Prenatal Diagnostic Testing for Adult-Onset Neurodegenerative Disease.

OBJECTIVE

This study investigated existing practices and institutional guidelines on prenatal diagnostic testing (PND) for adult-onset neurodegenerative disease (AOND) to identify points of consensus, disparities, and areas of need in healthcare settings across the United States (US) to better understand if national guidelines are needed.

METHODS

A questionnaire about institutional practices and guidelines on PND for AOND was distributed through the National Society of Genetic Counselors, Society for Maternal-Fetal Medicine, and Huntington's Disease Society of America Centers of Excellence. Of 104 responses, 50 met eligibility criteria and were analyzed for commonalities and shared themes.

RESULTS

Of those who provided responses, 80% reported that their institution does not have a formal protocol or written guidelines on PND for AOND. Challenges to PND for AOND included ethical decision making after a positive genetic result, double disclosure of fetal and parental status, and differing values among relevant stakeholders. Of those who provided responses, 100% indicated that national guidelines would be beneficial.

CONCLUSION

This study helps establish the need for national guidelines on PND for AOND given that most institutions surveyed do not have standardized protocols. Points of consensus and shared areas of uncertainty may serve as starting points for the formation of national practice guidelines.