Can Characteristics of Reciprocal Translocations Predict the Chance of Transferable Embryos in PGD Cycles?

Journal of Clinical Medicine

Elsbeth Dul⁵  Jannie van Echten-Arends⁵  Henk Groen³  Peter Kastrop¹  Lucie Amory-van Wissen⁴  John Engelen²  Jolande Land⁵  Edith Coonen⁴ 

[1] Department of Reproductive Medicine, University Medical Center Utrecht, Heidelberglaan 100, CX Utrecht 3584, The Netherlands; E-Mail:;Department of Clinical Genetics, Academic Hospital Maastricht, P. Debyelaan 25, HX Maastricht 6229, The Netherlands; E-Mail:;Department of Epidemiology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, GZ Groningen 9713, The Netherlands; E-Mail:;Department of Obstetrics & Gynaecology, Academic Hospital Maastricht, P. Debyelaan 25, HX Maastricht 6229, The Netherlands; E-Mails:;Department of Obstetrics and Gynaecology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, GZ Groningen 9713, The Netherlands; E-Mails:

关键词: reciprocal translocation;    Robertsonian translocation;    preimplantation genetic diagnosis (PGD);    meiotic segregation;   

DOI  :  10.3390/jcm3020348

来源: mdpi

【 摘 要 】

Translocation carriers have an increased risk of miscarriage or the birth of a child with congenital anomalies. Preimplantation genetic diagnosis (PGD) is performed in translocation carriers to select for balanced embryos and, thus, increase the chance of an ongoing pregnancy. However, a common experience is that reciprocal translocation carriers produce a high percentage of unbalanced embryos, which cannot be transferred. Therefore, the pregnancy rates in PGD in this patient group are low. In a cohort of 85 reciprocal translocation carriers undergoing PGD we have searched for cytogenetic characteristics of the translocations that can predict the percentage of balanced embryos. Using shape algorithms, the most likely segregation mode per translocation was determined. Shape algorithm, breakpoint location, and relative chromosome segment sizes proved not to be independent predictors of the percentage of balanced embryos. The ratio of the relative sizes of the translocated segments of both translocation chromosomes can give some insight into the chance of transferable embryos: Very asymmetrical translocations have a higher risk of unbalanced products (p = 0.048). Counseling of the couples on the pros and cons of all their reproductive options remains very important.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.