赣南医科大学学报2026，Vol.46Issue(4)：332-335,4.DOI:10.3969/j.issn.2097-7174.2026.04.006
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
Analysis of spinal muscular atrophy carrier screening and prenatal diagnosis in 1 910 pregnant women in Southern Jiangxi Region
摘要
Abstract
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.关键词
脊髓性肌萎缩症/运动神经元存活基因1/多重连接探针扩增技术/产前诊断Key words
Spinal muscular atrophy/Survival motor neuron 1/Multiplex ligation-dependent probe amplification/Prenatal diagnosis分类
医药卫生引用本文复制引用
肖琳,骆福裕,谢清,陈俊坤..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[J].赣南医科大学学报,2026,46(4):332-335,4.基金项目
赣州市科技计划项目(赣市科发[2019]60号) （赣市科发[2019]60号）
