Prenatal diagnosis · 2026
Provider Practice and Patient Clinical Follow-Up Among Patients With Spinal Muscular Atrophy (SMA) Linked-Variant.
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Critchlow Elizabeth, Bender Whitney, Riegel Melissa, Dugoff Lorraine
Аннотация
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.
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.