Carrier screening and prenatal diagnosis for spinal muscular atrophy among 3 302 pregnant women from Xinjiang region
10.3969/j.issn.1671-8348.2024.10.012
- VernacularTitle: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
- Author:
Cuizhen ZHANG
1
;
Xuan LIU
;
Huijun LI
;
Yang LI
;
Lujia YANG
;
Shuyuan XUE
Author Information
1. 乌鲁木齐市妇幼保健院产前诊断中心,乌鲁木齐 830001
- Keywords:
spinal muscular atrophy;
survival motor neuron gene 1;
multiplex ligation-dependent probe amplification;
carrier screening;
copy number
- From:
Chongqing Medicine
2024;53(10):1508-1511,1518
- CountryChina
- Language:Chinese
-
Abstract:
Objective To carry out carrier screening for spinal muscular atrophy(SMA)in 3 302 preg-nant women from Xinjiang region and preliminarily determine the SMA carrier frequency among pregnant women in the region.Methods A total of 29 089 pregnant women who underwent prenatal visits at this hos-pital from April 2020 to February 2023 were educated,of whom 3 302 were received SMA carrier screening.SMA carriers were screened by detecting the copy numbers of SMN1 exons 7(E7)and 8(E8)using quantita-tive fluorescence PCR.Multiplex ligation-dependent probe amplification(MLPA)was used for prenatal diag-nosis of high-risk fetuses in couples who were both SMA carriers.Results The acceptance rate of SMA carri-ers screening was 11.35％.Among the 3 302 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 fre-quency 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.
