SMA carrier testing using Real-time PCR as a potential preconception screening tool

Background SMA is a neuromuscular genetic disorder causing irreversible degeneration of the anterior horn cells of lower motor neurons. According to the age of onset and severity of the condition, it is classified into 5 subtypes. SMA carrier’s frequency worldwide is 1:40–80. We used quantitative real-time PCR to determine the copy number of the disease-determining SMN1 gene by rapid and reliable assays. We studied the SMN1 gene copy number in Egyptian sample of 115 individuals, as well as in 10 SMA families. Results Our results showed that 57.4% of the couples with the previous history of an affected family members were carriers. On the individual level, carriers of single SMN1 gene copy rate are much higher than the previously reported frequency rates. The effect of consanguineous marriages appears evident in SMA as an autosomal recessive disorder. Conclusions In conclusion, the carrier frequency detected in our cohort was high, which possibly corresponds with the worldwide report of SMA as a leading genetic cause of death among infants. Considering the high rate of consanguinity in developing countries confirms the importance of national SMA carrier screening in Egypt. The qPCR carrier screening test is a rapid-cost effective test that can detect approximately 90% of carriers. A population-based preconception prenatal screening for couples will also help reduce the disease burden.