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Carrier Screening for Spinal Muscular Atrophy Among U.S. In Vitro Fertilization Patients [289]

INTRODUCTION: Spinal muscular atrophy is a recessive neuromuscular disorder that typically causes muscle weakness, loss of voluntary muscle control, and death by age 2 years. Spinal muscular atrophy is caused by defects in the SMN1 gene. The American College of Medical Genetics and Genomics recommends that carrier screening for spinal muscular atrophy be offered routinely regardless of ethnicity; the American College of Obstetricians and Gynecologists (the College) does not currently support this recommendation, citing a need for additional research. METHODS: Multiplex ligation-dependent probe amplification was used to assess SMN1 copy number in 32,771 patients from fertility centers across the United States. RESULTS: A total of 549 carriers were identified, giving an approximate 1/60 pan-ethnic carrier frequency. The observed carrier frequencies in specific ethnic groups ranged from one in 96 in African Americans to one in 54 in the Ashkenazi Jewish. CONCLUSION: Carrier screening for spinal muscular atrophy in fertility centers is becoming routine; however, many obstetricians and gynecologists follow the College's recommendations. Our analysis shows the pan-ethnic carrier frequency for spinal muscular atrophy to be in line with that of cystic fibrosis; however, importantly, in the majority of situations, spinal muscular atrophy is more clinically severe. When the College published its spinal muscular atrophy guideline against routine screening in 2009, other factors in addition to carrier frequency were considered. Many technologic improvements have occurred leading to reduced cost of testing, and significant advances have occurred in clinical understanding since the guideline was published. Given the widespread availability of spinal muscular atrophy screening, the benefit this testing can provide to patients, and the recent advances in testing and clinical knowledge, the College may consider reevaluating its decision on routine carrier screening for spinal muscular atrophy.