Objective
The objective of the study was the evaluation of a novel multiplex assay to detect
fetal Rh blood group D-antigen gene (RHD) loci in maternal plasma from RhD-negative, pregnant women.
Study Design
An RHD genotyping assay was designed to detect exons 4, 5, 7, and 10 and RHDΨ (pseudogene) of the RHD gene along with a Y chromosome–specific assay and a generic polymerase chain reaction
amplification control. Plasma samples from 150 RhD-negative pregnant women were assayed
for fetal RHD genotype using the MassARRAY system.
Results
The fetal RHD status of 148 of 150 samples (98.7%) was correctly classified; 86 (57.3%)
and 62 (41.3%) were positive and negative, respectively.
Conclusion
This study demonstrates that noninvasive prenatal diagnostics with a single-reaction
multiplexed assay is a viable path toward routine characterization of fetal RHD genotypes using circulating cell-free fetal DNA in maternal plasma on the MassARRAY
system and is perhaps preferable to serologic testing as currently used clinically.
Key words
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Article Info
Publication History
Published online: November 19, 2010
Accepted:
September 20,
2010
Received in revised form:
June 30,
2010
Received:
May 24,
2010
Footnotes
Cite this article as: Tynan JA, Angkachatchai V, Ehrich M, et al. Multiplexed analysis of circulating cell-free fetal nucleic acids for noninvasive prenatal diagnostic RHD testing. Am J Obstet Gynecol 2011;204:251.e1-6.
All authors of this article are employees and shareholders of Sequenom Inc or its subsidiaries, and therefore, a potential conflict of interest exists.
Identification
Copyright
© 2011 Mosby, Inc. Published by Elsevier Inc. All rights reserved.
