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PLoS One. 2018 Aug 22;13(8):e0201652. doi: 10.1371/journal.pone.0201652. eCollection 2018.

Clinical reassessment of human embryo ploidy status between cleavage and blastocyst stage by Next Generation Sequencing.

Author information

IVF Laboratory, IVIRMA Middle-East Fertility Clinic, Abu Dhabi, United Arab Emirates.
IVF department, IVIRMA Middle East Fertility Clinic, Abu Dhabi, United Arab Emirates.
Obstetrical Department, Women´s University Hospital Tuebingen, Tuebingen, Germany.
Igenomix, Valencia, Spain.
Igenomix, Dubai, UAE.


One of the most important limitations of genetic testing in preimplantation embryos is embryonic mosaicism, especially when performed on D3 with only a single blastomere evaluated. Previous publications, using Array-Comparative Genomic Hybridization (a-CGH) to compare day 3 (D3) biopsies versus trophectoderm biopsies for the analysis of aneuploid embryos, showed similar high concordance rates per embryo diagnosis for D3 biopsies and trophectoderm biopsies. Next generation sequencing (NGS) was introduced lately as a new technique for preimplantation genetic testing for aneuploidies (PGT-A). Using this technique, this retrospective descriptive study evaluated the degree of the concordance of the diagnosis between preimplantation human cleavage stage (D3) and blastocyst stage (D5) embryos. Double biopsies on D3 and D5 were performed on 118 embryos, reaching blastocyst stage on D5 and had not been selected for transfer. As the fertilization law of the United Arab Emirates does not allow embryo freezing, also surplus euploid embryos after D 3 biopsy were included. Analysis of the NGS results from D3 and D5 embryo biopsies showed a total concordance rate per embryo diagnosis of 85.6% for euploid and aneuploid embryos. The concordance rates per embryo chromosomal pattern for embryo diagnosed as aneuploid at both biopsy stages was 82.2%. However, the status regarding the affected chromosomes was not identical on D3 and D5. Hence, the total concordance rate between D3 biopsy and D5 biopsy was limited to 67.8%. This current study clearly demonstrated that the concordance rates between D3 and D5 biopsies in aneuploid and euploid embryos are lower than previously reported.

Conflict of interest statement

The authors have the following interests. This study was supported by Igenomix, the employer of Carmen Rubio and Rupali Chopra. Both co-authors participated in the design and in the blinded analysis of the samples, however the final data collection and statistical analysis of the results, as well as the decision to publish was taken by A.L., B.L and H.F. There are no patents, products in development or marketed products to declare. This does not alter the authors' adherence to all the PLOS ONE policies on sharing data and materials, as detailed online in the guide for authors.

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