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Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes
Author(s) -
Gross Susan J.,
Bajaj Komal,
Garry David,
Klugman Susan,
Karpel Barry M.,
Marie Roe Anne,
Wagner Brian J.,
Zhan Jenny,
Apfelroth Stephen D.,
SchreiberAgus Nicole
Publication year - 2011
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.2674
Subject(s) - aneuploidy , amniotic fluid , multiplex , prenatal diagnosis , products of conception , medicine , biology , obstetrics , chromosome , bioinformatics , genetics , pregnancy , fetus , gestation , gene
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 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. Copyright © 2011 John Wiley & Sons, Ltd.