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Current attitudes and preconceptions towards expanded carrier screening in the Eastern Chinese reproductive-aged population

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

Abstract

Purpose

A growing number of Chinese individuals of reproductive age will face the choice of accepting or refusing expanded carrier screening (ECS). This study aimed to explore the awareness, wishes, and possible misconceptions of ECS among this population, as well as factors affecting their decision-making.

Methods

Chinese reproductive-aged individuals in Eastern China who sought cell-free fetal DNA screening and peripheral blood karyotype were invited to complete a 31-item ECS survey by scanning a specific quick response code. We evaluated the relationship between awareness, attitudes, and intentions to participate in ECS, along with possible misconceptions.

Results

Overall, 93.1% of participants intended to undergo ECS at their expenses, and 53.6% indicated they would pay less than 1000 CNY (approximately 145 USD) for the test. Around 96.5% of participants had misconceptions about ECS and genetic diseases. Participants whose first reaction was interest, who had prior awareness of the test, or who perceived benefits were more likely to intend to use ECS (p < 0.001). Participants with a bachelor’s degree or above or with a household income over 150,000 CNY (approximately 21,700 USD) would be more likely to pay ≥ 1000 CNY (p < 0.05).

Conclusions

Our study indicates that overall, the Eastern Chinese reproductive-aged population has positive attitudes towards ECS, although there are some misconceptions about ECS and genetic disorders. Population-based ECS appears to be desired by the reproductive-aged people in Eastern China. Steps should be taken to offer ECS along with pre- and post-test education and genetic counseling to raise awareness and to reduce misconceptions.

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Data availability

All data in this study are available from the corresponding author upon reasonable request.

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Acknowledgments

We thank all the participants in this study and are grateful to Mr. Hui Wang from Lianyungang Maternal and Child Health Care Hospital for his assistant in statistical analyses.

Code availability

Not applicable.

Funding

This study was supported by grants from the National Key R&D Program of China (No. 2018YFC1002402), the National Natural Science Foundation of China (Nos. 81770236, 81971398, 81801373, and 81801445), the Natural Science Foundation of Jiangsu Province (No. BK20181121), and the Scientific Research Project of Jiangsu Maternal and Child Health Association (No. FYX202008).

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Correspondence to Ping Hu or Zhengfeng Xu.

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The authors declare that they have no conflict of interest.

Ethics approval

This study was approved by the Research Ethics Committee of the Women’s Hospital of Nanjing Medical University (Number: KY-037).

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Zhang, F., Tan, J., Shao, B. et al. Current attitudes and preconceptions towards expanded carrier screening in the Eastern Chinese reproductive-aged population. J Assist Reprod Genet 38, 697–707 (2021). https://doi.org/10.1007/s10815-020-02032-w

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  • DOI: https://doi.org/10.1007/s10815-020-02032-w

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