Early ovarian cancer detection in non pregnant women using a clinical non‐invasive prenatal testing platform: Implications for cancer screening

Paul Cohen, N. Flowers, M.D. Pertile, N. Hannan, Stephen Tong, Lisa Hui

Research output: Contribution to journalAbstract/Meeting Abstractpeer-review

4 Citations (Scopus)


Objectives: Maternal malignancy is a rare but important cause of false positive results from cell-free (cf)DNA-based noninvasive prenatal testing (NIPT) for fetal aneuploidy. We investigated the ability of a clinical NIPT platform to detect high grade serous ovarian cancer (HG-SOC) by analysing plasma cfDNA samples from non pregnant women with and without cancer. Methods: In this blinded case-control study, plasma DNA from 32 cases of HG-SOC [16 early stage (FIGO Stage I-II), and 16 advanced stage (FIGO Stage III-IV) cancers] and 32 benign controls were sequenced and analysed for whole chromosome aneuploidy using a routine NIPT pipeline. The results were further analysed for sub chromosomal changes using the WISECONDOR algorithm (Within-Sample COpy Number aberration DetectOR)i; segmental changes > 15Mb were prespecified as abnormal calls. Results: Of the 32 cancer cases, 5 had a "no call" result on the routine NIPT pipeline and one generated a “monosomy 18” result. On WISECONDOR analysis, 13/32 cases had abnormal calls (detection rate 40%, 95% CI 25.5-57.8%), including 6/16 early stage and 7/16 advanced stage cases. Almost all the 13 cancer cases with abnormal calls had multiple segmental changes: the genomic aberrations detected in plasma included common imbalances associated with HG-SOC (3q, 8q, 12p and chr20 gains; 8p, 9p and 17q losses)ii. Two of 32 (6%, 95% CI, -2.1-14.6%) benign controls also had abnormal calls on WISECONDOR analysis. Conclusions: We detected 40% of early and advanced serous ovarian cancers in plasma cfDNA using a clinical NIPT platform and an open source bioinformatics algorithm. While not presently feasible as a stand alone screening test, high throughput plasma DNA sequencing for circulating tumour DNA could be a potential component of a multiple marker strategy for the detection of early ovarian cancer. References i. Straver et al 2013. doi:10.1093/nar/gkt992 ii. Integrated genomic analyses of ovarian carcinoma. doi:10.1038/nature10166
Original languageEnglish
Pages (from-to)E1-E1
Number of pages1
JournalPrenatal Diagnosis
Issue numberS1
Publication statusPublished - 1 Jul 2016
Event20th International Conference on Prenatal Diagnosis and Therapy - Berlin, Germany
Duration: 10 Jul 201613 Jul 2016


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