Multiplexed analysis of circulating cell-free fetal nucleic acids for noninvasive prenatal diagnostic RHD testing.

Abstract:

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.

journal_name

Am J Obstet Gynecol

authors

Tynan JA,Angkachatchai V,Ehrich M,Paladino T,van den Boom D,Oeth P

doi

10.1016/j.ajog.2010.09.028

subject

Has Abstract

pub_date

2011-03-01 00:00:00

pages

251.e1-6

issue

3

eissn

0002-9378

issn

1097-6868

pii

S0002-9378(10)01175-0

journal_volume

204

pub_type

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