Fertility and Sterility
Volume 93, Issue 7 , Pages 2413.e1-2413.e5 , 1 May 2010

Preimplantation genetic diagnosis (PGD) for extremes—successful birth after PGD for a consanguineous couple carrying an identical balanced reciprocal translocation

Presented as a poster at the Sixth International Symposium on. Preimplantation Genetics, May 19–21, 2005, London, United Kingdom; and at the 7th National Prenatal Diagnosis and Medical Genetics Congress, March 17–20, 2006, Kayseri, Turkey.

  • Cagri Beyazyurek, M.S.

      Affiliations

    • Reproductive Genetics Laboratory, Istanbul Memorial Hospital, Sisli, Istanbul, Turkey
    • Corresponding Author InformationReprint requests: Cagri Beyazyurek, M.S., Reproductive Genetics Laboratory, Istanbul Memorial Hospital, 34385, Sisli, Istanbul, Turkey (FAX: +902123146657).
    • ,
  • Cumhur Gokhan Ekmekci, M.D., Ph.D.

      Affiliations

    • Reproductive Genetics Laboratory, Istanbul Memorial Hospital, Sisli, Istanbul, Turkey
    • ,
  • Yaman Sağlam, M.D., Ph.D.

      Affiliations

    • Reproductive Genetics Laboratory, Istanbul Memorial Hospital, Sisli, Istanbul, Turkey
    • Genetic Diagnosis Center, Goztepe Medical Park Hospital, Goztepe, Istanbul, Turkey
    • ,
  • Cigdem Cinar, M.S.

      Affiliations

    • Reproductive Genetics Laboratory, Istanbul Memorial Hospital, Sisli, Istanbul, Turkey
    • ,
  • Semra Kahraman, M.D., Ph.D.

      Affiliations

    • In Vitro Fertilisation Unit, Istanbul Memorial Hospital, Sisli, Istanbul, Turkey

Received 17 September 2009 ,Revised 7 December 2009 ,Accepted 10 December 2009.

References 

  1. Kumtepe Y, Beyazyurek C, Cinar C, Ozbey I, Ozkan S, Cetinkaya K, et al. A genetic survey of 1935 Turkish men with severe male factor infertility. Reprod Biomed Online. 2009;18:465–474
  2. Stern C, Pertile M, Norris H, Hale L, Baker HW. Chromosome translocations in couples with in-vitro fertilization implantation failure. Hum Reprod. 1999;14:2097–2101
  3. Benet J, Oliver-Bonet M, Cifuentes P, Templado C, Navarro J. Segregation of chromosomes in sperm of reciprocal translocation carriers: a review. Cytogenet Genome Res. 2005;111:281–290
  4. Scriven PN, Handyside AH, Ogilvie CM. Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn. 1998;18:1437–1449
  5. Munné S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online. 2002;4:183–196
  6. Ozkul Y, Dundar M. A family with two different chromosomal translocations. Ann Genet. 2002;45:185–187
  7. Escudero T, Abdelhadi I, Sandalinas M, Munné S. Predictive value of sperm fluorescence in situ hybridization analysis on the outcome of preimplantation genetic diagnosis for translocations. Fertil Steril. 2003;79:1528–1534
  8. Munné S, Dailey T, Finkelstein M, Weier HU. Reduction in signal overlap results in increased FISH efficiency: implications for preimplantation genetic diagnosis. J Assist Reprod Genet. 1996;13:149–156
  9. Lersch RA, Fung J, Munné S, Pedersen RA, Weier HU. Case-specific, breakpoint-spanning DNA probes for analysis of single interphase cells. Genet Test. 2000;4:273–278
  10. Findikli N, Kahraman S, Kumtepe Y, Donmez E, Biricik A, Sertyel S, et al. Embryo development characteristics in Robertsonian and reciprocal translocations: a comparison of results with non-translocation cases. Reprod Biomed Online. 2003;5:563–571
  11. Munné S, Márquez C, Magli C, Morton P, Morrison L. Scoring criteria for preimplantation genetic diagnosis of numerical abnormalities for chromosomes X, Y, 13, 16, 18 and 21. Mol Hum Reprod. 1998;4:863–870
  12. Kyu Lim C, Hyun Jun J, Mi Min D, Lee HS, Young Kim J, Koong MK, et al. Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and robertsonian translocations: the Korean experience. Prenat Diagn. 2004;24:556–561
  13. Verlinsky Y, Tur-Kaspa I, Cieslak J, Bernal A, Morris R, Taranissi M, et al. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis patients. Reprod Biomed Online. 2005;11:219–225
  14. Otani T, Roche M, Mizuike M, Colls P, Escudero T, Munné S. Preimplantation genetic diagnosis significantly improves the pregnancy outcome of translocation carriers with a history of recurrent miscarriage and unsuccessful pregnancies. Reprod Biomed Online. 2006;13:869–874
  15. Beyazyurek C, Cinar C, Onal B, Ekmekci CG, Aslan C, Unal S, et al. Outcomes of over 200 preimplantation genetic diagnosis cycles for translocation carriers. [abstract] Reprod Biomed Online. 2009;18
  16. Munné S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril. 2000;73:1209–1218
  17. Tsuji K, Narahara K, Yokoyama Y, Ninomiya S, Yonesawa S, Hiramatsu Y, et al. Reproductive risk in mating between two translocation carriers: case report and review of the literature. Am J Med Genet. 1993;15(46):524–528
  18. Bijlsma JB, de France HF, Bleeker-Wagemakers LM, Dijkstra PF. Double translocation t(7;12), t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome. Hum Genet. 1978;40:135–147
  19. Martinet D, Vial Y, Thonney F, Beckmann JS, Meagher-Villemure K, Unger S. A fetus with two identical reciprocal translocations: description of a rare complication of consanguinity. Am J Med Genet. 2006;140:769–774
  20. Wilmot PL, Shapiro LR, Casamassima AC. Disomic balanced reciprocal translocation. Clin Genet. 1990;38:126–127
  21. Schneider E, Märker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, et al. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. Hum Mol Genet. 2009;18:655–666
  22. Thornhill AR, deDie-Smulders CE, Geraedts JP, Harper JC, Harton GL, Lavery SA, et al. ESHRE PGD Consortium. Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Hum Reprod. 2005;20:35–48

 C.B. has nothing to disclose. C.G.E. has nothing to disclose. Y.S. has nothing to disclose. C.C. has nothing to disclose. S.K. has nothing to disclose.

PII: S0015-0282(09)04218-6

doi: 10.1016/j.fertnstert.2009.12.032

Fertility and Sterility
Volume 93, Issue 7 , Pages 2413.e1-2413.e5 , 1 May 2010

Article Tools

* Image Usage & Resolution