The impact of balanced reciprocal translocation - 46,XX,t(7;17) (p13;q24) probably involving the SOX9 gene in the in vitro fertilization with own oocytes evaluated by preimplantation genetic testing or donated oocytes

JBRA Assist Reprod. 2019 Jan 31;23(1):68-71. doi: 10.5935/1518-0557.20180066.

Abstract

Preimplantation genetic testing (PGT) for in vitro fertilization (IVF) - also known as PGT for Structural Rearrangements (PGT-SR) - has emerged as an option for at-risk couples carrying balanced translocations. The female in the couple featured in this case report is a carrier of a balanced reciprocal translocation who underwent IVF. PGT showed all her embryos were aneuploid. She subsequently had two cycles using donor oocytes, which ended in miscarriages.

Keywords: balanced translocations; in vitro fertilization (IVF); preimplantation genetic testing (PGT).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Fertilization in Vitro*
  • Humans
  • Oocyte Donation
  • Oocytes / physiology*
  • Preimplantation Diagnosis*
  • SOX9 Transcription Factor / genetics*
  • Translocation, Genetic / genetics*

Substances

  • SOX9 Transcription Factor
  • SOX9 protein, human