妇儿健康导刊2025，Vol.4Issue(18)：65-68,4.DOI:10.3969/j.issn.2097-115X.2025.18.012
26 751例孕妇脊髓性肌萎缩症携带者筛查及产前诊断结果分析
Analysis of screening and prenatal diagnosis results of 26,751 pregnant women with spinal muscular atrophy
摘要
Abstract
Objective To analyze the status of spinal muscular atrophy(SMA)carrier screening and prenatal diagnosis in 26,751 pregnant women from 2020 to 2023.Methods A total of 26,751 pregnant women in the Department of Medical Genetics and Prenatal Diagnosis of Langfang Maternal and Child Health Hospital were tested for E7 and E8 gene by real-time fluorescence quantitative PCR.The study period was from January 2020 to December 2023.The results of SMA screening and prenatal diagnosis were analyzed.Results Among the 26,751 pregnant women,547 cases(2.04%)were SMA carriers,of which 451 cases(1.69%)were heterozygous deletion of E7 and E8,24 cases(0.09%)were single deletion of E7,72 cases(0.27%)were single deletion of E8,and no homozygous deletion of E7 and E8 was found.Seven couples were positive,accounting for 0.03%.After prenatal diagnosis,one case was heterozygous deletion,two cases were homozygous deletion,and four cases were normal.The pregnant women with homozygous deletion were induced labor,and the pregnant outcomes of those with heterozygous deletion were normal.Conclusion Screening and prenatal diagnosis of SMA carriers in pregnant women can identify carriers early,assess the risk of fetal disease,and provide genetic counseling for families,with the aim of reducing the birth of SMA patients and improving the quality of the population.关键词
脊髓性肌萎缩症/携带者筛查/产前诊断/运动神经元存活基因1Key words
Spinal muscular atrophy/Carrier screening/Prenatal diagnosis/Survival motor neuron 1分类
医药卫生引用本文复制引用
蒋建烨,胡宁宁,马婕,郭仕如,邢焕霞..26 751例孕妇脊髓性肌萎缩症携带者筛查及产前诊断结果分析[J].妇儿健康导刊,2025,4(18):65-68,4.基金项目
河北省廊坊市科学技术研究与发展计划自筹经费项目(2025013113). （2025013113）
