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

• Main Authors: Elsbeth Dul, Jannie van Echten-Arends, Henk Groen, Peter Kastrop, Lucie Amory-van Wissen, John Engelen, Jolande Land, Edith Coonen, Conny van Ravenswaaij-Arts
• Format: Article
• Language: English
• Published: MDPI AG 2014-04-01
• Series: Journal of Clinical Medicine
• Subjects: reciprocal translocation; Robertsonian translocation; preimplantation genetic diagnosis (PGD); meiotic segregation
• Online Access: http://www.mdpi.com/2077-0383/3/2/348

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.