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BioMed Research International
Volume 2017, Article ID 9165363, 7 pages
https://doi.org/10.1155/2017/9165363
Research Article

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

1Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, Seville, Spain
2Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain

Correspondence should be addressed to Guillermo Antiñolo; se.aiculadnaedatnuj@apss.olonitna.omrelliug

Received 20 July 2017; Accepted 25 October 2017; Published 14 November 2017

Academic Editor: Heide Schatten

Copyright © 2017 Raquel María Fernández et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. A. Theadom, M. Rodrigues, R. Roxburgh et al., “Prevalence of muscular dystrophies: a systematic literature review,” Neuroepidemiology, vol. 43, no. 3-4, pp. 259–268, 2014. View at Publisher · View at Google Scholar · View at Scopus
  2. International Myotonic Dystrophy Consortium (IDMC), “New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1),” Neurology, vol. 54, no. 6, pp. 1218–1221, 2000. View at Publisher · View at Google Scholar
  3. T. H. Bird, “Myotonic Dystrophy Type 1,” 2015, https://www.ncbi.nlm.nih.gov/books/NBK1165/.
  4. P. Harper and P. Dyken, “Early-onset dystrophia myotonica evidence supporting a maternal environmental factor,” The Lancet, vol. 300, no. 7767, pp. 53–55, 1972. View at Publisher · View at Google Scholar · View at Scopus
  5. J. Puymirat, Y. Giguère, J. Mathieu, and J.-P. Bouchard, “Intergenerational contraction of the ctg repeats in 2 families with myotonic dystrophy type 1,” Neurology, vol. 73, no. 24, pp. 2126-2127, 2009. View at Publisher · View at Google Scholar · View at Scopus
  6. E. Feyereisen, A. Amar, V. Kerbrat et al., “Myotonic dystrophy: Does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?” Human Reproduction, vol. 21, no. 1, pp. 175–182, 2006. View at Publisher · View at Google Scholar · View at Scopus
  7. B. Sahu, O. Ozturk, N. Deo, K. Fordham, M. Ranierri, and P. Serhal, “Response to controlled ovarian stimulation and oocyte quality in women with myotonic dystrophy type I,” Journal of Assisted Reproduction and Genetics, vol. 25, no. 1, pp. 1–5, 2008. View at Publisher · View at Google Scholar · View at Scopus
  8. N. Srebnik, E. J. Margalioth, R. Rabinowitz et al., “Ovarian reserve and PGD treatment outcome in women with myotonic dystrophy,” Reproductive BioMedicine Online, vol. 29, no. 1, pp. 94–101, 2014. View at Publisher · View at Google Scholar · View at Scopus
  9. J. A. Vazquez, J. A. Pinies, P. Martul, A. De los Rios, S. Gatzambide, and M. A. Busturia, “Hypothalamic-pituitary-testicular function in 70 patients with myotonic dystrophy,” Journal of Endocrinological Investigation: Official Journal of the Italian Society of Endocrinology, vol. 13, no. 5, pp. 375–379, 1990. View at Publisher · View at Google Scholar · View at Scopus
  10. M. L. Hortas, J. A. Castilla, M. T. Gil et al., “Decreased sperm function of patients with myotonic muscular dystrophy,” Human Reproduction, vol. 15, no. 2, pp. 445–448, 2000. View at Publisher · View at Google Scholar · View at Scopus
  11. W. Verpoest, S. Seneca, M. De Rademaeker et al., “The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract,” Journal of Assisted Reproduction and Genetics, vol. 27, no. 6, pp. 327–333, 2010. View at Publisher · View at Google Scholar · View at Scopus
  12. C. Dechanet, C. Castelli, L. Reyftmann et al., “Myotonic dystrophy type 1 and PGD: Ovarian stimulation response and correlation analysis between ovarian reserve and genotype,” Reproductive BioMedicine Online, vol. 20, no. 5, pp. 610–618, 2010. View at Publisher · View at Google Scholar · View at Scopus
  13. R. M. Fernández, A. Peciña, B. Sánchez et al., “Experience of preimplantation genetic diagnosis for hemophilia at the university hospital virgen Del Rocío in Spain: technical and clinical overview,” BioMed Research International, vol. 2015, Article ID 406096, 2015. View at Publisher · View at Google Scholar · View at Scopus
  14. N. L. Dean, S. L. Tan, and A. Ao, “The development of preimplantation genetic diagnosis for myotonic dystrophy using multiplex fluorescent polymerase chain reaction and its clinical application,” Molecular Human Reproduction, vol. 7, no. 9, pp. 895–901, 2001. View at Publisher · View at Google Scholar · View at Scopus
  15. G. Kakourou, S. Dhanjal, T. Mamas et al., “Preimplantation genetic diagnosis for myotonic dystrophy type 1 in the UK,” Neuromuscular Disorders, vol. 18, no. 2, pp. 131–136, 2008. View at Publisher · View at Google Scholar · View at Scopus
  16. J. C. Harper, L. Wilton, J. Traeger-Synodinos et al., “The ESHRE PGD consortium: 10 years of data collection,” Human Reproduction Update, vol. 18, no. 3, pp. 234–247, 2012. View at Publisher · View at Google Scholar · View at Scopus
  17. S. M. Nelson, B. M. Klein, and J.-C. Arce, “Comparison of antimüllerian hormone levels and antral follicle count as predictor of ovarian response to controlled ovarian stimulation in good-prognosis patients at individual fertility clinics in two multicenter trials,” Fertility and Sterility, vol. 103, no. 4, pp. 923–930.e1, 2015. View at Publisher · View at Google Scholar · View at Scopus