Prenatal cfDNA screening results indicative of maternal neoplasm: survey of current practice and management needs

Objective To determine genetic counselors' current practices and management needs for patients with prenatal cfDNA screening results indicative of maternal neoplasm. Methods A survey was completed by genetic counselors recruited via the National Society of Genetic Counselors (NSGC). Results Over 300 genetic counselors were surveyed. Almost all participants (95%) were aware that Noninvasive Prenatal Testing (NIPT) results may suggest maternal neoplasm, and 77% reported they would disclose such results. However, only 29% routinely communicate this possibility to patients in a pre‐test setting. Management recommendations made by counselors were highly variable, and over half (51.8%) stated they would feel uncomfortable or very uncomfortable counseling a patient with these results. While less than half (44.3%) believed the current benefits of NIPT's ability to suggest maternal neoplasm outweigh its potential harms, 80.2% recognized it would be beneficial in the future. A vast majority of counselors (91.3%) felt institutional or national guidelines were needed for patient management. Conclusion A majority of counselors neither felt properly equipped nor comfortable counseling patients with prenatal cfDNA results suggestive of maternal neoplasm. This study demonstrates a need for collaboration amongst clinicians, researchers, and laboratories to publish data regarding NIPT results indicative of maternal neoplasm, and for the creation of management guidelines. © 2016 John Wiley & Sons, Ltd. WHAT'S ALREADY KNOWN ABOUT THIS TOPIC? Cell‐free DNA is produced by both placental and tumor cells. Prenatal cell‐free DNA screening has incidentally been found to detect maternal neoplasm. WHAT DOES THIS STUDY ADD? This study demonstrates that a consensus is needed regarding the reporting of prenatal cfDNA results indicative of maternal neoplasm. Guidance is needed for the management of patients with prenatal cfDNA results indicative of maternal neoplasm.