False Negative Carrier Screening in Spinal Muscular Atrophy. (March 2020)

• Record Type: Journal Article
• Authors: Butcher, Sophie; Smith, Melanie; Woodcock, Ian R.; Delatycki, Martin; Ryan, Monique M.; Forbes, Robin
• Is Part Of: Journal of child neurology. Volume 35:Number 4(2020:Apr.)
• Page Start: 274
• Page End: 277
• Publication Date: 2020-03
• Subjects: spinal muscular atrophy -- SMA -- carrier screening -- false negative tests; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073819891269
• Languages: English
• ISSNs: 0883-0738

Abstract

We describe a case of spinal muscular atrophy diagnosed in an infant despite previous parental carrier testing suggesting low risk of the disease. This case report explains how this situation arose and illustrates that clinicians need to perform diagnostic testing in children where clinical suspicion for spinal muscular atrophy is high, regardless of the result of previous parental carrier testing, because of the risk of false negative results.