Noninvasive Prenatal Testing May Detect Maternal Cancer Interview with:
Prof. Joris Vermeesch
Hoofd Moleculaire Cytogenetica
Coordinator Genomics Core
University of Leuven, University Hospitals Leuven, Belgium

Medical Research: What is the background for this study? What are the main findings?

Dr. Vermeesch: We developed a novel analysis methodology for Noninvasive prenatal testing (NIPT), which not only interrogates the common trisomies, but looks at variations across all chromosomes. We obtain a kind of genome wide copy number variation plot. By applying this analysis method for Noninvasive prenatal testing, we have strict quality parameters. If faulty, we ask for a second sample. In one pregnant woman, the second sample showed exactly the same aberrations as in the first sample. We excluded this variation to be caused by a maternal constitutional chromosomal rearrangement and also excluded this aberration to be from fetal origin. This prompted us to assume a maternal cancer was the cause. Three such cases were observed, all three women were referred to the oncology unit and all three were proven to show a cancer.

Medical Research: What should clinicians and patients take away from your report?

Dr. Vermeesch: Our data suggest that by slight changes in the analysis protocols, a false positive trisomy 21 as a result of the presence of a maternal cancer, can be recognized as such. If such a profile is identified, those women should/could be referred to the oncology unit. In Leuven, women with such a profile are first referred to the geneticist and subsequently to the oncology unit where Prof. Amant is in charge of a unit “cancer during pregnancy”. We consider this finding as an unexpected added benefit of Noninvasive prenatal testing because early cancer detection prompts treatment, even during pregnancy, and improves outcome.

Medical Research: What recommendations do you have for future research as a result of this study?

Dr. Vermeesch: First, we need to establish the sensitivity and specificity on a larger cohort of patients. In our study, we witnessed 3 cases in 4000 pregnancies. Because this is the cancer incidence of women in this age group, we consider the test sensitive. Also, with the parameters we defined, we referred only three women to the oncology unit. Hence the test looks also specific. Nevertheless, we need to determine whether this is also the case in a larger group of patients.

Second, it seems warranted to start pre-symptomatic cancer detection studies in the broader population.


Amant F, Verheecke M, Wlodarska I, et al. Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing. JAMA Oncol. Published online June 05, 2015. doi:10.1001/jamaoncol.2015.1883.


Prof. Joris Vermeesch, Hoofd Moleculaire Cytogenetica, & Coordinator Genomics Core (2015). Noninvasive Prenatal Testing May Detect Maternal Cancer