“The NIH IDENTIFY Study: A Prospective Evaluation of Pregnant Women with Prenatal cfDNA Sequencing Results That Suggest Maternal Malignancy” ASHG Plenary Presentation

Diana Bianchi, MD

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.

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