重庆地区17926例育龄女性脊髓性肌萎缩症携带者筛查及产前诊断分析  

Carrier Carrier screening and prenatal diagnosis for Spinal muscular atrophy in 17926 women of reproductive age in Chongqingscreening and prenatal diagnosis for Spinal muscular atrophy in 17926 women of reproductive age in Chongqing

作　　者：陈霞[1] 高洋[1] 陈文红 罗幸 童珂雅 Chen Xia;Gao Yang;Chen Wenhong;Luo Xing;Tong Keya(Center for Reproductive Medicine,Chongqing Health Center for Women and Children(Women and Children′s Hospital of Chongqing Medical University),Chongqing 400013,China)

机构地区：[1]重庆市妇幼保健院(重庆医科大学附属妇女儿童医院)生殖医学中心,重庆400013

出　　处：《中华医学遗传学杂志》2025年第2期180-186,共7页Chinese Journal of Medical Genetics

基　　金：重庆市自然科学基金面上项目资助(CSTB2022NSCQ-MSX0253)。

摘　　要：目的筛查重庆地区育龄女性脊髓性肌萎缩症(SMA)携带者频率,并对高风险夫妇行产前诊断分析。方法选取2021年5月至2023年11月就诊于重庆市妇幼保健院的17926例育龄女性为研究对象,包括3398例孕前女性和14528例孕妇,均无SMA表型及相关疾病家族史。采用实时荧光定量PCR(RT-qPCR)方法检测受试者SMN1基因第7、8外显子(E7、E8)的拷贝数,筛选出高风险夫妇,采用多重连接探针扩增技术(MLPA)对产前高风险夫妇胎儿进行产前诊断。本研究已通过重庆市妇幼保健院医学伦理委员会审查[批准号:2021伦审(研)2021-RGI-02号]。结果①17926例育龄女性中,298例(1.66%)存在杂合缺失,其中278例(1.55%)E7、E8同时缺失,20例(0.11%)E7单独缺失。②检出高风险夫妇7对,其中产前高风险夫妇6对,经MLPA检出2例胎儿SMN1基因E7、E8杂合缺失,4例胎儿未见异常。结论上述研究成果揭示了重庆地区育龄女性的SMA携带频率,为该地区SMA的一、二级出生缺陷防控提供参考依据。ObjectiveTo assess the carrier frequency of spinal muscular atrophy(SMA)in women of childbearing age in Chongqing and to evaluate prenatal diagnostic outcomes in high-risk couples.MethodsA total of 17926 women of childbearing age attending Chongqing Health Center for Women and Children between May 2021 and November 2023 were enrolled,including 3398 pre-pregnant women and 14528 pregnant women,all of whom had no clinical phenotype or family history of SMA or related neuromuscular disorders.Real-time quantitative PCR(RT-qPCR)was used to determine the copy number variations in exons 7 and 8(E7,E8)of the SMN1 gene.High-risk carriers were identified based on the genetic screening results.Multiplex ligation-dependent probe amplification(MLPA)was employed for prenatal diagnosis of fetuses from high-risk couples.This study was approved by the Medical Ethics Committee of Chongqing Health Center for Women and Children(Ethics No.2021-RGI-02).Results①Among the 17926 women of childbearing age,298(1.66%)were identified as heterozygous carriers,including 278(1.55%)with concurrent deletions of E7 and E8,and 20(0.11%)with isolated deletions of E7.②Seven high-risk couples were identified,six of whom were prenatal couples.Of the two fetuses from these high-risk pregnancies,both exhibited heterozygous deletions of E7 and E8 in the SMN1 gene,while four fetuses showed no abnormalities.ConclusionThis study provides a comprehensive assessment of the carrier frequency of SMA among women of childbearing age in Chongqing,offering valuable data for the primary and secondary prevention of SMA-related birth defects in the region.

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

分 类 号：R714.5[医药卫生—妇产科学]