ISSN 1518 0557
PGD in carriers of reciprocal translocations by aCGH in trophectoderm biopsy and deffered cycle transfer - Oral presentation in the 11 th REDLARA Congress- Panama

2013; 17
Maria Eugenia Ducatelli, Andressa G Mondadori, Fabian Coco, Sebastian Neuspiller, Judith Mincman, Roberto Coco
JBRA Assist. Reprod. 2013; 17 (2):122-123

Received March 04, 2013
Accepted April 13, 2013
Abstract

Objective:It is well known that reciprocal and Robertsonian translocations carriers have increased risks of producing aneuploidies gametes associated with the meiotic multivalent, which ones abort spontaneously or end with the birth of an abnormal child. Method: We present our preliminary experience with 8 (eight) cases of PGD of balanced translocations with trophectoderm biopsy, genetic study by aCGH and deffered transfer. Seven cases were reciprocal translocations and only one was a Robertsonian translocation. From reciprocal translocations twenty two blastocysts were biopsied and ten from Robertsonian translocations. Results: Amongst the first group, a 41% resulted in a normal aCGH, a 46% abnormal due to malsegregation of the multivalent, and a 13% aneuploid not related to the meiotic quadrivalent. In the Robertsonian translocation a 60% was normal, a 10% unbalanced by malsegregation of the meiotic trivalent and a 30% aneuploid not related to translocation. Surprisingly most of the abnormalities (90%) were due to adjacent type 2 segregation and malsegregation 3:1, which imply important chromosomal unbalance. Out of the 8 (eight) performed cycles, only 4 were transferred with a normal aCGH blastocyst. Three of them achieved the pregnancy. Conclusion: Taking into account the results achieved with biopsy in day 3 and fresh transfer, it seems that the results in day 5 and deferred transfer are much better. Probably the biopsy performed in an embryo that reach the maximum stage of development in vitro and the transfer in a cycle with an endometrium more physiologically prepared are the main reasons for the best results.


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doi: 10.5935/1518-0557.20130018

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