贵阳地区1163例脊髓性肌萎缩症筛查现状及基因诊断策略分析  

Analysis of the Current Situation and Genetic Diagnosis Strategy of 1,163 Cases of Spinal Muscular Atrophy in Guiyang Area

作　　者：李媛媛[1] 马星卫[2] 韩媛媛 黄盛文[2] LI Yuanyuan;MA Xingwei;HAN Yuanyuan;HUANG Shengwen(Department of Laboratory Medicine,Guizhou Provincial People's Hospital,Guiyang,Guizhou Province,550002 China;Prenatal Diagnosis Center,People's Hospital of Guizhou Province,Guiyang,Guizhou Province,550002 China;School of Medicine,Guizhou University,Guiyang,Guizhou Province,550025 China)

机构地区：[1]贵州省人民医院检验科,贵州贵阳550002 [2]贵州省人民医院产前诊断中心,贵州贵阳550002 [3]贵州大学医学院,贵州贵阳550025

出　　处：《系统医学》2022年第15期46-51,共6页Systems Medicine

基　　金：贵州省科技厅项目(黔科合LH字[2016]7155)。

摘　　要：目的对贵阳地区孕妇人群脊髓性肌萎缩症(spinal muscular atrophy,SMA)携带者的筛查现状进行研究,并对高风险孕妇行产前基因诊断,防止SMA患儿的出生。方法应用多重荧光定量PCR技术,对贵州省人民医院2018年1月-2019年12月1163例常规产检孕妇的运动神经元存活基因1(survival motor neuron,SMN1)进行定量检测,筛查出SMA携带者,并计算携带者的频率。对携带者的配偶进行筛查,并为双方均为携带者的夫妇提供产前诊断。结果对13478例孕妇进行SMA携带者筛查宣教,有1163例孕妇自愿接受筛查,接受率为8.62%。在接受筛查的孕妇中,检出SMA携带者26例,携带率为1/45(检出率2.24%)。经遗传咨询,12例携带者的配偶自愿接受SMA筛查,接受率为46.15%。检测出同为SMA携带者的夫妇2对。对高风险胎儿进行产前基因诊断,检出SMA患者1例,携带者1例。结论对贵阳地区孕妇人群进行第一次大规模SMA携带者筛查,根据筛查情况制定基因检测策略。其筛查流程和经验或将有助于SMA遗传咨询和产前基因诊断在贵阳地区的推广,对于优生优育、有效预防SMA胎儿的出生具有重要的临床意义。Objective To study the screening status of spinal muscular atrophy(SMA)carriers among pregnant women in Guiyang area,and to conduct prenatal genetic diagnosis for high-risk pregnant women to prevent the birth of SMA children.Methods Quantitative detection of survival motor neuron 1(SMN1)gene in 1163 pregnant women with rou⁃tine obstetric examination from January 2018 to December 2019 was performed using multiplex fluorescence quantita⁃tive PCR technology.SMA carriers were screened and the carrier frequency was calculated.Carrier spouses are screened and prenatal diagnosis is provided for couples who are both carriers.Results A total of 13478 pregnant women were screened for SMA,and 1,163 pregnant women were voluntarily screened,with an acceptance rate of 8.62%.Among the pregnant women who were screened,26 cases of SMA carriers were detected,and the carrier rate was 1/45(the detection rate was 2.24%).After genetic counseling,the spouses of 12 carriers were voluntarily screened for SMA,with an acceptance rate of 46.15%.Two couples who were both SMA carriers were detected.Prenatal genetic diagnosis of high-risk fetuses detected 1 case of SMA and 1 case of carrier.Conclusion The first large-scale SMA carrier screening was conducted among pregnant women in Guiyang,and a genetic testing strategy was formulated ac⁃cording to the screening situation.Our screening process and experience may be helpful for the promotion of SMA ge⁃netic counseling and prenatal genetic diagnosis in Guiyang,which has important clinical significance for prenatal and postnatal care and effective prevention of the birth of SMA fetuses.

关 键 词：脊髓性肌萎缩症 携带者筛查 运动神经元存活基因 产前诊断 

分 类 号：R596.2[医药卫生—内科学]