A Breakthrough Alongside Prenatal Studies by Non-invasive Prenatal Testing (NIPT): The Prospective Discovery of Maternal Cancers Through the IDENTIFY Study.

A recent prospective study run by the IDENTIFY project at the U.S. National Institutes of Health (NIH) uncovered occult cancers in pregnant or postpartum women who previously received Non-Invasive Prenatal Testing (NIPT) reports of atypical abnormal/ unreportable results that were discordant with the fetal genotype. Among 107/117 patients enrolled who received a full evaluation, 52 (48.6%) had cancers, mostly lymphomas (31/52), colorectal tumors (9/52), and breast cancer (4/52). These results were gathered through standardized research cfDNA sequencing in peripheral blood and a comprehensive cancer screening protocol. Most of these patients (47/52) showed a sequencing pattern in cfDNA of multiple subchromosomal and/or whole gains and losses in multiple chromosomes (≥3). This pattern was interpreted as a high-risk indicator of cancers. Except for whole-body MRI imaging, which was very effective in discovering tumors (49/101 cases), the rest of the cancer screening was not informative. The whole data strengthen the view that NIPT has clinical value for a preliminary identification of pregnant women who may have hidden malignancies and should be referred for a thorough cancer screening. In addition, a uniform follow-up protocol of comprehensive cancer screening allowed the diagnosis of a substantial number of cancers that otherwise would not have been detected. Overall, these results from IDENTIFY, the first via a prospective study, also represent progress in guidelines for improved identification and management of occult malignancies coexisting with pregnancies.