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Objective: To analyze cell-free fetal DNA in maternal plasma for prenatal screening of beta-thalassaemia major.

Methods: Six couples undergoing prenatal diagnosis of beta-thalassaemia (gestational age range 23-26 weeks) were enrolled in this study. The husbands were all carriers of the CD17 (A-->T) mutation, and the wives carried another beta-thalassaemia mutation.

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