Archives of Gynecology and Obstetrics

, Volume 279, Issue 4, pp 533–537

High throughput non-invasive determination of foetal Rhesus D status using automated extraction of cell-free foetal DNA in maternal plasma and mass spectrometry

  • Simon Grill
  • Irina Banzola
  • Ying Li
  • Tea Rekhviashvili
  • Tobias J. Legler
  • Sina P. Müller
  • Xiao Yan Zhong
  • Sinuhe Hahn
  • Wolfgang Holzgreve
Original Article

DOI: 10.1007/s00404-008-0774-5

Cite this article as:
Grill, S., Banzola, I., Li, Y. et al. Arch Gynecol Obstet (2009) 279: 533. doi:10.1007/s00404-008-0774-5

Abstract

Purpose

To examine the potential high throughput capability and efficiency of an automated DNA extraction system in combination with mass spectrometry for the non-invasive determination of the foetal Rhesus D status.

Methods

A total of 178 maternal plasma samples from RHD-negative pregnant women were examined, from which DNA was extracted using the automated Roche MagNA Pure™ system. Presence of the foetal RHD gene was detected by PCR for RHD exon 7 and subsequent analysis using the Sequenom MassArray™ mass spectrometric system.

Results

We determined that as little as 15 pg of RHD-positive genomic DNA could be detected in a background of 585 pg of RHD-negative genomic DNA. The analysis of the clinical samples yielded a sensitivity and specificity of 96.1 and 96.1%, respectively.

Conclusion

Our study indicated that automated DNA extraction in combination with mass spectrometry permits the determination of foetal Rhesus D genotype with an accuracy comparable to the current approaches using real-time PCR.

Keywords

Rhesus DRHDMALDI-TOFNon-invasiveSaber assay

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Simon Grill
    • 1
  • Irina Banzola
    • 1
  • Ying Li
    • 1
  • Tea Rekhviashvili
    • 1
  • Tobias J. Legler
    • 2
  • Sina P. Müller
    • 2
  • Xiao Yan Zhong
    • 1
  • Sinuhe Hahn
    • 1
  • Wolfgang Holzgreve
    • 1
    • 3
  1. 1.Department BiomedicineUniversity Women’s HospitalBaselSwitzerland
  2. 2.Department of Transfusion MedicineUniversity of GöttingenGöttingenGermany
  3. 3.Laboratory for Prenatal Medicine and Gynaecological OncologyWomen’s Hospital, University of BaselBaselSwitzerland