bhuwapathanapun,
  • Piya Chaemsaithong,
  • Puntabut Warintaksa,
  • Budsaba Rerkamnuaychoke,
  • Rachanee Parinayok,
  • Takol Chareonsirisuthigul,
  • Suwatcharaporn Hadradchai,
  • Maneerat Prakobpanich,
  • Weerin Thammachote,
  • Natini Jinawath,
  • Tantip Arigul,
  • Pattaraporn Nimsamer,
  • Sopacha Arayamethakorn,
  • Sorawee Kaewkarn,
  • Piroon Jenjaroenpun,
  • Thidathip Wongsurawat

摘要

Rapid identification of copy-number variations (CNVs) is crucial in prenatal diagnosis; however, current chromosomal microarray analysis (CMA) has a lengthy turnaround time. We evaluated the feasibility of low-pass nanopore sequencing for genome-wide CNV detection using amniotic fluid and umbilical cord blood from 22 samples. Combining the enzymatic reaction step with nanopore sequencing or the nCNV-seq technique achieved complete concordance with CMA across all abnormal and normal cases, accurately detecting CNVs as small as 0.7 Mb. The workflow generated > 1 million reads per sample, providing sufficient coverage (< 1×) for reliable CNV profiling. These findings demonstrate that nanopore sequencing can serve as an alternative to CMA for rapid testing, potentially lower investment costs, and faster turnaround times.