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

Susan J. Gross, Komal Bajaj, David Garry, Susan D. Klugman, Barry M. Karpel, Anne Marie Roe, Brian J. Wagner, Jenny Zhan, Stephen D. Apfelroth, Nicole Schreiber-Agus

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

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 amniotic fluid. Genomic DNA was isolated, labeled, and hybridized to microbeads that have been coupled to DNA derived from Bacterial Artificial Chromosome (BAC) from the relevant regions targeted by the array. Beads were read using a flow cytometric multiplex bead array detection system. In the prospective part of the study, 104 amniotic fluid samples were collected and analyzed. +Results: All microdeletion syndromes and aneuploidies were validated in a blinded fashion. In the prospective study, the total number of readable samples was 101 of 104 (97%). All sample results were confirmed independently. +Conclusion: The bead array approach is a rapid and reliable test for detecting aneuploidies and microdeletions. This assay has the potential to provide the benefit of expanded molecular cytogenetic testing to pregnant women undergoing invasive prenatal diagnosis. This approach may be especially useful in parts of the world where cytogenetic personnel and facilities may be limited.

Original languageEnglish (US)
Pages (from-to)259-266
Number of pages8
JournalPrenatal Diagnosis
Volume31
Issue number3
DOIs
StatePublished - Mar 2011

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Aneuploidy
Amniotic Fluid
Cytogenetics
Prospective Studies
Bacterial Artificial Chromosomes
DNA
Proxy
Prenatal Diagnosis
Microspheres
Pregnant Women

Keywords

  • Molecular cytogenetics
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

Cite this

Gross, S. J., Bajaj, K., Garry, D., Klugman, S. D., Karpel, B. M., Marie Roe, A., ... Schreiber-Agus, N. (2011). Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes. Prenatal Diagnosis, 31(3), 259-266. https://doi.org/10.1002/pd.2674

Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes. / Gross, Susan J.; Bajaj, Komal; Garry, David; Klugman, Susan D.; Karpel, Barry M.; Marie Roe, Anne; Wagner, Brian J.; Zhan, Jenny; Apfelroth, Stephen D.; Schreiber-Agus, Nicole.

In: Prenatal Diagnosis, Vol. 31, No. 3, 03.2011, p. 259-266.

Research output: Contribution to journalArticle

Gross, SJ, Bajaj, K, Garry, D, Klugman, SD, Karpel, BM, Marie Roe, A, Wagner, BJ, Zhan, J, Apfelroth, SD & Schreiber-Agus, N 2011, 'Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes', Prenatal Diagnosis, vol. 31, no. 3, pp. 259-266. https://doi.org/10.1002/pd.2674
Gross, Susan J. ; Bajaj, Komal ; Garry, David ; Klugman, Susan D. ; Karpel, Barry M. ; Marie Roe, Anne ; Wagner, Brian J. ; Zhan, Jenny ; Apfelroth, Stephen D. ; Schreiber-Agus, Nicole. / Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes. In: Prenatal Diagnosis. 2011 ; Vol. 31, No. 3. pp. 259-266.
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