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Confirmation rates of array-CGH in day-3 embryo and blastocyst biopsies for preimplantation genetic screening

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

The purpose of this study was to compare the confirmation rate of day-3 embryo biopsy (blastomere) and trophectoderm biopsy using array-comparative genomic hybridization (array-CGH) technology.

Methods

A blinded study was conducted to re-analyse 109 embryos previously diagnosed as chromosomally abnormal by array-CGH. Preimplantation genetic screening (PGS) was performed using array-CGH on day 3 (n = 50) or day 5 (n = 59). Partial chromosome gains or losses were excluded (n=6), and only whole chromosome aneuploidies were considered. Re-analysis of whole blastocysts was carried out following the same array-CGH protocol used for PGS.

Results

The PGS result was confirmed in the whole blastocyst in (a) 49/50 (98 %) abnormal embryos after day-3 biopsy and (b) 57/59 (96.6 %) abnormal embryos after trophectoderm biopsy. One embryo (1/50; 2 %) was diagnosed as abnormal, with monosomy 18, on day 3, and software analysis of the whole blastocyst gave a euploid result; however, a mosaic pattern was observed for monosomy 18 in the whole blastocyst. Two trophectoderm biopsy cases (3.4 %) did not have the abnormalities (trisomy 7, and trisomy 1 and 4, respectively) verified in the whole embryo. Concordance rates for both biopsy strategies and for individual chromosomes were evaluated by Fisher’s exact test and showed no significant differences.

Conclusions

Both types of biopsies showed similar high concordance rates with whole blastocyst results. Therefore, regarding the confirmation rates shown in this work, day-3 embryo biopsies can be representative of the whole embryo and both types of biopsy can be used for clinical analysis in PGS following the described array-CGH protocol.

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Author information

Authors and Affiliations

  1. IGENOMIX, Parc Científic de la Universitat de Valéncia, C/Catedrático Agustín Escardino, 9, 46980, Paterna, Valencia, Spain

    P. Mir, E. Mateu, L. Rodrigo, M. Vera, V. Peinado, M. Milán-Sánchez, I. Campos-Galindo, S. García-Herrero, C. Simón & C. Rubio

  2. IVI-Valencia, Pza.Policía Local, 3, 46015, Valencia, Valencia, Spain

    A. Mercader, C. Simón & C. Rubio

  3. IVI-Zaragoza, Poetisa María Zambrano, 31, 50018, Zaragoza, Spain

    R. Herrer

Authors
  1. P. Mir
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  2. E. Mateu
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  3. A. Mercader
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  4. R. Herrer
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  5. L. Rodrigo
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  6. M. Vera
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  7. V. Peinado
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  8. M. Milán-Sánchez
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  9. I. Campos-Galindo
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  10. S. García-Herrero
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  11. C. Simón
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  12. C. Rubio
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Corresponding author

Correspondence to P. Mir.

Ethics declarations

The present study has been approved by the CEIC (Spanish ethical committee of clinical investigation). It is a biomedical study not implying any contact with human beings (only embryo biopsies); moreover, in this blinded study, all the samples were anonymized before re-analysis.

Additional information

Capsule Similar false positive rate of array-CGH technique applied to preimplantation genetic screening on day-3 and trophectoderm embryo biopsies.

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Mir, P., Mateu, E., Mercader, A. et al. Confirmation rates of array-CGH in day-3 embryo and blastocyst biopsies for preimplantation genetic screening. J Assist Reprod Genet 33, 59–66 (2016). https://doi.org/10.1007/s10815-015-0605-0

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  • DOI: https://doi.org/10.1007/s10815-015-0605-0

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