Non-invasive prenatal testing (NIPT) to look for chromosomal fetal disorders is increasingly used to test for conditions like Down’s syndrome. NIPT allows the examination of fetal DNA without any risk for both the baby and the mother. Now, researchers have discovered another possible advantage of NIPT: it can detect cancers such as Hodgkin’s lymphoma, follicular lymphoma and ovarian carcinoma in the mother at an early stage, even before symptoms actually appear. The study was published in JAMA Oncology.
Nathalie Brison from the Centre for Human Genetics, Leuven, Belgium,wanted to assess trisomy 21, Edward’s (trisomy 18), and Patau (trisomy 13) through NIPT. However, further studies showed her and her team “three different genomic abnormalities in three women that could not be linked to either the maternal or fetal genomic profile. [They] realized that the abnormalities bore a resemblance to those found in cancer, and referred the women to the oncology unit,” Dr. Brison explained in a press release.
Whole body MRI scanning plus pathological and genetic assessments showed the existence of 3 different early stage cancers in those women: Hodgkin’s lymphoma, follicular lymphoma and ovarian carcinoma. Without NIPT these cancers would probably go unnoticed until they became symptomatic and evolved into more advanced stages.
Joris Vermeesch, PI from the Head of the Laboratory for Cytogenetics and Genome Research at Leuven, added: “Considering the bad prognosis of some cancers when detected later, and given that we know that it is both possible and safe to treat the disease during pregnancy, this is an important added advantage of NIPT. 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.”
Additional chromosomes to 13, 18 and 21 were investigated, so women could be informed about the chances of other unpredicted findings. “However, our study feeds into the ethical debate about whether or not to report incidental findings to patients, and also has implications for the current political discussions concerning reimbursement and funding of NIPT by national health care systems,” explained Prof Vermeesch.
The results suggested that NIPT can detect pre-symptomatic cancers more widely and not only in pregnant women. “We now know that it is possible to offer the accurate detection of chromosomally imbalanced cancers to the general population via minimally invasive screening methods. The normalisation of the NIPT profile in these patients following treatment indicates that we can also measure response to treatment as early as after the first administration of chemotherapy. Of course, larger scale studies will be required to validate these results further, but we are confident that we have made an important step towards the possibility of wide-scale, effective, non-invasive cancer screening capable of detecting disease at an early stage,” concluded Brison.