Prenatal Diagnosis of Fetal Hemoglobin Lepore-Boston Disease on Maternal Peripheral Blood

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 β-thalassemia/Hb Lepore disease. Taking advantage of the possibility of amplifying Lepore-specific DNA fragments by polyme...

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Bibliographic Details
Published in:Blood 1990-06, Vol.75 (11), p.2102-2106
Main Authors: Camaschella, Clara, Alfarano, Alda, Gottardi, Enrico, Travi, Maurizio, Primignani, Paola, Cappio, Federico Caligaris, Saglio, Giuseppe
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
DNA - analysis
DNA - genetics
Female
Fetal Blood - analysis
Fetal Blood - cytology
Fetal Hemoglobin
Genetic Markers - analysis
Genetic Markers - blood
Globins - genetics
Gynecology. Andrology. Obstetrics
Hemoglobinopathies - blood
Hemoglobinopathies - diagnosis
Hemoglobinopathies - genetics
Hemoglobins, Abnormal
Humans
Management. Prenatal diagnosis
Medical sciences
Molecular Sequence Data
Polymerase Chain Reaction
Pregnancy
Pregnancy. Fetus. Placenta
Prenatal Diagnosis
Risk Factors
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Summary: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 β-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.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V75.11.2102.2102