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Objectives: It was the aim of this study to investigate the feasibility of polymerase chain reaction (PCR)/ligase detection reaction (LDR)/capillary electrophoresis for the detection of paternally inherited fetal CD17 (A→T) mutation of β-thalassemia in maternal plasma. Methods: The target DNA in maternal plasma was amplified by PCR and the mutant signal was detected by LDR. Unique LDR products were produced and separated by capillary electrophoresis. PCR/LDR/capillary electrophoresis was applied to detect CD17 (A→T) mutation in an experimental model at different sensitivity levels and from 3 maternal plasma samples. Results: The sensitivity of PCR/LDR/capillary electrophoresis for detecting low-abundance CD17 (A→T) mutation was 1:5,000 at least. The technique was applied in maternal plasma DNA for detecting paternally inherited fetal CD17 (A→T) mutation, and the results were concordant with that of PCR/reverse dot blot of amniotic fluid cell DNA. Conclusions: PCR/LDR/capillary electrophoresis has a very high sensitivity to distinguish low-abundance single nucleotide differences and probably detects paternally inherited fetal point mutations in maternal plasma. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]