Journal Article

Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age women

Zhou, Lu, Xu, Zhiyong, Zhang, Lijun, Mo, Junluan, Wu, Weiqing, Zhang, Lei, Xu, Xiaoxin

2024

Overview

Background To determine the carrier frequency of, and evaluate a carrier screening program for, spinal muscular atrophy (SMA) in reproductive age women in Shenzhen area. Methods A staged screening procedure was used to perform carrier screening for SMA in 22,913 Chinese reproductive age women between 2019 and 2022 in Shenzhen area of China. First, the copy number of exon 7 in the SMN1 gene were detected in women of reproductive age using real‐time quantitative polymerase chain reaction. If SMA carriers were detected, their spouses were then recommended to test. Prenatal diagnosis was carried out in couples who were both carriers. Results A total of 389 women were found to be SMA carriers (1.70%, 95% CI: 1.53%–1.87%), indicating the carrier prevalence was approximately 1:59. Despite the proportion of nonpregnant women increased from 37.96% in 2019 to 58.18% in 2022 (p < 0.05) among the 22,913 reproductive age women, the recall rate of spouses was still not high (62.21%, 95% CI: 57.39%–67.03%). Eight partners were found to be SMA carriers and two fetuses were determined to have SMA with no copies of the SMN1 gene. Conclusion Although the acceptability and awareness of SMA carrier screening in Chinese population has increased in recent years, it still fails to reach the ideal expectation. Our experience may provide a basis for and facilitate the popularization of SMA carrier screening in Shenzhen area. The carrier prevalence of spinal muscular atrophy (SMA) was calculated to be 1:59 by gradual screening procedure in 22,913 Chinese reproductive age women in Shenzhen area. Two hundred and forty‐two (62.21%) carriers' spouses were recalled and tested. Eight partners were found to be SMA carriers and two fetus was determined to have SMA.

• Publisher: John Wiley & Sons, Inc,John Wiley and Sons Inc
• Subject: Age / Atrophy / Carrier frequencies / carrier screening / China / Chinese women / Consultants / Copy number / Couples / Exons / Family medical history / Female / Fetuses / Genetic counseling / Genetic screening / Hospitals / Humans / Medical prognosis / Muscular Atrophy, Spinal - diagnosis / Muscular Atrophy, Spinal - epidemiology / Muscular Atrophy, Spinal - genetics / Original / Polymerase chain reaction / Pregnancy / Prenatal diagnosis / Prenatal Diagnosis - methods / Real-Time Polymerase Chain Reaction / Screening / SMN protein / Spinal muscular atrophy / Womens health