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

• 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
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V75.11.2102.2102

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.