title: Noninvasive approaches to prenatal diagnosis of hemoglobinopathies using fetal DNA in maternal plasma.
abstract: 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.
authors.affiliation: Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, 30-32 Ngan Shing Street, Shatin, New Territories, Hong Kong SAR, China. loym@cuhk.edu.hk
authors.forename: Y M Dennis
authors.initials: YM
authors.lastname: Lo
authors.forename: Rossa W K
authors.initials: RW
authors.lastname: Chiu
mesh_terms: D004247:DNA / Q000097:blood* / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity
chemical_list: D004247:DNA