Early-stage cancers may be detected with noninvasive prenatal testing

7 Jun

Noninvasive prenatal testing is a screening technique used to detect Down syndrome and other conditions involving chromosomal abnormalities in a developing fetus. But there may be another use for the test; a new study finds it could detect early-stage maternal cancers.
A pregnant woman having a blood test
Researchers identified three different early-stage cancers in three pregnant women using noninvasive prenatal testing.

Nathalie Brison, PhD, of the Centre for Human Genetics at UZ Leuven in Belgium, and colleagues recently presented their findings – which are published in JAMA Oncology – at the European Society of Human Genetics annual conference.

Noninvasive prenatal testing (NIPT) works by assessing fetal DNA within an expectant mother’s bloodstream to determine whether any extra chromosomes are present that may put the baby at risk of Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) or Patau syndrome (trisomy 13).

Currently, NIPT is only offered to pregnant women who have certain risk factors that mean they may be unable to undergo invasive prenatal testing methods, or who are at high risk of having a baby with a chromosomal condition.

Originally, Dr. Brison and colleagues conducted their study with the aim of improving the accuracy of NIPT.

“Even though it is very reliable, we believed that we could make it even better,” explains Dr. Brison, “and in doing so we could also find other chromosomal abnormalities apart from the traditional trisomy syndromes – Down, Edwards, and Patau.”

However, by analyzing more than 6,000 pregnant women using an adapted version of NIPT, the team instead identified three genomic abnormalities in three of the women that they could not link to maternal or fetal profiles.

“We realized that the abnormalities bore a resemblance to those found in cancer, and referred the women to the oncology unit,” says Dr. Brison.

Genomic abnormalities indicative of three different early-stage cancers

The three women underwent whole body magnetic resonance imaging (MRI), as well as other genetic assessments.

As a result, each of these women were found to be in the early stages of three different cancers: ovarian cancer, follicular lymphoma and Hodgkin lymphoma.

The woman in whom follicular lymphoma was identified was found to have inactive cancer, so no treatment was required. Chemotherapy was given to the other two women, however, with one being treated during pregnancy. She subsequently gave birth to a healthy baby girl.

Follow-up assessments in the women who underwent chemotherapy allowed the researchers to monitor the effectiveness of treatment, which showed that during and after chemotherapy, the genomic profiles of the women returned to normal.

The researchers note that the identification of these cancers in three out of the more than 6,000 women assessed is in line with what is expected within the general population – 1 in every 1,000-2,000 person years among women aged 20-40.

However, the team points out that without the use of NIPT, the cancers found in the three women would likely have been diagnosed at a much later stage, when they eventually started triggering symptoms, suggesting that NIPT may be a useful tool for detecting early-stage maternal cancers.

Principal investigator Prof. Joris Vermeesch, head of the Laboratory for Cytogenetics and Genome Research at UZ Leuven, says:

“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.”

Not only could NIPT be effective for identifying early-stage cancers among expectant mothers, Dr. Brison says it could also be effective among the wider population.

“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,” she says. “The normalization 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.”

Dr. Brison notes that while further studies are needed to validate their findings, they are confident that they are a big step closer to an effective, noninvasive diagnostic technique for early-stage cancers.

Medical News Today recently reported on a study in which researchers have uncovered a blood biomarker that they say could form the basis of a blood test for early detection of lung cancer.

Written by Honor Whiteman