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Spinal muscular atrophy (SMA) is a common neuromuscular disease with autosomal recessive inheritance. The disease gene,  SMN1 , is homozygously deleted in 95% of SMA patients. Although SMA has been an incurable disease, treatment in infancy with newly developed drugs has dramatically improved the disease severity. Thus, there is a strong rationale for newborn and carrier screening for SMA, although implementing SMA carrier screening in the general population is controversial. We previously developed a simple, accurate newborn SMA screening system to detect homozygous  SMN1  deletions using dried blood spots (DBS) on filter paper. Here, we modified our previous system to detect the heterozygous deletions of  SMN1 , which indicates SMA carrier status. The system involves a calibrator-normalized relative quantification method using quantitative nested PCR technology. Our system clearly separated the DBS samples with one  SMN1  copy (carrier status with a heterozygous deletion of  SMN1 ) from the DBS samples with two  SMN1  copies (non-carrier status with no deletion of  SMN1 ). We also analyzed DBS samples from SMA families, confirmed SMA in the affected children, and determined the carrier status of their parents based on the  SMN1  copy number. In conclusion, our system will provide essential information for risk assessment and genetic counseling, at least for SMA families.

Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots