Pre-implantation genetic screening using semiconductor high-throughput sequencing

Embryo chromosomal abnormalities can cause early pregnancy loss and failure of ART programs. Pre-implantation genetic screening (PGS) allows detecting chromosomal abnormalities before embryo transfer and raises the efficiency of ART. Now for PGS FISH and aCGH technologies are used. Development of high-throughput sequencing methods and prices reduction can allow performing PGS quicker and cheaper.

The aim of this study was to estimate possibility to perform PGS using semiconductor high-throughput sequencing and to compare sequencing and comparative genomic hybridization results.

In this study, eight embryo cell samples were analyzed. According to aCGH results, we had two samples with normal karyotype, 3 samples with aneuploidies and 3 chaotic samples.

Comparative genomic hybridization was performed using SurePrint G3 Human CGH 8x60K Microarray (Agilent, USA). Multiplexed sequencing (4 samples/chip) was performed using Ion PGM Torrent 316v1 chip (Life Technologies Thermo Fisher). Sequencing results were analyzed using in-house developed pipeline.

The results obtained using comparative genomic hybridization and semiconductor sequencing were identical. This study confirmed that Ion Torrent sequencing technology could be used for PGS. Further validation of sample processing and data analysis pipeline is necessary.