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

Abstract

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.