Rapid prenatal diagnosis of sickle cell diseases using oligonucleotide ligation assay coupled with laser-induced capillary fluorescence detection

• Published in: Prenatal diagnosis Vol. 22; no. 8; pp. 686 - 691
• Main Authors: Day, Nancy S., Tadin, Marija, Christiano, Angela M., Lanzano, Patricia, Piomelli, Sergio, Brown, Stephen
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.08.2002; Wiley
• Subjects: Anemia, Sickle Cell - blood; Anemia, Sickle Cell - diagnosis; Anemia, Sickle Cell - genetics; Anemias. Hemoglobinopathies; Base Sequence; Biological and medical sciences; Deoxyuracil Nucleotides; Diseases of red blood cells; DNA - chemistry; DNA Ligases - metabolism; Electrophoresis, Capillary - methods; Female; fluorescent capillary electrophoresis; Genotype; Globins - genetics; Gynecology. Andrology. Obstetrics; Hematologic and hematopoietic diseases; Hemoglobin A - genetics; Hemoglobin C - genetics; Hemoglobin, Sickle - genetics; Humans; Management. Prenatal diagnosis; Medical sciences; Molecular Sequence Data; oligonucleotide ligation; Oligonucleotides - metabolism; Point Mutation; Polymerase Chain Reaction; Pregnancy; Pregnancy. Fetus. Placenta; prenatal diagnosis; Prenatal Diagnosis - methods; Sensitivity and Specificity; sickle cell; Templates, Genetic; Human; Hemoglobinopathy; Amniocentesis; Sickle cell anemia; Linkage; Laser induced fluorescence; Hemopathy; Medical screening; Genetic disease; Blood plasma; Prenatal; Polymerase chain reaction; Hemolytic anemia; Mother; DNA; Chorionic villi sampling; Fetus; Oligonucleotide; Diagnosis; Technique; Molecular biology
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.380

Prenatal diagnosis of sickle cell diseases has been available for several years, and our laboratory has performed over 1000 prenatal diagnoses. However, currently available techniques are labor‐intensive and time‐consuming, and thus the diagnosis is delayed, making the mother's decision difficult. We describe a rapid, high‐throughput technique based on the ligation assay coupled with automated capillary fluorescence detection. This new approach allows the diagnosis of both Hgb S and Hgb C to be available in a few hours. We have utilized this technique in 30 prenatal diagnoses and found it to be in complete agreement with the standard diagnoses. Copyright © 2002 John Wiley & Sons, Ltd.