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Abstract Objective: To explore the applicable scheme and the clinical significance for prevention of thalassemia by analyzing results of the screening and prenatal diagnosis on thalassemia with doubtful fetal in Guangzhou. Methods: A total of 257 pregnant women who were α- or β- thalassemia gene carrier were performed amniocentesis to test the fetus' thalassemia gene from 2010 to 2012. Fetus of all respondents were followed up after delivery. Results: In 257 cases, there were 10 Hb Bart's hydrops fetus, 20 HbH cases, 14 severe β-thalassemia cases, 2 intermeditate β-thalassemia cases, 109 α-thalassemia carriers, 30 β-thalassemia carriers, 12 co-inheritance of α- and β-thalassemia cases (including 1 severe αβ compound thalassemia fetus), and 60 normal fetuses. Results of postpartum follow-up were consistent with those of prenatal diagnosis. Conclusion: The birth of children with severe thalassemia could be prevented effectively and the quality of population could be increased by prenatal diagnosis.
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