Rapid prenatal CNV detection using nanopore technology
Year: 2026
Type: article
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.
Source: BMC Research Notes
Authors: 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
Institutions: Mahidol University, Ramathibodi Hospital, Siriraj Hospital
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,690
Funder: Mahidol University
OpenAlex ID: W7153845677