PGS and PGD for Translocation Analysis-Better Informative Results Using NGS Method vs CMA

Introduction
The application of next generation sequencing (NGS) for embryonic aneuploidy screening provides better resolution allowing better accuracy and routine evaluation of mosaicism.

Aim
To summarize our experience in blastocyst biopsy for PGS and PGD translocation (PGD-T) cycles, and compare the genetic embryo results between CMA and NGS analysis.

Materials and Methods
From January 2016 until August 2017, a total of 91 PGS/PGD-T cycles were performed. All blastocysts were vitrified on the biopsy day.
For CMA analysis, Illumina 24Sure microarrays kit was performed and for NGS analysis, Miseq sequencer with VeriSeq PGS kit was used.

Results
Fifty three PGS cycles and 38 PGD-T cycles were performed, resulting in 178 and 170 embryos analyzed for PGS and PGD-T respectively. Together, 254 embryos were analyzed using the CMA method and 94 embryos using the NGS method. Interestingly, the non-informative results were lower using NGS analysis (7.4%) as compare to CMA (14.2%). To date, 39 PGS and 25 PGD-T IVF-ET cycles were performed with the transfer of 41 and 30 embryos, respectively, resulting in clinical pregnancy rate of 35.9% and 29.2% and Implantation rate of 34.1 and 23.3%, for PGS and PGD-T respectively. In the PGS group, clinical pregnancy rates per transfer following CMA and NGS analyses were 26.9 and 46.2%, respectively.

Conclusions
This study presents our results in PGS and PGD-T cycles, using both, CMA and NGS analyses. These preliminary data suggest good clinical outcome and lower rate of non-informative diagnostic rates using the NGS method.