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.
Highlights
Steinert’s disease or myotonic dystrophy type 1 (DM1, OMIM#160900) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system
The disease results from an expansion of a CTG trinucleotide repeat in the 3UTR region of the DMPK gene (OMIM∗605377), located within the 19q13.32 region
Despite the general inherent drawbacks of preimplantation genetic diagnosis (PGD) such as the need for IVF, cost, and the risk of misdiagnosis, this strategy offers an alternative for the couples who are unwilling to accept prenatal diagnosis leading to possible termination of pregnancies
Summary
Steinert’s disease or myotonic dystrophy type 1 (DM1, OMIM#160900) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. It is the most common form of adult muscular dystrophy with an overall estimated worldwide prevalence of 1 : 20,000 [1] and an autosomal dominant inheritance. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes (mild, classic, and congenital) that generally correlate with CTG repeat size. Congenital cases can have >2000 repeats and the disease is characterized by hypotonia and severe generalized weakness at birth, often with intellectual disability, respiratory insufficiency, and early death [2, 3]
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