The application of PGT-A for carriers of balanced structural chromosomal rearrangements

Fodina Violeta, Dudorova Alesja, Alksere Baiba, Dzalbs Aigars, Vedmedovska Natalija, Andersone Santa, Conka Una, Erenpreiss Juris, Berzina Dace

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)
38 Downloads (Pure)


The aim of this study was to analyze differences in chromosomal aberrations and euploidy in embryos of each translocation type and gender of carrier in the case series of 10 couples with balanced translocations who underwent IVF with embryos trophectoderm (TE) biopsy and PGT-A to detect chromosomal aberrations. This is a Case Series (Retrospective study). In each case, controlled ovarian hyperstimulation, oocyte insemination with intracytoplasmic sperm injection (ICSI) and cultivation gave multiple blastocysts, that underwent trophectoderm (TE) biopsy with PGT-A analysis using aCGH and NGS. Number of total unbalanced translocations compared to the number of sporadic aneuploid embryos was 39.6% to 39.6% (50% to 50% of all 37 aneuploid embryos). The highest euploidy rate was in male carrier group–26.7% and the lowest in the Robertsonian translocation carrier group–18.2%. Sporadic aneuploidy–68.2% was highest in Robertsonian translocation carrier group and lowest in female group–11.1%. Chromosomal aberrations related to translocation were highest in female carrier group–77.8% and lowest in Robertsonian translocation carrier group–13.6%. Our study showed that expectancy of total embryo aneuploidy rates will be higher in carriers, than in people with normal karyotype. The prevalence of chromosomal aberrations related to translocation was 4.5 times higher in Reciprocal carrier group than in Robertsonian translocation carrier group. Among maternal and paternal carrier groups, the embryos from female carriers had the lowest euploidy rate, unbalanced translocation rate 4.7 times higher than in the male carrier group and higher total aneuploidy rates.
Original languageEnglish
Pages (from-to)18-23
Number of pages6
JournalGynecological Endocrinology
Issue numbersup1
Publication statusPublished - 31 Jul 2019


  • IVF
  • PGT-A
  • Robertsonian translocation
  • balanced chromosomal translocations
  • embryo aneuploidy
  • reciprocal translocation

Field of Science*

  • 3.1 Basic medicine
  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database


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