Response to controlled ovarian stimulation and oocyte quality in women with myotonic dystrophy type I.

PURPOSE: In women the relationship between myotonic dystrophy type I and fertility remains controversial. The objective of this study was to evaluate the ovarian reserve, ovarian response to stimulation and oocyte quality in these patients. MATERIALS AND METHODS: We compared 15 myotonic dystrophy type I patients with 39 age matched controls with isolated male factor infertility necessitating ICSI. RESULTS: All parameters of ovarian reserve (day 3 FSH and E2, antral follicle count and delta E2) were significantly better in the controls. Despite having significantly lower doses of gonadotrophin, the control group attained a higher number of retrieved oocyte-cumulus complexes (p < 0.04). Analysis of cytoplasmic and extracytoplasmic dysmorphism did not reveal any difference between the two groups. Fertilisation rate and top grade embryos on day 3 were similar in both groups. CONCLUSION: The present study suggests that though women with myotonic dystrophy type I have a reduced ovarian reserve and respond poorly to controlled ovarian stimulation, there is no impact on oocyte and embryo quality. Hence suggesting that successful ART is feasible with appropriate selection in women with mild myotonic dystrophy.

Preimplantation genetic diagnosis for myotonic dystrophy type 1 in the UK.

Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder caused by expansion of a trinucleotide repeat in a non-coding region of DMPK. Prenatal diagnosis (PND) is available; however, the decision to terminate affected pregnancies is difficult as the extent of disability is hard to predict from the size of the expansion. In preimplantation genetic diagnosis (PGD) genetic analysis is carried out before the establishment of pregnancy. This paper reviews the largest number of cycles of PGD for DM1 in the UK indicating that PGD is a practical option for affected couples.