Spinal Muscular Atrophy Carrier Screening: Assessment of Provider Knowledge and Clinical Practice.

Area of Science:

• Genetics
• Reproductive Medicine
• Medical Education

Background:

• The American College of Obstetricians and Gynecologists (ACOG) recommends spinal muscular atrophy (SMA) carrier screening (CS).
• Provider knowledge and comfort are crucial for effective implementation of SMA CS.

Purpose of the Study:

• To assess prenatal provider knowledge of SMA.
• To evaluate SMA CS practice patterns.
• To examine the relationship between provider knowledge and comfort in discussing SMA screening.

Main Methods:

• Anonymous web-based survey distributed to prenatal providers.
• Assessment of SMA knowledge, CS practices, and comfort levels.
• Statistical analysis of knowledge, comfort, role, and experience.

Main Results:

• High uptake of SMA CS (91.3%) but low provider knowledge (mean score 47.5%).
• Less than 25% of providers reported complete comfort discussing screening and results.
• Provider comfort correlated with role and experience, and higher knowledge scores.

Conclusions:

• Despite ACOG recommendations, significant gaps exist in provider knowledge of SMA.
• Most providers lack comfort in discussing SMA screening and results, impacting patient counseling.
• Further education is needed to improve provider confidence and optimize SMA CS delivery.