A new study reveals that fetal DNA test of fetuses may lead to an early detection of cancers in their mothers.
NIPT is usually done to determine if the fetus has any DNA abnormalities, which can lead to Down’s syndrome or other genetic problems. The testing requires analysis of fetal DNA found in the blood of the mothers. As it is non-invasive, it does not carry the risk of miscarriages.
The study results were presented in the annual conference of the European Society of Human Genetics 2015. The study was simultaneously published in JAMA Oncology.
A team of Belgian researchers started out with the aim of trying to improve the accuracy of Non-Invasive Pre-natal Testing so it could be able to detect a larger number of fetal chromosomal aberrations. They primarily wanted to tackle technical problems, which lead to false positives or false negatives in screening of chromosomal anomalies, and to improve the efficacy of the NIPT.
But when they tested the new version, they were surprised to find three different genetic anomalies in 3 out of the 6,000 women tested. The genetic profiling of both the mothers and the fetuses couldn’t account for these anomalies.
The scientists found that the chromosomal anomalies bore a resemblance to those found in cancer. Upon referral to oncologists, it was discovered that all three women had three different types of early stages of cancer: Hodgkin’s lymphoma, follicular lymphoma and ovarian cancer.
Although the incidence rate was normal in this population (one per 1000-2000 persons in women aged 20-40 years), without the non-invasive pre-natal testing these cancers would have most likely escaped detection until they became symptomatic and advanced.
Jorris Veersmeech, principal investigator and head of the Laboratory for Cytogenetics and Genome research at Leuven University in Belgium, said at a press release that this was an important advantage of NIPT considering the bad prognosis of late detected cancers. He added, “During pregnancy, cancer related symptoms can be masked. Symptoms such as fatigue, nausea, abdominal pain can be easily interpretable as a normal part of pregnancy. NIPT can allow us to overcome the challenge of early diagnosis in pregnant women.”
Two of the women diagnosed with the cancers underwent treatment whereas the third did not require treatment at this stage. She had an indolent disease not considered to be in need of treatment.
Follow up treatments in the treated women proved another point in NIPT’s favor as it could allow monitoring of effectiveness of the treatment. The investigators were able to see the normalization of the chromosomal profiles during and after chemotherapy in the treated women.
Nathalie Brison, PhD, a senior scientist in the Clinical Cytogenetics laboratory at the Center for Human Genetics, said that normalization of the NIPT profile after treatment was indicative that response to treatment could be measured after the first dose of chemotherapy. The results were suggestive of the fact that NIPT could detect pre-symptomatic cancers in not only pregnant women but in a much wider population.
“We know it is possible to offer the accurate detection of chromosomally imbalanced cancers to the general population via minimally invasive screening methods. For further validation of these results, larger scale studies will be required but we are confident we have made an important step towards the possibilities of wide-scale, effective, non-invasive cancer screening capable of detecting diseases at an early stage,” Dr Brison added.