Noninvasive Approaches to Prenatal Diagnosis of Hemoglobinopathies Using Fetal DNA in Maternal Plasma

• Published in: Hematology/oncology clinics of North America Vol. 24; no. 6; pp. 1179 - 1186
• Main Authors: Lo, Y.M. Dennis, DM, DPhil, Chiu, Rossa W.K., MBBS, PhD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-12-2010
• Subjects: Circulating nucleic acids; Digital PCR; DNA - blood; DNA - genetics; DNA Mutational Analysis - methods; Female; Fetal Diseases - diagnosis; Fetal Diseases - genetics; Hematology, Oncology and Palliative Medicine; Hemoglobinopathies - diagnosis; Hemoglobinopathies - genetics; Humans; Noninvasive prenatal diagnosis; Plasma DNA; Pregnancy; Prenatal Diagnosis - methods; Sensitivity and Specificity; β-Thalassemia; Circulating nucleic acids; Digital PCR; Noninvasive prenatal diagnosis; β-Thalassemia; Plasma DNA
• ISSN: 0889-8588; 1558-1977
• DOI: 10.1016/j.hoc.2010.08.007

Fetal DNA is present in the plasma of pregnant women and can be used for noninvasive prenatal diagnosis. Early work had focused on the detection of paternally inherited fetal mutations in maternal plasma. Recent advances in single-molecule counting approaches have allowed the mutation dosage of the fetus to be analyzed in maternal plasma. These developments have been demonstrated as feasible for noninvasive prenatal diagnosis of several hemoglobinopathies, including β-thalassemia and hemoglobin E disease.