J. Clin. Med. 2014, 3(2), 348-358; doi:10.3390/jcm3020348
Article

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

1,* email, 1email, 2email, 3email, 4email, 5email, 1email, 4email and 6email
Received: 10 January 2014; in revised form: 26 February 2014 / Accepted: 10 March 2014 / Published: 2 April 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 2)
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.
Abstract: 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.
Keywords: reciprocal translocation; Robertsonian translocation; preimplantation genetic diagnosis (PGD); meiotic segregation
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MDPI and ACS Style

Dul, E.; van Echten-Arends, J.; Groen, H.; Kastrop, P.; Wissen, L.A.-V.; Engelen, J.; Land, J.; Coonen, E.; van Ravenswaaij-Arts, C. Can Characteristics of Reciprocal Translocations Predict the Chance of Transferable Embryos in PGD Cycles? J. Clin. Med. 2014, 3, 348-358.

AMA Style

Dul E, van Echten-Arends J, Groen H, Kastrop P, Wissen LA-V, Engelen J, Land J, Coonen E, van Ravenswaaij-Arts C. Can Characteristics of Reciprocal Translocations Predict the Chance of Transferable Embryos in PGD Cycles? Journal of Clinical Medicine. 2014; 3(2):348-358.

Chicago/Turabian Style

Dul, Elsbeth; van Echten-Arends, Jannie; Groen, Henk; Kastrop, Peter; Wissen, Lucie A.-V.; Engelen, John; Land, Jolande; Coonen, Edith; van Ravenswaaij-Arts, Conny. 2014. "Can Characteristics of Reciprocal Translocations Predict the Chance of Transferable Embryos in PGD Cycles?" J. Clin. Med. 3, no. 2: 348-358.

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