PDF(Pubmed)
Abstract：
OBJECTIVE: Spinal muscular atrophy (SMA) is an autosomal recessive disorder mainly affecting the neuromuscular system, which seriously threatens the life and health of patients. But few studies have reported the acceptance rate of SMA gene screening and SMA carrier rate in China. The present study aimed to clarify the two issues in China through a retrospective analysis of 18,818 reproductive age women in Wuhan area of China.
METHODS: The copy number (CN) of exons 7 and 8 in survival motor neuron 1 (SMN1) gene was detected by real-time quantitative PCR, and the results were verified by multiplex ligation-dependent probe amplification.
RESULTS: Carrier screening was offered to 44,953 women of childbearing age in our medical center from March, 2018, to February, 2022, of whom 18,818 were enrolled in the program. A total of 336 women were identified as carriers (1.73%; 326/18,808; without fertility history of the children with SMA). Among 18,818 reproductive age women, 286 spouses (85.12%; 286/336) were successfully recalled for screening. The results showed 17 couples at high risk of having children with SMA, of whom prenatal diagnosis was implemented in 11, and 6 fetuses were identified with SMA. All the 5 pregnant women bearing the 6 SMA fetuses chose to terminate the pregnancy by artificial abortion.
CONCLUSIONS: Reproductive age women and their spouses in Wuhan area showed a positive attitude toward general screening for SMA carriers. Given the high early mortality of children with SMA, screening for SMA carriers in women of reproductive age is necessary and feasible.
METHODS: The copy number (CN) of exons 7 and 8 in survival motor neuron 1 (SMN1) gene was detected by real-time quantitative PCR, and the results were verified by multiplex ligation-dependent probe amplification.
RESULTS: Carrier screening was offered to 44,953 women of childbearing age in our medical center from March, 2018, to February, 2022, of whom 18,818 were enrolled in the program. A total of 336 women were identified as carriers (1.73%; 326/18,808; without fertility history of the children with SMA). Among 18,818 reproductive age women, 286 spouses (85.12%; 286/336) were successfully recalled for screening. The results showed 17 couples at high risk of having children with SMA, of whom prenatal diagnosis was implemented in 11, and 6 fetuses were identified with SMA. All the 5 pregnant women bearing the 6 SMA fetuses chose to terminate the pregnancy by artificial abortion.
CONCLUSIONS: Reproductive age women and their spouses in Wuhan area showed a positive attitude toward general screening for SMA carriers. Given the high early mortality of children with SMA, screening for SMA carriers in women of reproductive age is necessary and feasible.
摘要：
目的：脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传疾病，主要影响神经肌肉系统，严重威胁患者的生命健康。但我国SMA基因筛查的收受接管率和SMA携带者率的研讨较少。本研究旨在通过对中国武汉地区18818名育龄妇女的回顾性分析来阐明这两个问题。
方法：通过实时定量PCR检测存活运动神经元1（SMN1）基因外显子7和8的拷贝数（CN），并通过多重连接依赖性探针扩增验证结果。
结果：从3月开始，在我们的医疗中心为44,953名育龄妇女提供了载体筛查，2018年2月,2022年，其中18,818人参加了该计划。共有336名妇女被确定为携带者（1.73％；326/18,808；无SMA儿童生育史）。在18818名育龄妇女中，286名配偶（85.12%；286/336）被成功召回筛查。结果显示，有17对夫妇有SMA孩子的风险很高，其中11例实施了产前诊断，6例胎儿被确定为SMA。所有5例孕妇均选择通过人工流产终止妊娠。
结论：武汉地区育龄妇女及其配偶对SMA携带者的一般筛查持积极态度。鉴于SMA儿童的早期死亡率很高，对育龄妇女进行SMA携带者筛查是必要且可行的。
方法：通过实时定量PCR检测存活运动神经元1（SMN1）基因外显子7和8的拷贝数（CN），并通过多重连接依赖性探针扩增验证结果。
结果：从3月开始，在我们的医疗中心为44,953名育龄妇女提供了载体筛查，2018年2月,2022年，其中18,818人参加了该计划。共有336名妇女被确定为携带者（1.73％；326/18,808；无SMA儿童生育史）。在18818名育龄妇女中，286名配偶（85.12%；286/336）被成功召回筛查。结果显示，有17对夫妇有SMA孩子的风险很高，其中11例实施了产前诊断，6例胎儿被确定为SMA。所有5例孕妇均选择通过人工流产终止妊娠。
结论：武汉地区育龄妇女及其配偶对SMA携带者的一般筛查持积极态度。鉴于SMA儿童的早期死亡率很高，对育龄妇女进行SMA携带者筛查是必要且可行的。
