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Science & Society

Technology versus biology: the limits of pre‐implantation genetic screening

Better methods to detect the origin of aneuploidy in pre‐implantation embryos could improve the success rate of artificial reproduction
View ORCID ProfileEli Y Adashi, Rajiv C McCoy
DOI 10.15252/embr.201743941 | Published online 29.03.2017
EMBO reports (2017) 18, 670-672
Eli Y Adashi
The Warren Alpert Medical School, Brown University, Providence, RI, USA
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Rajiv C McCoy
Department of Genome Sciences, University of Washington, Seattle, WA, USA
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Author Affiliations

  1. Eli Y Adashi (eli_adashi{at}brown.edu)1 and
  2. Rajiv C McCoy2
  1. 1The Warren Alpert Medical School, Brown University, Providence, RI, USA
  2. 2Department of Genome Sciences, University of Washington, Seattle, WA, USA
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Assisted reproductive technologies (ART) have become the standard of care for the treatment of infertility. Within this realm, reliable prediction of the developmental potential of the pre‐implantation human embryo remains an overriding priority. One such technology, pre‐implantation genetic screening (PGS), is being increasingly deployed to select against embryonic aneuploidy [1]. However, a growing number of seemingly contradictory outcome reports are forcing a reevaluation of this approach. Here, we discuss how biological factors, notably mitotic aneuploidy during early embryonic development, limit the very rationale for PGS as a clinical diagnostic method.

… PGS is an example of technology compromised by biology

The development of safe and efficient methods to select healthy euploid embryos constitutes a pressing need to improve the success of ART. PGS, as one strategy to achieve this, relies on the ploidy status of the trophectoderm layer of the blastocyst‐stage embryo [1] (Table 1). Considerable numbers of patients are undergoing PGS: In the USA alone, more than 5% of 106,902 non‐donor assisted reproduction cycles resorted to PGS during 2011 and 2012 [2]. However, the capacity of PGS to select euploid embryos has recently been questioned by the birth of healthy newborns whose originating blastocysts were deemed mosaic (euploid–aneuploid) [3]. Similar inconsistencies have previously been reported for euploid human embryonic stem cell lines, which have been derived from purportedly aneuploid blastocysts. We suggest herein that the utility of PGS is undermined by innate karyotypic mosaicism, the ontogeny and significance of which in early human development remain uncertain. Viewed in this light, PGS is an example of technology compromised by biology. It follows that the ability of PGS to reliably predict the ploidy status of the human embryo and its developmental potential is limited.

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Table 1. Blastocyst developmental potential as inferred from the PGS biopsy ploidy status

The causes of embryonic aneuploidy

Following fertilization and karyogamy, the human zygote undergoes 8–9 …

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Volume 18, Issue 5
01 May 2017 | pp 659 - 857
EMBO reports: 18 (5)
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