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Ten years’ experience in prenatal diagnosis of α-thalassemia in a municipal hospital and retrospective analysis of ultrasonic abnormalities

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Abstract

Objective

This study reviewed and analyzed the prenatal diagnosis experience of thalassemia in our center over the past decade and the abnormal ultrasonic characteristics of fetuses with hemoglobin (Hb) Bart’s hydrops fetalis.

Methods

Pregnant women and their partners who tested positive for α0-thalassemia or were diagnosed with thalassemia intermedia (HbH diseases) underwent genetic counseling, and a prenatal diagnostic procedure for α-thalassemia was recommended. Ultrasonography was performed before prenatal diagnosis.

Results

Invasive prenatal α-thalassemia diagnosis and ultrasonography were performed in 1049 patients at risk for Hb Bart’s hydrops fetalis syndrome at our hospital from 2012 to 2021. Chorionic villus sampling (CVS) was performed in 58 cases (5.5%), amniocentesis in 902 cases (86%), and cordocentesis in 89 cases (8.5%). Hb Bart’s hydrops fetalis syndrome was diagnosed in 280 fetuses. The most common body cavity effusion was pericardial effusion, ascites, and fetal systemic edema.

Conclusions

The extensive experience at our center shows that carrier screening, molecular diagnostics, genetic counseling, and prenatal diagnosis are effective measures to prevent Hb Bart’s hydrops fetalis syndrome. The ultrasonographic abnormalities in fetuses with Hb Bart’s hydrops are mainly caused by an increase in cardiac output, which leads to the body cavity effusion from various organs.

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Data availability

All data in this article is available through personal communication with the the corresponding author.

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Funding

This study was supported by a research grant from the Zhongshan Science and Technology Bureau (Nos. 2020B1057, 2021B1084, 2021B3003, and 2022B1022).

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Authors and Affiliations

  1. Prenatal Diagnosis Center, Boai Hospital of Zhongshan, 6 Chenggui Rd., Zhongshan, 528400, Guangdong, China

    Haijun Li, Jinhua Wang, Degang Wang, Yujie Gan & Yi Xiong

  2. Department of Obstetrics and Gynecology, Boai Hospital of Zhongshan Affiliated to Southern Medical University, 6 Chenggui Rd., Zhongshan, 528400, Guangdong, China

    Yujie Gan

Authors
  1. Haijun Li
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  2. Jinhua Wang
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  3. Degang Wang
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  4. Yujie Gan
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  5. Yi Xiong
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Corresponding authors

Correspondence to Yujie Gan or Yi Xiong.

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Li, H., Wang, J., Wang, D. et al. Ten years’ experience in prenatal diagnosis of α-thalassemia in a municipal hospital and retrospective analysis of ultrasonic abnormalities. Int J Hematol 118, 355–363 (2023). https://doi.org/10.1007/s12185-023-03643-6

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  • DOI: https://doi.org/10.1007/s12185-023-03643-6

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