Noninvasive approaches to prenatal diagnosis of hemoglobinopathies using fetal DNA in maternal plasma

Y M Dennis Lo; Rossa W K Chiu

doi:10.1016/j.hoc.2010.08.007

Noninvasive approaches to prenatal diagnosis of hemoglobinopathies using fetal DNA in maternal plasma

Hematol Oncol Clin North Am. 2010 Dec;24(6):1179-86. doi: 10.1016/j.hoc.2010.08.007. Epub 2010 Sep 29.

Authors

Y M Dennis Lo¹, Rossa W K Chiu

Affiliation

¹ 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

PMID: 21075287
DOI: 10.1016/j.hoc.2010.08.007

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.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

DNA / blood*
DNA / genetics
DNA Mutational Analysis / methods
Female
Fetal Diseases / diagnosis*
Fetal Diseases / genetics
Hemoglobinopathies / diagnosis*
Hemoglobinopathies / genetics
Humans
Pregnancy
Prenatal Diagnosis / methods*
Sensitivity and Specificity

Substances

DNA