Non-invasive prenatal detection of paternal origin hb lepore in a male fetus at the 7th week of gestation.
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.
Lazaros
Leandros
L
Laboratory of Human Reproductive Genetics, Department of Obstetrics and Gynaecology, Medical School, University of Ioannina, Ioannina, Greece.
Hatzi
Elisabeth
E
Bouba
Ioanna
I
Paraskevaidis
Evangelos
E
Georgiou
Ioannis
I
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*
D006455:Hemoglobins, Abnormal; C037659:hemoglobin Lepore