Non-invasive prenatal test (NIPT) can trace blood cancers

March 2019 Science Willem van Altena

The non-invasive prenatal test (NIPT) is an effective diagnostic tool to identify haematological cancers, such as Hodgkin’s lymphoma. The test proves to be effective not only in pregnant women, but in everybody. The test involves examining the blood DNA, and can also include material from cancer cells, according to a study that was recently published in Annals of Oncology.

The NIPT is a prenatal blood test that can help to diagnose anomalies in the foetus’ chromosomes, such as Down syndrome. The test involves obtaining a small blood sample from the pregnant woman, that also includes DNA from the foetus.

In the CME (Center for human hereditary diseases) of Leuven’s university hospital, eight pregnant women were diagnosed with cancer based on the results of the NIPT-test. Upon closer inspection, the atypical data from the NIPT-test was not caused by any chromosomal defect in the foetus, but by cancer in the mother.

These findings triggered a much larger scale cancer screening, based on the NIPT-test in the general population. Blood was sampled from over 1,000 persons over the age of 65 by a team led by professor Joris Vermeesch, professor Frederic Amant and doctor Liesbeth Lenaerts. “In a small number of test subjects we found evidence of a haematological cancer”, dr. Lenaerts explains. “In five cases we discovered Hodgkin’s or non-Hodgkin lymphoma. And a sixth person presented a precursor stage to leukaemia. In 24 other test subjects we found genetic anomalies but no cancer. These people will be monitored in order to see whether they will develop cancer or not.”

The notion that NIPT can diagnose cancer was already suggested by smaller-scale studies. The Leuven research now shows that the NIPT can serve as a screening tool for not just pregnant women, but for anyone. Further testing is needed in order to establish whether the NIPT can be used to diagnose haematological cancers at a early stage, and whether the test can be adapted to detect other types of cancer.