NIPT Detects Presymptomatic Cancers

Sequencing cell-free DNA (cfDNA) from maternal plasma for noninvasive prenatal testing (NIPT) may also enable accurate presymptomatic detection of maternal tumors during pregnancy, according to a brief report published online June 5 in JAMA Oncology.

Large parallel sequencing of cfDNA has been employed to detect copy number variations for both detection of fetal aneuploidy and tumor characterization. The Belgium-based researchers optimized a large parallel sequencing–based NIPT dataset and analysis, to assess common trisomies, as well as genome-wide discrimination of fetal and maternal segmental aneuploidies.

Analysis identified three aberrant genome representation profiles during NIPT assessment in more than 4,000 prospective pregnancies.

The three patients were referred for whole-body diffusionweighted magnetic resonance imaging. An ovarian carcinoma, a follicular lymphoma, and a Hodgkin lymphoma were confirmed with subsequent pathologic and genetic investigations. The authors say the three cancers fall within the “expected” range based on population cancer incidence rates of 1 per 1000 to 2000 person-years in 20- to 40-year-old women.

“Given the current large scale implementation of NIPT to screen for fetal aneuploidies, it is surprising that there are not more reports of maternal cancers presymptomatically revealed by NIPT,” writes lead author Frédéric Amant, M.D., Ph.D., from Katholieke Universiteit Leuven. “One explanation is that current NIPT analyses focus only on deviations of the viable trisomies 13, 18, and 21. However, our observations suggest that slight adaptations to NIPT analysis enabling the interrogation of (segmental) aneuploidies genome-wide could not only avoid false-positive assignment of fetal aneuploidy due to the presence of a maternal cancer but, more importantly, enable identification of the imbalances as cancer-derived anomalies.”