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Noninvasive prenatal testing may detect presymptomatic cancers in pregnant women
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Maternal plasma cell-free DNA sequencing for noninvasive prenatal testing could lead to the detection of presymptomatic maternal tumors and treatment during pregnancy, according to a case report published in JAMA Oncology.
Noninvasive prenatal testing for fetal aneuploidy — conducted by scanning cell-free fetal DNA in maternal plasma — is becoming a standard prenatal genetic test, according to study background. Like placental DNA, tumor DNA can be detected in plasma and analyzing cell-free tumor DNA can be used to characterize and track cancers.
Joris Robert Vermeesch, PhD, professor of molecular cytogenetics and genome research at the Center for Human Genetics in Leuven, Belgium, and colleagues performed noninvasive prenatal testing by parallel sequencing of maternal plasma cell-free DNA in over 4,000 women who were pregnant. Using these data, researchers observed three aberrant genome representation profiles.
The researchers referred the three pregnant women with suspected cancers for whole-body diffusion-weighted MRI.
Imaging confirmed the noninvasive prenatal testing hypotheses and resulted in diagnoses of ovarian carcinoma (Patient 1), follicular lymphoma (Patient 2) and Hodgkin’s lymphoma (Patient 3).
Patient 3 underwent treatment without complications while pregnant. Patient 1 deferred treatment until after delivery. Patient 2 deferred treatment for her slow-growing malignancy, which did not require immediate treatment.
The researchers acknowledged the small sample size as a limitation of their findings.
“Maternal plasma cell-free DNA sequencing for the purpose of noninvasive prenatal testing may enable the accurate presymptomatic detection of maternal tumors and treatment during pregnancy,” Vermeesch and colleagues concluded. “However, the detection of cancer by genomic profiling need not be limited to pregnant women and additional research on a large scale seems warranted.” – by Cameron Kelsall
Disclosure: Vermeesch reports a leadership role and stock ownership in Cartegenia. The other researchers report no relevant financial disclosures.
Perspective
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Mary Daly, MD, PhD
This is an interesting article. The use of plasma-derived DNA — as opposed to cell-derived DNA — is a field of active investigation as a way to detect tumors early, or to monitor treatment. It’s similar to the circulating tumor cell story.
It has some limitations. Detection of the DNA in plasma is very dependent on how much DNA is in the plasma, which is a market of tumor burden. It is most successful when there is widespread disease, so its promise as a marker of early-stage cancer is limited with current technology. You will notice in the article that in all three cases the cancers were widespread, so I question the use of the word “presymptomatic” in the title. Also, there are problems with degradation of the DNA in plasma, so sensitivity can be a problem. To my knowledge, this is not something being used clinically at this time.
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