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.
Original language | English |
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Pages (from-to) | 891-894 |
Number of pages | 4 |
Journal | Taiwanese Journal of Obstetrics and Gynecology |
Volume | 58 |
Issue number | 6 |
DOIs | |
Publication status | Published - Nov 2019 |
Keywords
- Karyomapping
- Myotonic dystrophy
- Preimplantation genetic testing
ASJC Scopus subject areas
- Obstetrics and Gynaecology