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

Ih Jane Yang, Yi An Tu, Song Po Pan, Ting Chi Huang, Chih Ling Chen, Ming Wei Lin, Yi Yi Tsai, Yi Lin Yao, Yi Ning Su, Shee Uan Chen*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Original languageEnglish
Pages (from-to)174-179
Number of pages6
JournalTaiwanese Journal of Obstetrics and Gynecology
Volume61
Issue number1
DOIs
StatePublished - Jan 2022

Keywords

  • Beckwith-Wiedemann syndrome
  • CDKN1C mutation
  • Exon-wide sequencing
  • Linkage analysis
  • Preimplantation genetic testing

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