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
- Author:
Xia CHEN
1
;
Yang GAO
;
Wenhong CHEN
;
Xing LUO
;
Keya TONG
Author Information
1. Center for Reproductive Medicine, Chongqing Health Center for Women and Children (Women and Children's Hospital of Chongqing Medical University), Chongqing 400013, China. 786595244@qq.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Female;
Muscular Atrophy, Spinal/diagnosis*;
Pregnancy;
Prenatal Diagnosis/methods*;
Adult;
Survival of Motor Neuron 1 Protein/genetics*;
Genetic Carrier Screening/methods*;
DNA Copy Number Variations/genetics*;
China;
Genetic Testing;
Heterozygote
- 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: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. 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.
