ASHG Abstract Presented by Diana Bianchi, MD, National Human Genome Research Institute, Bethesda, MD
The following is a report of a significant abstract released on Saturday, November 4, during the Annual American Association of Human Genetics meeting (ASHG 2023), being held in Washington, DC, November 1-5.
Researchers have found that cancer may be the reason behind non-reportable or atypical non-invasive prenatal test (NIPT) results among asymptomatic pregnant or postpartum women. Therefore, those who receive such results should have a timely and thorough clinical evaluation. Lymphomas were the most common type of cancer found, followed by colorectal cancer, though other rare tumors were also detected. These findings emerged from an ongoing prospective study called IDENTIFY (Incidental Detection of Maternal Neoplasia Through Non-Invasive Cell-Free DNA Analysis), conducted by the National Institutes of Health (NIH) Clinical Center.
Among 80 individuals enrolled in the study between December 2019 and June 2023, over 50% had a malignancy diagnosed at their initial evaluation, which included whole-body magnetic resonance imaging (MRI). The research team hypothesized that detecting malignancies before symptoms develop will improve the long-term health of these individuals and extend their lives.
– A complete cancer evaluation conducted at the NIH Clinical Center includes history and physical examination, whole-body MRI, a second NIPT test using a common genome-wide platform, fecal occult blood test, pap/HPV rest, and hematological and biochemical laboratory tests. If available, placentas were also analyzed.
– The findings suggest the importance of following up on atypical NIPT results with an MRI, which is required to detect malignancies in this asymptomatic group.
– Eligible participants can be either pregnant or up to two years postpartum and are asymptomatic. NIPT analyzes the free-floating, cell-free (cf) DNA found in the mother’s bloodstream, which represents a combination of fetal and maternal blood.
– In nearly 75% of the cases, participants received either nonreportable or atypical results. The other 25% had one or more reported abnormalities.