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Incidence of haploidy and triploidy in trophectoderm biopsies of blastocysts derived from normally and abnormally fertilized oocytes

  • Genetics
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Abstract

Purpose

We aimed to identify the correlation between morphological pronuclear (PN) status and the genetically determined ploidy configuration in preimplantation embryos.

Methods

A retrospective observational study was conducted on 1982 embryos displaying normal fertilization and 380 embryos showing an atypical PN pattern, tested for aneuploidies and ploidy status via preimplantation genetic testing (PGT) between May 2019 and May 2024. Ploidy prediction was performed using a validated targeted-NGS approach and a proprietary bioinformatic pipeline analyzing SNPs B-allele frequency information. Ploidy results were obtained in relation to the morphological PN pattern and further stratified by mode of PN observation, maternal age, and embryo quality parameters.

Results

Abnormal ploidy results in 2PN-derived embryos were 1% (n = 20/1982): 0.8% showed triploidy and 0.2% haploidy. Ploidy results in relation to PN number in atypical fertilization were as follows: 0PN (n = 150/380) associated with 87.3% of diploidy, 8.7% of haploidy, and 4.0% of triploidy; 1PN-derived blastocysts (n = 73/153) were haploid in 47.7% of cases, 6.5% were triploid, and 45.7% diploid; 2.1PN (n = 23/280) and 3PN patterns (n = 54/280) predicted a triploid result in 34.8% and 74.1% of cases, respectively. PN observation with time-lapse increased ploidy status predictivity from 28.3% to 80.4% (p < 0.01) and reduced expected diploid rates to 19.6% (p < 0.01). Diploidy rate was higher for maternal age ≤ 35 years and for morphologically high-grade embryos.

Conclusion

Morphological PN check can be improved by incorporating ploidy analysis within the conventional PGT workflow. Euploid 2PN-derived embryos can be further selected removing haploids and triploids, and some atypical PN pattern can be better classified.

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Data Availability

The data underlying this article are available in the article and its online supplementary material.

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Acknowledgements

The authors acknowledge Igenomix staff from the R&D, laboratory and diagnosis departments of Italy, Japan, USA, Brazil, and Spain.

Funding

This work was supported by Igenomix.

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Authors and Affiliations

  1. Igenomix Italy, Reproductive Genetics, Marostica, Italy

    Laura Girardi, Cristina Patassini, Francesco Cogo & Paola Zambon

  2. Igenomix Spain Lab S.L.U., Research and Development, Paterna, Spain

    Jose Miravet Valenciano, David Blesa, Jorge Jimenez Almazan & Carmen Rubio

  3. Igenomix Japan, Laboratory of Reproductive Genetics, Tokyo, Japan

    Yoshimi Sato

  4. Igenomix Brazil, Laboratory of Genetic Medicine, São Paulo, Brazil

    Natalia Fagundes Cagnin & Bruno Coprerski

  5. Igenomix R&D, Medical Department, Paterna, Spain

    Jose Antonio Castellón

  6. Igenomix USA, Laboratory of Genetic Medicine, Miami, FL, USA

    Adedoyin Akinwole

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  1. Laura Girardi
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  2. Cristina Patassini
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  3. Jose Miravet Valenciano
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Correspondence to Laura Girardi.

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Girardi, L., Patassini, C., Miravet Valenciano, J. et al. Incidence of haploidy and triploidy in trophectoderm biopsies of blastocysts derived from normally and abnormally fertilized oocytes. J Assist Reprod Genet 41, 3357–3370 (2024). https://doi.org/10.1007/s10815-024-03278-4

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