赣南地区1 910例孕妇脊髓性肌萎缩症携带者筛查及产前诊断分析OA

Objective:Spinal muscular atrophy(SMA)is an inherited neuromuscular disorder primarily caused by mutations in the survival motor neuron 1(SMN1)gene.This study aimed to investigate the carrier rate of SMA among pregnant women in Southern Jiangxi Region and analyze the significance of carrier screening and prenatal diagnosis.Methods:A total of 1 910 healthy pregnant women from Southern Jiangxi Region were enrolled.Copy numbers of SMN1 gene exons 7(E7)and 8(E8)were detected in whole blood samples using PCR melting curve analysis.Spouses of identified carriers underwent subsequent SMN1 gene testing.If both partners were SAM carriers,prenatal diagnosis of the fetus was performed using multiplex ligation-dependent probe amplification(MLPA).Results:Among the 1 910 pregnant women,32 SMA carriers were detected(1.68%),including 28 cases with heterozygous deletions of both E7 and E8,and 4 cases with a heterozygous deletion of E7 only.Four high-risk couples(both partners being carriers)were identified.Prenatal diagnosis for these pregnancies revealed 1 fetus with a homozygous deletion in the E7 and E8 regions,with termination of pregnancy;1 with heterozygous deletions of both E7 and E8,1 with a heterozygous deletion of E7 only,and 1 with no deletion detected,pregnancy continued.Conclusion:This study revealed the carrier rate of the SMA pathogenic gene in Southern Jiangxi Region.Prenatal diagnosis for high-risk fetuses can effectively prevent the birth of children with SMA.