Rapid prenatal CNV detection using nanopore technology
1
Issued Date
2026-12-01
Resource Type
eISSN
17560500
Scopus ID
2-s2.0-105039599624
Journal Title
BMC Research Notes
Volume
19
Issue
1
Rights Holder(s)
SCOPUS
Bibliographic Citation
BMC Research Notes Vol.19 No.1 (2026)
Suggested Citation
Bhuwapathanapun M., Chaemsaithong P., Warintaksa P., Rerkamnuaychoke B., Parinayok R., Chareonsirisuthigul T., Hadradchai S., Prakobpanich M., Thammachote W., Jinawath N., Arigul T., Nimsamer P., Arayamethakorn S., Kaewkarn S., Jenjaroenpun P., Wongsurawat T. Rapid prenatal CNV detection using nanopore technology. BMC Research Notes Vol.19 No.1 (2026). doi:10.1186/s13104-026-07818-2 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/116982
Title
Rapid prenatal CNV detection using nanopore technology
Author's Affiliation
Corresponding Author(s)
Other Contributor(s)
Abstract
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.