05 Dec NEJM: Prenatal cell-free DNA Can Detect Occult Maternal Cancer

MedicalResearch.com Interview with:

Dr. Bianchi

Diana W. Bianchi, M.D.
Senior Investigator
Center for Precision Health Research
Director,
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institutes of Health

MedicalResearch.com: What is the background for this study?

Response: The ability of prenatal cell-free DNA (cfDNA) sequencing to incidentally detect maternal cancers has been demonstrated by several retrospective studies from commercial or national laboratories. However, there are no standardized approaches to the identification and medical management of prenatal screening results that might indicate a maternal cancer. We sought to prospectively identify DNA sequencing patterns and other biomarkers that could distinguish which women with nonreportable or unusual cfDNA sequencing results had cancer and to determine the best approach for diagnostic work-up of pregnant people who receive these results.

MedicalResearch.com: What are the main findings?

Response:  Cancer was detected in nearly half (48.6%) of our participants, most of whom were asymptomatic or had minimal symptoms that had been ascribed to pregnancy. We identified six different sequencing patterns in our participants. Sequencing results that showed a combination of chromosomal gains and losses involving at least three chromosomes were associated with the highest risk for cancer. Cancer was present in 95.9% of participants with this sequencing pattern. Whole-body MRI was the most effective clinical test for detecting cancer. Laboratory tests, physical examination, and participant-reported symptoms could not accurately distinguish which participants had cancer.

MedicalResearch.com: What type of cancers were detected?

Response:  Lymphoma was the most frequently detected cancer, followed by colorectal cancer. However, several rare and unexpected cancers in young people, such as adrenocortical carcinoma, pancreatic cancer, and lung cancer were also detected.

MedicalResearch.com: Are there wider implications for this testing in other patient populations?

Response:  Our study was not designed to evaluate the ability of cell-free DNA sequencing using a fetal aneuploidy platform to screen for cancer in the general population. However, our results demonstrate the ability of cell-free DNA sequencing to detect cancers in asymptomatic people. The use of different cell-free DNA sequencing platforms to screen for preclinical cancers in the general population (known as multi-cancer early detection tests) or to monitor treatment responses and disease recurrence in individuals with cancer are an active area of research.

MedicalResearch.com: What should readers take away from your report?

Response: Prenatal screening results that are suggestive of a maternal cancer should not be ignored. Sequencing results showing a combination of chromosomal gains and losses warrant prompt cancer screening that includes whole-body MRI. Laboratory tests and physical examination should not be relied on to decide which patients should undergo imaging. Most of our participants had normal physical examinations

MedicalResearch.com: What recommendations do you have for future research as a results of this study?

Response: We continue to enroll participants in the IDENTIFY study and aim to prospectively validate the sequencing patterns that were established in our initial cohort. We are investigating other noninvasive biomarkers of cancer and hope to not only distinguish which people have cancer, but also to predict what type of cancer they might have.

MedicalResearch.com: Is there anything else you would like to add? Any disclosures?

Response: For the results of our study to be effectively implemented into clinical care, pregnant people need access to whole-body imaging, which currently is not covered by most insurance companies, especially when a person is asymptomatic. We hope our prospectively obtained data will be used to develop consensus guidelines for care. We also need improved coordination among specialties and hope that oncologists will begin to play a more prominent role in the evaluation and management of these cases.

We have no disclosures.

Citation:

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Last Updated on December 5, 2024 by Marie Benz MD FAAD