First report of a successful pregnancy by preimplantation genetic testing for Beckwith-Wiedemann syndrome

Taiwan J Obstet Gynecol. 2022 Jan;61(1):174-179. doi: 10.1016/j.tjog.2021.11.030.

Abstract

Objective: Beckwith-Wiedemann syndrome (BWS) is a rare imprinting gene disorder. Maternal CDKN1C mutation comprises 5% of etiologies of BWS. There is no successful report of preventing BWS by preimplantation genetic testing for monogenic disease (PGT-M) in the literature. Is PGT-M applicable for preventing BWS ?

Case report: This 39-year-old woman conceived naturally and delivered a boy who was diagnosed of BWS. The genetic testing of her son revealed CDKN1C gene mutation, and of the mother showed a carrier of the same mutation. She underwent controlled ovarian stimulation, oocyte pickup, and intracytoplasmic sperm injection. Trophectoderm biopsies were performed and samples were checked for PGT. Two wild-type and euploid embryos were thawed and transferred. One intrauterine pregnancy was achieved. The patient delivered a healthy female baby at 37 weeks of gestation.

Conclusion: In this case, we first report a successful pregnancy with a wild-type CDKN1C gene baby achieved by PGT-M.

Keywords: Beckwith-Wiedemann syndrome; CDKN1C mutation; Exon-wide sequencing; Linkage analysis; Preimplantation genetic testing.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Beckwith-Wiedemann Syndrome / diagnosis*
  • Beckwith-Wiedemann Syndrome / genetics
  • Cyclin-Dependent Kinase Inhibitor p57 / genetics*
  • Female
  • Genetic Linkage
  • Genetic Testing
  • Genomic Imprinting
  • Humans
  • Male
  • Mutation
  • Pregnancy
  • Pregnancy Outcome
  • Preimplantation Diagnosis*
  • Sperm Injections, Intracytoplasmic*

Substances

  • CDKN1C protein, human
  • Cyclin-Dependent Kinase Inhibitor p57