title: Non-invasive prenatal detection of paternal origin hb lepore in a male fetus at the 7th week of gestation.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Laboratory of Human Reproductive Genetics, Department of Obstetrics and Gynaecology, Medical School, University of Ioannina, Ioannina, Greece.
authors.forename: Leandros
authors.initials: L
authors.lastname: Lazaros
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Hatzi
authors.forename: Ioanna
authors.initials: I
authors.lastname: Bouba
authors.forename: Evangelos
authors.initials: E
authors.lastname: Paraskevaidis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Georgiou
mesh_terms: D000328:Adult; D041322:Chromosomes, Human, Y; D005260:Female; D005865:Gestational Age; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D025202:Molecular Diagnostic Techniques; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D006455:Hemoglobins, Abnormal; C037659:hemoglobin Lepore