Objective Through the analyze of the survival motor neuron 1(SMN1)genel of pregnant women in the Nanhai region,for part of the population in the region of spinal muscular aAtrophy(SMA)carrying rate,and further prenatal diagnosis and analysis of high risk pregnant women.Methods Choose between January 2022 and December 2022,Nanhai region,10995 cases of pregnant women in clinical medical records and peripheral blood samples were SMA screening tests,using quantitative real-time PCR(RT-PCR)for exon 7,exon 8 of SMN1(E7,E8)testing.If abnormal results are detected,a genetic diagnosis of spinal muscular atrophy is performed,and the pregnant woman's spouse is contacted for SMA screening tests and related prenatal diagnosis.Results Among 10995 pregnant women,196 SMA carriers were detected(91 SMN1 gene E7 heterozygosity deletion,105 SMN1 gene E7,E8 both heterozygosity deletion).There was one homozygous deletion of SMN1 gene E7 and E8,and the carrying rate was 1.79％.4 couples were detected as SMA gene carriers.Through prenatal diagnosis and analysis,no homozygous fetuses with SMN1 gene E7 and E8 were detected.SMN1 gene E7 heterozygosity de-letion in 1 case,SMN1 gene E7,E8 heterozygosity deletion in 1 case,normal genotype in 2 cases.Conclusion To analyze the carrier rate of spinal muscular atrophy among pregnant women in the Nanhai region,and to provide clues for further research on prenatal diagnosis of spinal muscular atrophy,which can reduce the birth of severe spinal muscular atrophy in Nanhai re-gion and provide scientific basis and technical support for the implementation at the population level.
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