Preimplantation genetic testing results of blastocysts from 12 non-Robertsonian translocation carriers with chromosome fusion and comparison with Robertsonian translocation carriers

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Authors:

Pingyuan Xie, Ph.D., Yiqing Li, B.Sc., Dehua Cheng, Ph.D., Liang Hu, M.D., Ph.D., Yueqiu Tan, Ph.D., Keli Luo, M.D., Ph.D., Fei Gong, M.D., Ph.D., Guangxiu Lu, M.D., Ge Lin, M.D., Ph.D. 

Abstract:

Objective

To investigate the effects of non-Robertsonian translocation with chromosome fusion (N-RBCF) on preimplantation embryos.


Design

Case series.


Setting

University-affiliated center.


Patient(s)

Twelve couples with N-RBCF.


Intervention(s)

Assisted reproduction with preimplantation genetic testing in chromosomal structural rearrangement (PGT-SR).


Main Outcome Measure(s)

Normal embryo rate, unbalanced translocation rate.


Result(s)

PGT was performed in 12 N-RBCF carriers, of whom 4 carried Y-autosome fusions and 8 autosomal fusions. A total of 12 (63.2%) of 19 blastocysts exhibited normal/balanced embryos, and only one (5.3%) embryo exhibited unbalanced translocations among Y-autosome fusion cases. In contrast to these findings, the percentage of normal/balanced blastocysts in 8 autosomal N-RBCF cases was 28.2% (11/39), whereas the unbalanced translocation rate was 53.8%. Furthermore, the percentage of normal/balanced embryos in the Robertsonian translocation group was significantly higher than that of the 8 autosomal N-RBCF (48.7% vs. 28.2%) cases. The rates of abnormality from chromosomal fusion in the 8 autosomal N-RBCF cases were significantly higher than those noted in the Robertsonian translocation (53.8% vs. 31.4%) subjects. The results of the stratified analysis according to the carrier’s sex demonstrated that the rates of unbalanced translocation were significantly higher in the male autosomal N-RBCF subjects than those from the corresponding Robertsonian translocation (55% vs. 19.7%) cases.


Conclusion(s)

A low number of unbalanced translocations was identified in blastocysts from N-RBCF subjects who carried the Y fusion. The risk of unbalanced translocation in autosomal N-RBCF was higher than that of the Robertsonian translocation, notably in male carriers.

Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

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