title: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Molecular Diagnostics, Sequenom Center for Molecular Medicine, 3595 John Hopkins Ct., San Diego, CA 92121, USA.
authors.forename: John A
authors.initials: JA
authors.lastname: Tynan
authors.forename: Vach
authors.initials: V
authors.lastname: Angkachatchai
authors.forename: Mathias
authors.initials: M
authors.lastname: Ehrich
authors.forename: Toni
authors.initials: T
authors.lastname: Paladino
authors.forename: Dirk
authors.initials: D
authors.lastname: van den Boom
authors.forename: Paul
authors.initials: P
authors.lastname: Oeth
mesh_terms: D000293:Adolescent; D000328:Adult; D004247:DNA / Q000097:blood*; D005260:Female; D005838:Genotype; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D055815:Young Adult
chemical_list: D012204:Rh-Hr Blood-Group System; D004247:DNA