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Erschienen in: International Journal of Hematology 3/2023

21.07.2023 | Original Article

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

verfasst von: Haijun Li, Jinhua Wang, Degang Wang, Yujie Gan, Yi Xiong

Erschienen in: International Journal of Hematology | Ausgabe 3/2023

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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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Metadaten
Titel
Ten years’ experience in prenatal diagnosis of α-thalassemia in a municipal hospital and retrospective analysis of ultrasonic abnormalities
verfasst von
Haijun Li
Jinhua Wang
Degang Wang
Yujie Gan
Yi Xiong
Publikationsdatum
21.07.2023
Verlag
Springer Nature Singapore
Erschienen in
International Journal of Hematology / Ausgabe 3/2023
Print ISSN: 0925-5710
Elektronische ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-023-03643-6

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