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Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

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.

Conclusion

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.

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Data availability

Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.

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Acknowledgements

We thank the individuals for participation in the screening program. We are grateful to Berry Genomics Corporation (Beijing, China) and Zhixian Zhao (Berry Genomics Corporation, Beijing, 102200, China), for their technical assistance and data analysis.

Funding

This work was supported in part by grants from the National Natural Science Foundation of China (Grant No. 81200354), the National Science and Technology Major Project of China (2017ZX09304022), and the National Key Research and Development Program of China (2018YFC1002900).

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, Hubei, China

    Yanan Sun, Juan Xiao, Jianli Wu, Yuanyuan Wu, Xinwei Shi, Shufang Li, Ling Feng & Suhua Chen

  2. Department of Obstetrics and Gynecology, Wuhan Children’s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430015, Hubei, China

    Songyan Ma

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  1. Yanan Sun
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Contributions

S.C. participated in and designed the study. Y.S, S.M, J.X, J.W, Y.W, X.S, S.L, and L.F collected medical records and interpreted data. Y.S. and S.C. drafted the manuscript. All authors read and approved the final version of the manuscript.

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Correspondence to Suhua Chen.

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Yanan Sun and Songyan Ma are co-first authors.

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Sun, Y., Ma, S., Xiao, J. et al. Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China. J Assist Reprod Genet 41, 127–133 (2024). https://doi.org/10.1007/s10815-023-02991-w

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