Scientists from UZ Leaven in Belgium have discovered another use for non-invasive prenatal testing besides testing for fetal abnormalities. It could potentially be used as an effective and non-invasive cancer screening tool.

Non-invasive prenatal testing (NIPT) is a blood test that screens for possible abnormalities in a developing fetus. The fetus’s DNA is examined to determine its risk of developing conditions like Down syndrome or trisomy 13. It is also used to determine the baby’s sex and Rhesus blood type. Because NIPT involves examining fetal DNA in the mother’s blood, it does not have the same risk of miscarriage that is present in invasive tests.

 Chromosome map of a patient with Down syndrome (trisomy 21)

Image Source: Lester V. Bergman

The newly discovered ability of NIPT to detect maternal cancer in its early stages was found when Nathalie Brison, PhD, a senior scientist in the Clinical Cytogenetics laboratory at the Centre for Human Genetics at UZ Leaven, and her team set out to improve the accuracy of NIPT to reduce the number of false positive and false negative results that appear during testing for chromosomal disorders.

“Even though it is very reliable, we believed that we could make it even better, and in doing so we could also find other chromosomal abnormalities apart from the traditional trisomy syndromes – Down’s, Edward’s (trisomy 18), and Patau (trisomy 13).”

– Nathalie Brison

After using the new test in over 6,000 pregnancies, Brison’s team identified three different genetic abnormalities in three women that were unrelated to either the mother’s or the fetus’ genome. They determined that the abnormalities resembled those present in cancer and sent the women to the oncology department. After examining the women using full-body MRI scans and pathological and genetic testing, the researchers found that each of the women had three different early-stage cancers: ovarian carcinoma, follicular lymphoma, and Hodgkin’s lymphoma. None of the women had begun showing any symptoms. NIPT made it possible for these cancers to be detected far earlier than they would have been otherwise.

Professor Joris Vermeesch, Head of the Laboratory for Cytogenetics and Genome Research at UZ Leuven and principal investigator of the study, pointed out pregnancy can sometimes hide cancer symptoms.

“During pregnancy, cancer-related symptoms may well be masked; fatigue, nausea, abdominal pain, and vaginal blood loss are easily interpretable as a normal part of being pregnant. NIPT offers an opportunity for the accurate screening of high risk women for cancer, allowing us to overcome the challenge of early diagnosis in pregnant women.”

– Joris Vermeesch

Based on the results of this study, NIPT could aid in the detection of early-stage cancers in not only pregnant women, but other people as well. Further research is necessary, but this discovery highlights the possibility of non-invasive screenings for early-stage cancer on a wider scale in the future.

Feature Image Source: Pregnant by Jerry Lai

Karina Kak

Author Karina Kak

UCSD alumnus. LinkedIn

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