1. Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients
- Author
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Maria Dolores Lozano-Arana, Salud Borrego, Raquel M. Fernández, Guillermo Antiñolo, Juan Carlos García-Lozano, Ana Peciña, Beatriz Sánchez, Junta de Andalucía, Universidad de Sevilla. Departamento de Cirugía, [Maria Fernandez, Raquel] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Dolores Lozano-Arana, Maria] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Sanchez, Beatriz] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Pecina, Ana] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Carlos Garcia-Lozano, Juan] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Borrego, Salud] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Antinolo, Guillermo] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Maria Fernandez, Raquel] Ctr Biomed Network Res Rare Dis CIBERER, Seville, Spain, [Pecina, Ana] Ctr Biomed Network Res Rare Dis CIBERER, Seville, Spain, [Borrego, Salud] Ctr Biomed Network Res Rare Dis CIBERER, Seville, Spain, [Antinolo, Guillermo] Ctr Biomed Network Res Rare Dis CIBERER, Seville, Spain, and 'Fundacion Publica Andaluza Progreso y Salud,' within the Regional Ministry of Health of the Autonomous Government of Andalucia
- Subjects
Adult ,Male ,musculoskeletal diseases ,Controlled ovarian stimulation ,medicine.medical_specialty ,Article Subject ,Reproductive Outcome ,lcsh:Medicine ,Physiology ,Disease ,Preimplantation genetic diagnosis ,Myotonic dystrophy ,General Biochemistry, Genetics and Molecular Biology ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,medicine ,Humans ,Myotonic Dystrophy ,Women ,Muscular dystrophy ,Reserve ,Myotonic Dystrophy Type 1 ,Preimplantation Diagnosis ,Gynecology ,030219 obstetrics & reproductive medicine ,General Immunology and Microbiology ,business.industry ,lcsh:R ,Haplotype ,Pregnancy Outcome ,General Medicine ,medicine.disease ,Haplotypes ,Female ,business ,Live birth ,030217 neurology & neurosurgery ,Research Article ,Microsatellite Repeats ,Cohort study - Abstract
Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy and presents an autosomal dominant inheritance. A reproductive option for the families affected is preimplantation genetic diagnosis (PGD). One limitation of this option is the nonoptimal response to ovarian stimulation of the women with DM1, although controversial results exist regarding this subject. In this study, we have analyzed the results of the PGD program applied to DM1 at our institution. A total of 35 couples have been included in our program since 2010, and 59 cycles have been performed. The percentage of transfers per cycle was 64.4% and the live birth rate per cycle was 18.6%. Interestingly, statistically significant differences were observed for the clinical results in the group of couples with an affected female versus the group with an affected male or versus a group of couples with different referral reasons. Specifically, both the percentage of mature oocytes out of the total oocytes retrieved and the percentage of fertilization were considerably lower in the group of DM1 females. Our findings would suggest the possibility of achieving less favourable PGD outcomes in women with DM1 in comparison with other pathologies, although the underlying mechanism remains unknown., This work was supported by the Project PI-105-2011, funded by “Fundación Pública Andaluza Progreso y Salud,” within the Regional Ministry of Health of the Autonomous Government of Andalucia.
- Published
- 2017