TY - JOUR
T1 - Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping
AU - Wang, Cheng Wei
AU - Liu, Yung Liang
AU - Chen, Chi Huang
PY - 2019/11
Y1 - 2019/11
N2 - 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.
AB - 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.
KW - Karyomapping
KW - Myotonic dystrophy
KW - Preimplantation genetic testing
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U2 - 10.1016/j.tjog.2019.04.002
DO - 10.1016/j.tjog.2019.04.002
M3 - Article
AN - SCOPUS:85072999799
SN - 1028-4559
VL - 58
SP - 891
EP - 894
JO - Taiwanese Journal of Obstetrics and Gynecology
JF - Taiwanese Journal of Obstetrics and Gynecology
IS - 6
ER -