Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping

Taiwan J Obstet Gynecol. 2019 Nov;58(6):891-894. doi: 10.1016/j.tjog.2019.04.002.

Abstract

Objective: To report a case with Myotonic dystrophy type I with successful preimplantation genetic diagnosis-karyomapping.

Case report: A 34-year-old female carrier of myotonic dystrophy type I was treated at our clinic with a successful pregnancy after preimplantation genetic testing for monogenic disorders using karyomapping of her blastocysts.

Conclusion: Myotonic dystrophy type I is an inherited autosomal dominant disease producing various neuromuscular disturbances. Offspring of carriers have a 50% chance of carrying CTG repeat sequences in the DMPK gene, and various time-consuming methodologies have been developed for genetic diagnosis. With a novel, efficient, and precise method by karyomapping using single nucleotide polymorphism arrays to diagnose single gene disorders, one could terminate the transmission of single gene disorder. Herein, we reported a 34-year-old female carrier of myotonic dystrophy type I achieve a successful pregnancy after preimplantation genetic testing for monogenic disorders using karyomapping method of her blastocysts.

Keywords: Karyomapping; Myotonic dystrophy; Preimplantation genetic testing.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blastocyst*
  • Female
  • Genetic Testing / methods*
  • Humans
  • Karyotyping
  • Myotonic Dystrophy / diagnosis*
  • Myotonic Dystrophy / genetics
  • Pregnancy
  • Preimplantation Diagnosis / methods*