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Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal
peripheral blood
C Camaschella, A Alfarano, E Gottardi, M Travi, P Primignani, F Caligaris Cappio and G Saglio
Dipartimento di Scienze Biomediche e Oncologia Umana, Universita di Torino,
Italy.
Molecular diagnosis of hemoglobin (Hb) Lepore-Boston in the fetus was
successfully accomplished using maternal blood as a source for fetal cells
in three pregnancies at risk for beta-thalassemia/Hb Lepore disease. Taking
advantage of the possibility of amplifying Lepore- specific DNA fragments
by polymerase chain reaction and of families in which Hb Lepore was
inherited by the paternal side, we demonstrated in two cases and excluded
in one case the presence of this hemoglobinopathy in the fetus directly on
maternal DNA. The diagnosis was concordant with that obtained by
traditional approaches in all three cases. Our results unequivocally show
that nucleated fetal cells are present in maternal blood during pregnancy,
and demonstrate for the first time that prenatal diagnosis of a genetic
disease may be feasible without invasive procedures.
Volume 75,
Issue 11,
pp. 2102-2106,
06/01/1990
Copyright © 1990 by The American Society of Hematology
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