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

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
• Preimplantation genetic testing
• Exon-wide sequencing
• Linkage analysis