[Genetic testing of carriers with Robertsonian translocations before embryo implantation and associated clinical outcomes]
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Updated: May 28, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
1Reproductive Medicine Center, Department of Obstetrics and Gynecology, First Medical Center of Chinese People's Liberation Army General Hospital, Beijing 100853, China.
Abstract:
A total of 112 carriers (51 males and 61 females) with Robertsonian translocations who underwent 148 cycles of preimplantation genetic testing for structural rearrangements (PGT-SR) between February 2017 and December 2023 at the First Center of General Hospital of Chinese PLA were recruited. The heterologous type rob (13; 14) was the most common form of translocation, which accounted for 65.2% (73/112). The total euploidy rate of blastocysts was 42.1% (303/720). Male carriers had higher rate of euploid embryo than female carriers [50.0% (149/298) vs 36.5% (154/422), P<0.001]. Likewise, the clinical pregnancy rate in male carriers was higher than female carriers, but the difference was not statistically significant [62.9% (39/62) vs 49.4% (38/77), P=0.154]. There were 139 transferrable embryos, with a clinical pregnancy rate of 55.4% (77/139) and abortion rate of 14.3% (11/77). The current study indicates that male carriers with Robertsonian translocations had higher rate of euploid embryo than female carriers in PGT-SR cycles.

