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The impact of patient, embryo, and translocation characteristics on the ploidy status of young couples undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) by next generation sequencing (NGS)

  • Genetics
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Abstract

Purpose

To evaluate the factors that affect the incidence of euploid balanced embryos and interchromosomal effect (ICE) in carriers of different structural rearrangements.

Methods

This retrospective study includes 95 couples with reciprocal translocations (RecT) and 36 couples with Robertsonian translocations (RobT) undergoing Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) between March 2016 and July 2019. Next-generation sequencing (NGS) was the technique used coupled with trophectoderm (TE) biopsy. Only cases with females under 38 years were included. A total of 532 blastocysts were evaluated.

Results

The euploidy rate was similar in RobT when compared with RecT carriers [57/156 (36.5%) vs. 112/376 (29.8%), p = 0.127]. The pure ICE rate was significantly higher in RobT carriers [48/156 (30.8%) vs. 53/376 (14.1%), p < 0.001] than it was in RecT carriers. Female age was the independent factor for the probability of obtaining a euploid embryo in RecT and RobT carriers, and increasing female age decreases the probability of obtaining a euploid embryo. In RecT carriers, no significant differences were observed in euploidy rates, pure ICE, or combined ICE according to the length of the translocated fragment and the chromosome group. However, total ICE was significantly lower when there was a breakpoint in the short chromosome arm together with a breakpoint in the long arm [(44/158 (27.8%) for pq or qp, 51/155 (32.9%) for pp and 30/63 (47.6%) for qq; p = 0.02].

Conclusion

The incidence of euploid/balanced blastocysts was similar in both types of translocations. However, there was a significant increase in pure ICE in RobT compared to RecT carriers. In RecT carriers, the presence of the breakpoints in the long arm of the chromosomes involved in the rearrangement resulted in a higher total ICE.

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Authors and Affiliations

  1. Bahceci Health Group, Hakki Yeten cad. No: 11 Terrace Fulya, Fulya, Istanbul, Turkey

    Fazilet Kubra Boynukalin, Meral Gultomruk, Niyazi Emre Turgut, Selen Ecemis, Guvenc Karlikaya, Necati Findikli & Mustafa Bahceci

  2. IGENOMIX, Calle Narcís Monturiol Estarriol no. 11 Parcela B, Edificio Europark, Parque Tecnológico de Paterna, 46980, Paterna, Valencia, Spain

    Carmen Rubio & Lorena Rodrigo

  3. Department of Statistics, Cyprus Science University, Dr. Fazil Kucuk Cad., 99320, Ozankoy, Cyprus

    Zalihe Yarkiner

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Boynukalin, F.K., Gultomruk, M., Turgut, N.E. et al. The impact of patient, embryo, and translocation characteristics on the ploidy status of young couples undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) by next generation sequencing (NGS). J Assist Reprod Genet 38, 387–396 (2021). https://doi.org/10.1007/s10815-020-02054-4

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