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Updated: Oct 18, 2026
Home-Based Monitor for Gait and Activity Analysis
Published on: August 8, 2019
Provider Practice and Patient Clinical Follow-Up Among Patients With Spinal Muscular Atrophy (SMA) Linked-Variant
Elizabeth Critchlow1, Whitney Bender2, Melissa Riegel1
1Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Background:
The American College of Obstetricians and Gynecologists (ACOG) recommends spinal muscular atrophy (SMA) carrier screening be offered preconception or prenatally. SMA linked-variant incurs an increased but not absolute risk of being a carrier.
Objective:
To describe the patient population, clinical recommendations, and follow-up in a cohort with SMA linked-variant.
Study Design:
This is a retrospective cohort study performed at an urban, academic, tertiary care center of patients with the SMA linked-variant approximately 2017-2021. Descriptive statistics characterize the patient population, provider recommendations, and patient follow-up.
Results:
There were 856 patients, majority Black (94.2%), who tested positive for the SMA linked-variant. There was documentation of result disclosure to patients in only 62.6% of cases. Genetic counseling (88.8%) and partner testing (62.5%) were most often offered. At least one suggested follow-up was completed by 29.1% of patients, with 162 patients (30.2%) receiving genetic counseling and 61 (11.4%) undergoing partner testing.
Conclusion:
Providers documented disclosure of SMA linked-variant results in only 2/3 of cases, and patients completed at least some of the offered clinical follow-up in only 1/3 of cases, both major gaps in care quality. Additional research is needed to understand and improve the suboptimal result review and low rates of patient follow-up.
