盐城地区4429例孕妇脊髓性肌萎缩症携带者筛查及产前诊断  

Carrier screening and prenatal diagnosis for spinal muscular atrophy of 4429 pregnant women in Yancheng area

作　　者：张庆娥 郑建丽[2] 李敏[2] 董晶晶[2] 周月云[2] 刘建兵 胡苏玮 ZHANG Qing’e;ZHENG Jianli;LI Min;DONG Jingjing;ZHOU Yueyun;LIU Jianbing;HU Suwei(Yangzhou University,Yangzhou,Jiangsu 225002,China;Department of Prenatal Diagnosis,Yancheng Maternal and Child Health Hospital,Yancheng,Jiangsu 224001,China;Department of Medical Genetic,Yangzhou Maternal and Child Health Care Hospital Affiliated Yangzhou University Medical College,Yangzhou,Jiangsu 225002,China)

机构地区：[1]扬州大学,江苏扬州225002 [2]江苏省盐城市妇幼保健院产前诊断中心,224001 [3]扬州大学医学院附属扬州市妇幼保健院医学遗传中心,江苏扬州225002

出　　处：《重庆医学》2023年第5期734-736,741,共4页Chongqing medicine

基　　金：江苏省盐城市医学科技发展计划项目(YK2021054)。

摘　　要：目的对盐城地区孕妇进行脊髓性肌萎缩症(SMA)携带者筛查,并对携带者夫妇的胎儿行产前诊断,探讨该地区SMA携带者的携带频率及临床意义。方法选取2020年10月至2022年2月盐城市妇幼保健院产前诊断中心就诊的33560例表型正常的孕妇为研究对象。运用荧光定量PCR检测运动神经元存活基因1(SMN1)第7、8外显子(E7、E8)拷贝数,筛出SMA携带者夫妇。然后通过多重连接依赖探针扩增技术(MLPA)对其胎儿进行产前诊断。结果33560例孕妇中4429例自愿接受携带者筛查,接受率约为13.2%。4429例孕妇中共筛查到携带SMN1基因E7单拷贝或E7和E8单拷贝73例,其中67例E7和E8单拷贝,6例单纯E7单拷贝,携带频率1/61。73例携带者经过遗传咨询,60例配偶接受SMA筛查,结果提示2对夫妇同时为SMA携带者,并对2例高风险胎儿行产前诊断,最终提示SMN1基因E7和E8双拷贝胎儿1例(正常),继续妊娠;SMN1基因E7和E8零拷贝胎儿1例(SMA患儿),终止妊娠。结论通过筛查明确了盐城地区人群的SMA突变的携带频率,联合运用MLPA对高危胎儿行产前诊断,可避免SMA患儿出生。Objective To screen the carriers of spinal muscular atrophy(SMA)of 4429 pregnant women in Yancheng area,and prenatal diagnosis was performed on the fetus of the carrier couple,so as to explore the carrying frequency of SMA and the clinical significance.Methods A total of 33560 pregnant women with normal phenotype were selected from Prenatal Diagnosis Department of Yancheng Maternal and Child Health Hospital from October 2020 to February 2022.The copy numbers of exons seven and eight(E7 and E8)in motor neuron survival gene 1(SMN1)were detected by fluorescence quantitative PCR,and couples of SMA carriers were screened out.Fetuses of both carriers were performed on prenatal diagnose by multiple connection dependent probe amplification(MLPA).Results There were 33560 pregnant women received SMA carrier screening education,of whom 4429 pregnant women accepted carrier screening voluntarily,and the acceptance rate was about 13.2%.Of the 4429 pregnant women,73 cases were screened to carry E7 single copy or E7 and E8 single copy of SMN1 gene,including 67 cases with E7 and E8 single copy and six cases with E7 single copy only.The carrier rate was 1/61.After genetic counseling,60 spouses accepted the screen for SMA.The results showed that two couples were both SMA carriers,and prenatal diagnosis was implemented on the two high-risk fetuses.Finally,it was suggested that one fetus with double copies of SMN1 gene E7 and E8(normal)continued the pregnancy.One case of fetus with zero copies of SMN1 gene E7 and E8(child with SMA),termination of pregnancy.Conclusion The frequency of SMA mutation in Yancheng population was determined by screening,and combining use of MLPA for prenatal diagnosis in high-risk fetuses can avoid the birth of SMA children.

关 键 词：脊髓性肌萎缩症 荧光定量PCR SMN1基因 携带者筛查 产前诊断 

分 类 号：R715.5[医药卫生—妇产科学]