biostudies-literatureNakabayashi MJapan Society for the Promotion of Science (JSPS)Japan Society for the Promotion of Science11205https://www.ebi.ac.uk/biostudies/studies/S-EPMC6060170biostudies-literatureUnknown8(1)The discovery of circulating tumour DNA molecules created a paradigm shift in tumour biomarkers as predictors of recurrence. Non-invasive prenatal testing (NIPT) to detect circulating cell-free foetal DNA in maternal plasma is increasingly recognised as a valuable substitute to perceive foetal copy number variation (CNV). This study aimed to determine whether the copy number detection in plasma samples using NIPT platform could be used as a prognostic biomarker in patients with gynaecological cancer. We conducted a prospective study using samples containing preoperative plasma from 100 women with gynaecological cancers. Samples were randomly rearranged and blindly sequenced using a low-coverage whole-genome sequencing plasma DNA, NIPT platform. The NIPT pipeline identified copy number alteScientific reportsMassively parallel sequencing of cell-free DNA in plasma for detecting gynaecological tumour-associated copy number alteration.PMC6060170JP15K15612JP17K16311JP16K20211Miyamoto SIizuka CNakabayashi MSekizawa AKawashima AYasuhara RHayakawa YfalseMassively parallel sequencing of cell-free DNA in plasma for detecting gynaecological tumour-associated copy number alteration.The discovery of circulating tumour DNA molecules created a paradigm shift in tumour biomarkers as predictors of recurrence. Non-invasive prenatal testing (NIPT) to detect circulating cell-free foetal DNA in maternal plasma is increasingly recognised as a valuable substitute to perceive foetal copy number variation (CNV). This study aimed to determine whether the copy number detection in plasma samples using NIPT platform could be used as a prognostic biomarker in patients with gynaecological cancer. We conducted a prospective study using samples containing preoperative plasma from 100 women with gynaecological cancers. Samples were randomly rearranged and blindly sequenced using a low-coverage whole-genome sequencing plasma DNA, NIPT platform. The NIPT pipeline identified copy number alte2018-01-01T00:00:00Z2018 Jul2025-04-19T17:56:10.61Z2019-03-27T00:03:42ZS-EPMC60601703004604010.1038/s41598-018-29381-y