The National Institutes of Health (NIH) revealed that abnormal prenatal blood test results may point to undiagnosed maternal cancers.
A study titled “Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer” published on the New England Journal of Medicine conducted by researchers at the National Institutes of Health (NIH) found previously undetected cancers in 48.6% of pregnant individuals who had abnormal results on prenatal cell-free DNA (cfDNA) testing, which is commonly used to screen for chromosomal disorders in the fetus. The cancers identified included colorectal, breast, lung, pancreatic cancers, lymphoma, cholangiocarcinoma, and renal carcinoma. This cfDNA screening analyzes placental DNA fragments in the maternal bloodstream to detect chromosomal abnormalities or determine the baby’s sex.
Authors: Amy E. Turriff, Christina M. Annunziata, Ashkan A. Malayeri, Bernadette Redd, Miroslava Pavelova, Ian S. Goldlust, Padma Sheila Rajagopal, Jielu Lin, and Diana W. Bianchi.
The study, published in the New England Journal of Medicine, highlights that, in addition to fetal DNA, cfDNA testing can also detect DNA from the mother’s red blood stem cells and, in some cases, DNA from an undiagnosed cancer in an asymptomatic pregnant person. NIH’s ongoing IDENTIFY study aims to explore the implications of abnormal cfDNA results that could suggest the presence of cancer. In this study, 107 participants underwent whole-body magnetic resonance imaging (MRI), standard diagnostic tests, and cfDNA sequencing. A total of 52 participants were diagnosed with cancer, with whole-body MRI emerging as the most effective tool for detection, outperforming standard medical diagnostic methods like medical history, symptom assessment, and physical exams.
Some of the abnormal cfDNA results were found to be due to non-cancerous conditions such as fibroids, placental chromosome differences from fetal chromosomes, and clonal hematopoiesis in the mother, a precursor to blood cancers. The researchers emphasized the need for further studies to confirm the patterns observed in cfDNA sequencing and their potential to identify cancer in this unique population of young, pregnant individuals without obvious clinical symptoms.
The study involved researchers from NIH’s National Human Genome Research Institute, National Cancer Institute, and Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
About the Author of the Study Diana W. Bianchi
Dr. Diana W. Bianchi is the Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), where she leads groundbreaking research in pediatric health, maternal and reproductive health, and intellectual and developmental disabilities. She has been with NICHD since 2016, where she has led the development of the NICHD Strategic Plan, outlining key research goals for the institute. She also oversaw the creation of the institute’s new vision and mission statements, which reflect the overarching goals of improving reproductive health, enhancing the lives of children and adolescents, and optimizing abilities for all.
Dr. Bianchi is a recognized medical geneticist with expertise in reproductive genomics and prenatal diagnostics. She has published more than 370 peer-reviewed articles and is a co-author of the influential textbook Fetology: Diagnosis and Management of the Fetal Patient. Her work has focused on advancing noninvasive prenatal DNA screening and exploring the fetal transcriptome to develop new therapies for genetic disorders. She leads a research lab at the National Human Genome Research Institute, contributing to the field of precision health research.
Throughout her career, Dr. Bianchi has received numerous prestigious awards, including the Pioneer Award from the International Society for Prenatal Diagnosis and the Forbes 50 over 50 award. She was elected to the National Academy of Medicine in 2013 for her contributions to prenatal diagnostics and fetal cell microchimerism. Dr. Bianchi’s commitment to mentoring the next generation of clinician-scientists has also earned her recognition, including the Maureen Andrew Award for Mentoring. Her work continues to make significant strides in advancing genetic research and improving maternal and fetal health.
The National Institutes of Health (NIH)
The National Institutes of Health (NIH) is the leading agency of the U.S. government responsible for conducting and funding biomedical and public health research. Established in 1887, it operates under the Department of Health and Human Services. NIH’s headquarters are located in Bethesda, Maryland, with additional facilities in Research Triangle Park (North Carolina) and other locations across the U.S. The NIH is known for its significant contributions to scientific advancements, funding groundbreaking medical research, and its ongoing work to improve public health.
The NIH’s Intramural Research Program (IRP) conducts cutting-edge scientific research internally, employing over 1,200 principal investigators and 4,000 postdoctoral fellows. As the world’s largest biomedical research institution, the NIH makes significant strides in basic, translational, and clinical research. In addition, the Extramural Research Program provides substantial funding to academic institutions, hospitals, and research organizations outside of NIH. In 2003, the extramural program contributed approximately $26.4 billion annually to the U.S. biomedical research sector.
The NIH comprises 27 institutes and centers, each dedicated to specific areas of biomedical science. These institutes have been instrumental in groundbreaking discoveries, such as the development of vaccines for HPV, hepatitis, and HIB, and the discovery of fluoride’s role in preventing tooth decay. The NIH’s reputation for excellence is reflected in its rank as the second-largest contributor to biomedical publications worldwide, according to the Nature Index of 2019. Through its vast research efforts and funding, the NIH continues to be a critical leader in advancing global health and scientific knowledge.