A study by the National Institutes of Health (NIH) has unveiled that nearly half of the expectant mothers exhibiting unusual prenatal cell-free DNA (cfDNA) test outcomes were found to harbor hidden cancers. These cancers, which include colorectal, breast, lung, and pancreatic malignancies, in addition to lymphoma, cholangiocarcinoma, and renal carcinoma, were previously undiagnosed. The prenatal screening evaluates fragments of placental DNA within the mother’s blood to check for chromosomal abnormalities or ascertain the baby’s gender. This research is detailed in the “New England Journal of Medicine.”
In addition to identifying fetal DNA, cfDNA screening can also detect DNA from the mother’s own blood cells and sometimes identifies atypical DNA arising from latent cancers in symptomless pregnant women. The NIH’s IDENTIFY study is delving deeper into understanding how anomalous cfDNA findings might point to potential cancers. For this investigation, the researchers evaluated 107 participants using comprehensive whole-body magnetic resonance imaging (MRI), traditional medical diagnostic methods, and cfDNA sequencing, diagnosing cancer in 52 individuals. Within this group, whole-body MRI emerged as the superior technique for cancer detection, whereas routine diagnostic methods such as medical histories, symptom assessment, and physical exams proved less effective in pinpointing the cancer or its location.
Other unusual cfDNA findings were linked to fibroids (noncancerous growths in the uterus), differences between placental and fetal chromosomes, and clonal hematopoiesis in the mother (a precursor state potentially leading to blood cancers). The investigators highlighted the importance of further studies to verify the cfDNA sequencing indicators that might suggest cancer in this demographic of young, pregnant women who show no evident clinical symptoms.
This research was conducted in partnership with NIH’s National Human Genome Research Institute, National Cancer Institute, and Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
The NICHD is dedicated to advancing research and training to comprehend human growth, elevate reproductive health, enrich the lives of children and adolescents, and maximize abilities for all individuals.
The National Institutes of Health (NIH), recognized as the country’s medical research organization, consists of 27 Institutes and Centers under the U.S. Department of Health and Human Services. As the primary federal entity for conducting and fostering basic, clinical, and translational medical research, NIH is at the forefront of exploring the causes, treatments, and potential cures for both prevalent and uncommon diseases.