Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes.

@article{Gross2011RapidAN,
  title={Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes.},
  author={Susan J Gross and Komal Bajaj and David Garry and Susan D. Klugman and Barry M Karpel and Anne Marie Roe and Brian John Wagner and Jenny Zhan and Stephen D Apfelroth and Nicole Schreiber-Agus},
  journal={Prenatal diagnosis},
  year={2011},
  volume={31 3},
  pages={
          259-66
        }
}
OBJECTIVES To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectively determine the performance of the platform under routine clinical conditions. METHODS To generate proxies for the various disorders assessed by the assay for analytical validation purposes, cells from ten microdeletion syndromes as well as from common aneuploidies were spiked into cleared… CONTINUE READING
BETA

Similar Papers

Citations

Publications citing this paper.
SHOWING 1-10 OF 11 CITATIONS

BACs-on-beads: a new robust and rapid detection method for prenatal diagnosis.

  • Expert review of molecular diagnostics
  • 2014
VIEW 3 EXCERPTS
CITES METHODS & BACKGROUND
HIGHLY INFLUENCED

Prenatal BoBsTM in the cytogenetic analysis of products of spontaneous miscarriage.

  • South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
  • 2015

References

Publications referenced by this paper.
SHOWING 1-10 OF 32 REFERENCES

Diagnostic genome profiling in mental retardation.

  • American journal of human genetics
  • 2005
VIEW 1 EXCERPT
HIGHLY INFLUENTIAL

BACS on BEADS for rapid detection of fetal microdeletionis and aneuploidies: validation study on prenatal samples

FR Grati, S De Toffel, L Marcato
  • ISPD Conference (Amsterdam),
  • 2010
VIEW 1 EXCERPT

Array comparative genomic hybridization in prenatal diagnosis . American College of Obstetricians and Gynecologists

A Aviram-Goldring, M Daniely, H Dorf
  • Obstet Gynecol
  • 2009

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

IB Van den Veyver, A Patel, CA Shaw
  • Prenat Diagn
  • 2009
VIEW 1 EXCERPT