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  • Title: [Cell-free fetal DNA detection in maternal plasma using real-time PCR and cycling probe technology for prenatal screening beta-thalassaemia major].
    Author: Chen X, Ren JH, Guo H, Lin LH, Yao QX.
    Journal: Nan Fang Yi Ke Da Xue Xue Bao; 2008 Jul; 28(7):1210-3. PubMed ID: 18676265.
    Abstract:
    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. The allele-specific primers and two fluorescent cycling probes were synthesized for the detection of the CD17 (A-->T) mutation, using FAM and HEX fluorescence labeling, respectively. The cell-free fetal DNA in the maternal plasma was detected using real-time PCR, and the fetal genotype was confirmed by cord blood conventional prenatal diagnosis. RESULTS: In the 6 pregnancies, FAM and HEX fluorescent signals were detected in 3 maternal plasma samples; in the other 3 samples, only FAM fluorescent signals were detected, suggesting the absence of paternally derived CD17 (A-->T) mutation. CONCLUSION: Examination of cell-free fetal DNA in maternal plasma using real-time PCR and cycling probe technology can be effective means for prenatal screening of beta-thalassaemia major.
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