新疆地区3302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 among 3302 pregnant women from Xinjiang region

目的对新疆地区3302例孕妇进行脊髓性肌萎缩症(SMA)携带者筛查,初步确定该地区孕妇SMA携带率。方法对2020年4月至2023年2月于该院行产前检查的29089例孕妇进行宣教,其中3302例接受SMA携带者筛查,采用荧光定量PCR技术检测运动神经元存活基因1(SMN1)外显子7(E7)和外显子8(E8)的拷贝数筛查SMA携带者,并利用多重连接探针扩增(MLPA)技术对夫妻双方均为SMA携带者的高危胎儿进行产前诊断。结果SMA携带者筛查的接受率为11.35%。3302例孕妇中,共发现58例SMA携带者,总携带率为1.76%(1/57);其中汉族45例,携带率为1.63%(1/61);少数民族13例,携带率为2.39%(1/42)。58例携带者中,46例配偶接受SMA检测,结果显示有2对夫妻均为SMA携带者,进一步行胎儿产前诊断,MLPA检测结果提示胎儿均为SMN1 E7和E8杂合缺失,均建议继续妊娠。结论本研究初步确定了新疆地区孕妇SMA携带率,孕妇SMA携带者筛查和高风险胎儿的产前诊断对出生缺陷防控具有重要意义。

Objective To carry out carrier screening for spinal muscular atrophy(SMA)in 3302 pregnant women from Xinjiang region and preliminarily determine the SMA carrier frequency among pregnant women in the region.Methods A total of 29089 pregnant women who underwent prenatal visits at this hospital from April 2020 to February 2023 were educated,of whom 3302 were received SMA carrier screening.SMA carriers were screened by detecting the copy numbers of SMN1 exons 7(E7)and 8(E8)using quantitative fluorescence PCR.Multiplex ligation-dependent probe amplification(MLPA)was used for prenatal diagnosis of high-risk fetuses in couples who were both SMA carriers.Results The acceptance rate of SMA carriers screening was 11.35%.Among the 3302 pregnant women,58 were found to be SMA carriers,and the total carrier frequency was 1.76%(1/57).Among them,there were 45 cases of Han ethnicity,with a carrying frequency of 1.63%(1/61),and there were 13 cases of ethnic minorities,with a carrying frequency of 2.39%(1/42).Among the 58 carriers,46 spouses were received SMA screening,and the results showed that two couples were both SMA carriers.Further prenatal diagnosis was performed,and the results of MLPA indicated that the fetuses were all heterozygous deletions of SMN1 E7 and E8,suggesting continued pregnancy.Conclusion This study has preliminarily determined the SMA carrier frequency among pregnant women in Xinjiang region.SMA carrier screening in pregnant women and prenatal diagnosis of high-risk fetuses are of great significance for the prevention and control of birth defects.