Prenatal Diagnostic Testing for Adult-Onset Neurodegenerative Disease.

Area of Science:

• Medical Genetics
• Neuroscience
• Public Health

Background:

• Prenatal diagnostic testing (PND) for adult-onset neurodegenerative diseases (AOND) presents unique ethical and clinical challenges.
• Existing institutional practices and guidelines for AOND PND in the US are not well-documented.

Purpose of the Study:

• To investigate current practices and guidelines for PND for AOND across US healthcare settings.
• To identify consensus, disparities, and needs to determine the necessity of national guidelines.

Main Methods:

• A questionnaire was distributed to professionals via key genetic and maternal-fetal medicine societies.
• Fifty eligible responses from 104 total were analyzed for common themes and practices regarding AOND PND.

Main Results:

• 80% of responding institutions lack formal protocols or written guidelines for AOND PND.
• Key challenges include ethical decision-making, dual disclosure of results, and stakeholder value differences.
• 100% of respondents found national guidelines beneficial.

Conclusions:

• A significant need for national guidelines on PND for AOND exists due to the lack of standardized institutional protocols.
• Identified areas of consensus and uncertainty can inform the development of future national practice guidelines.