Carrier screening and prenatal diagnosis for Spinal muscular atrophy in 17 926 women of reproductive age in Chongqing
10.3760/cma.j.cn511374-20240808-00431
- VernacularTitle:重庆地区17 926例育龄女性脊髓性肌萎缩症携带者筛查及产前诊断分析
- Author:
Xia CHEN
1
;
Yang GAO
1
;
Wenhong CHEN
1
;
Xing LUO
1
;
Keya TONG
1
Author Information
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
- Publication Type:Journal Article
- Keywords:
Spinal muscular atrophy;
Carrier screening;
Real-time fluorescence quantitative PCR;
Prenatal diagnosis;
Women
- From:
Chinese Journal of Medical Genetics
2025;42(2):180-186
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To 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.Methods:A total of 17 926 women of childbearing age attending Chongqing Health Center for Women and Children between May 2021 and November 2023 were enrolled, including 3 398 pre-pregnant women and 14 528 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). Results:① Among the 17 926 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. ② Seven 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. Conclusion:This 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.
