Objective: To perform a reliable non-invasive prenatal detection of the Hb Lepore paternal mutation and determine the fetal gender in the first trimester of pregnancy.
Methods: DNA was extracted from a serum sample obtained from a pregnant woman at the mid first trimester of gestation. Hb Lepore-specific, mutant and normal, primers as well as Y-chromosome-specific STSs were used to carry out the analysis.
Results: Paternal Hb Lepore and the DYS14 and DYZ1 gene-specific sequences were detected in the serum sample obtained at the 7th week of pregnancy. None of the above sequences was detectable in the maternal peripheral blood cell DNA.
Conclusion: Conventional polymerase chain reaction analysis of cell-free fetal DNA can be used to determine fetal gender and paternal Hb Lepore as early as the 7th week of pregnancy.