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Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region, China

  • Maternal-Fetal Medicine
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Purpose

The aim of this study was to establish a comprehensive prenatal diagnosis service and to control the birth of thalassemia children in Guangxi Zhuang Automonous Region, China.

Methods

Prenatal diagnosis was performed in 1,058 couples with ‘at risk’ β-thalassemia from Guangxi Zhuang Automonous Region. Fetal samplings were collected by chorionic villus sampling in the first trimester, by amniocentesis in the second trimester and by cordocentesis in the third trimester. DNA analysis was carried out using polymerase chain reaction, reverse dot blot assay, multiplex ligation-dependent probe amplification method and DNA sequencing. Automated high-performance liquid chromatography system was used to analyze the fetal hemoglobin in pregnancies in case mutations were unidentified.

Results

A total of 12 different β-thalassemia mutations were characterized from 2,116 parents. The most common mutation for β-thalassemia was CD41–42 (-CTTT) followed by CD17 (A→T). Prenatal testing revealed 315 normal fetuses, 500 carriers and 253 β-thalassemia major fetuses. The couples having fetuses with β-thalassemia major were counselled to terminate the pregnancies. Postnatal follow-up confirmed all pregnancies.

Conclusion

Our prenatal diagnosis strategy proved to be highly effective in reducing severe thalassemia in pregnant populations.

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Acknowledgments

We thank all subjects for participating in our study. The project was partially supported by a grant from the Health Department of Guangxi Province (2012020).

Conflict of interest

All authors declare no conflict of interest.

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Authors and Affiliations

  1. Prenatal Diagnostic Center, Guangxi Zhuang Automonous Region Women and Children Care Hospital, 225 Xinyang Road, Naning, 530033, People’s Republic of China

    Sheng He, Dongming Li, Yunli Lai, Qiang Zhang, Ting Que, Yanqing Tang & Chenguang Zheng

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  1. Sheng He
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  2. Dongming Li
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  3. Yunli Lai
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  4. Qiang Zhang
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  5. Ting Que
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  6. Yanqing Tang
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  7. Chenguang Zheng
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Corresponding author

Correspondence to Chenguang Zheng.

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He, S., Li, D., Lai, Y. et al. Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region, China. Arch Gynecol Obstet 289, 61–65 (2014). https://doi.org/10.1007/s00404-013-2941-6

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  • DOI: https://doi.org/10.1007/s00404-013-2941-6

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