淄博地区孕妇脊髓性肌萎缩症多技术联合筛查及产前诊断分析  

Multi-technique combined screening and prenatal diagnosis for spinal muscular atrophy in pregnant women from Zibo region

作　　者：韩佳佳 边姗姗 魏欣[1] 刘娜 牟凯[1] HAN Jiajia;BIAN Shanshan;WEI Xin;LIU Na;MU Kai(Department of Medical Genetics,Zibo Maternal and Child Health Hospital,Zibo,Shandong 255000,China;Department of Obstetrical,Linzi Maternity and Child Care Hospital,Zibo,Shandong 255400,China)

机构地区：[1]淄博市妇幼保健院医学遗传科,山东淄博255000 [2]淄博市临淄区妇幼保健院产科,山东淄博255400

出　　处：《中国优生与遗传杂志》2024年第7期1486-1490,共5页Chinese Journal of Birth Health & Heredity

基　　金：淄博市妇幼保健领域科研创新与科技引领计划项目(ZBFY2023013)。

摘　　要：目的 对淄博市23857例孕期妇女进行脊髓性肌萎缩症(SMA)携带者筛查,了解本地区SMA携带频率以及基因型分布频率;并对高危胎儿进行产前诊断,减少SMA患儿的出生。方法 将淄博市2019年7月至2023年6月的共23857例孕期妇女作为研究对象,分别采用荧光定量聚合酶链反应(qPCR)、PCR-熔解曲线法以及荧光PCR-毛细管电泳法进行SMA携带者筛查;采用多重连接依赖探针扩增技术(MLPA)对高危胎儿进行产前诊断。结果 23857例样本中共检出SMN1基因第7外显子杂合缺失450例,第7外显子缺失携带率约1.89%(450/23857)。检出夫妻双方同为SMA基因携带者9对,经过产前诊断分析,其中有2例胎儿为SMA患儿,2例SMA携带者,5例正常胎儿。对1例SMA患者孕妇进行家系验证,结果显示其SMN1为0拷贝,SMN2为3拷贝,其配偶SMN1和SMN2均为2拷贝,产前诊断显示其胎儿SMN1为1拷贝,SMN2为2拷贝。结论 开展SMA携带者筛查,可以了解本地区携带频率,为遗传咨询和产前诊断提供理论依据。对高风险胎儿进行产前诊断,可以有效降低脊髓性肌萎缩症患儿的出生率。对出生缺陷的防控具有重要的临床意义。Objective To determine the carrier frequency of spinal muscular atrophy(SMA)in reproductive age women in Zibo area and reduce the birth rate of children with SMA through prenatal diagnosis of high-risk fetuses.Methods A total of 23857 pregnant women in Zibo from July 2019 to June 2023 were selected as the research object.Real-time quantitative(qPCR)and PCR combined with capillary electrophoresis was used to detect SMA carriers and multiplex ligation-dependent probe amplification(MLPA)was used to prenatal diagnosis for the couples who were both SMA carriers.Results Among the 23857 pregnant women,a total of 450 SMA carriers were detected,indicating the carrier prevalence was approximately 1.89%.Nine couples were detected as SMA carriers.After prenatal diagnosis,there were two fetus were diagnosed with SMA,two fetus were SMA carriers and five normal fetuses.Family verification of a pregnant woman with SMA showed that she had O copies of SMNI and 3 copies of SMN2,her spouse had 2 copies of SMNI and SMN2,and the prenatal diagnosis showed that her fetus had 1 copy of SMNl and 2 copies of SMN2.Conclusion Through this study,we have determined the carrier frequency for SMA in the population of Zibo area.The result may provide a basis for genetic counseling and prenatal diagnosis.Prenatal diagnosis of high-risk fetuses can effectively reduce the birth rate of children with SMA.It has important clinical significance for the prevention and control of birth defects.

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 

分 类 号：R714.55[医药卫生—妇产科学]