Carrire screening and prenatal diagnosis for spinal muscular atrophy in 13022 pregnant women from Gansu region
Objective A total of 13022 pregnant women in Gansu province were screened for spinal muscular atrophy(SMA)carriers,and the prevalence of motor neuron survival gene 1(SMN1)mutation in the population was calculated.Pre-natal diagnosis of high-risk fetuses was performed to reduce the number of SMA born in this region.Methods Real-time fluorescence quantitative PCR was used to detect SMN1 gene E7/E8 copy number in pregnant women,and the spouses of pregnant women who were screened as carriers were also detected.If both partners are carriers,prenatal diagnosis of high-risk fetuses is performed by multi-junction probe amplification(MLPA).Results Among the 13022 pregnant women,a total of 236 SMA carriers were detected(217 cases of E7 and E8 heterozygous deletion of SMN1 gene,and 19 cases of E7 heterozygous deletion),and the carrier frequency was 1/56(1.81％).Four couples were detected as SMA carriers.After prenatal diagnosis,there were 2 SMA carriers,1 child and 1 normal fetus.In addition,the copy number of SMN2 gene E7/E8 was detected in 236 pregnant women with carriers.A total of 39 cases were detected with SMN2 gene E7 and E8 duplication,and 44 cases were detected with SMN2 gene E7 and E8 heterozygosity deletion.Conclusion The analysis of SMA mutation type and carrier rate in Gansu province can provide data support for SMA genetic counseling and prenatal diagnosis.The detection of SMN2 copy number in carriers can provide a new idea for the screening,diagnosis and medication of SMA in Gansu.
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