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Semin Reprod Med 2014; 32(02): 100-106
DOI: 10.1055/s-0033-1363551
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Embryo Biopsy for Aneuploidy Detection in the General Infertility Population

Daniel J. Kaser
1   Division of Reproductive Medicine, Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts
,
Elizabeth S. Ginsburg
1   Division of Reproductive Medicine, Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts
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Publication History

Publication Date:
10 February 2014 (online)

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Abstract

Since report of the first live birth following preimplantation genetic screening (PGS) in 1995, the procedure and available technologies for aneuploidy detection have rapidly evolved. Through these efforts, the biology of meiotic and mitotic segregation errors has been partially elucidated. A process that began with polar body biopsy and four-color fluorescence in situ hybridization to detect copy number in a limited number of chromosomes is now hardly recognizable: current molecular methods permit high-density screening of the entire human genome for copy number variants, structural rearrangements, microdeletions, and polyploids to a resolution of 35 kilobases in less than 48 hours. Indeed, with the advent of real-time quantitative analyses of ploidy status that allow same-day trophectoderm biopsy with fresh transfer of a euploid blastocyst, the future is bright for PGS. Questions remain about how best to safely offer this technology to patients, and which patients, if any, will benefit from routine biopsy. Herein, we will review the limited available evidence for application of PGS in the general infertility population as an adjunct method to optimize live birth rates.

Keywords

aneuploidy - comprehensive chromosome screening - fluorescence in situ hybridization - preimplantation genetic screening - trophectoderm biopsy
 

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