Preimplantation genetic screening in a case of recurrent trisomy 21 offspring

Fertil Steril. 2009 Mar;91(3):930.e17-8. doi: 10.1016/j.fertnstert.2008.08.116. Epub 2008 Oct 18.

Abstract

Objective: To describe a unique case of recurrent aneuploidy and the use of preimplantation genetic screening (PGS).

Design: Case report.

Setting: Midwest academic medical center.

Patient(s): A 36-year-old woman with two trisomy 21 offspring.

Intervention(s): Preimplantation genetic screening.

Main outcome measure(s): Karyotype of embryos, liveborn eukaryotic infant.

Result(s): Preimplantation genetic screening was performed on three cryopreserved embryos, followed by a two-embryo transfer yielding a eukaryotic infant.

Conclusion(s): Preimplantation genetic screening may prove to be useful as a diagnostic tool to help ensure a euploid pregnancy when termination is not a viable option for a couple.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cryopreservation*
  • Down Syndrome / diagnosis*
  • Down Syndrome / genetics
  • Embryo Transfer*
  • Embryo, Mammalian*
  • Female
  • Genetic Testing*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Live Birth
  • Pregnancy
  • Preimplantation Diagnosis*