Infertility touches the lives of many couples. An estimated 48.5 million couples worldwide suffer from infertility (1), spurring the usage of assisted reproductive technologies around the globe. Preimplantation genetic screening is a type of assisted reproductive technology. Fertility researchers are investigating new technologies such as next-generation sequencing for preimplantation genetic screening.
What is preimplantation genetic screening?
Preimplantation genetic screening (PGS), also known as preimplantation genetic testing – aneuploidy (PGT-A), is a genetic test that determines whether an embryo biopsy has the correct number of chromosomes and which chromosomes are present. Aneuploidy is the term used if there are too many or too few chromosomes. PGS detects aneuploidy and is a growing area of interest in fertility research. And it is more commonly incorporated into IVF workflows to decrease miscarriage rates and shorten the time to pregnancy (2).
Start PGS with Ion ReproSeq PGS kits
Designed to get fast results from precious embryo biopsy samples, Ion Torrent next-generation sequencing (NGS) provides a simple PGS workflow with flexible sample throughput for reliable and rapid aneuploidy detection with Ion ReproSeq PGS kits in less than 10 hours*. These kits take advantage of automated template preparation using the Ion Chef System and can be used to analyze 16–96 samples.
Learn about PGS from key opinion leaders in the field
Dr. Colin Lee
Founder and Medical Director
Alpha International Fertility Centre
Ion GeneStudio S5 and Ion GeneStudio S5 Plus NGS systems
Adopting NGS in your lab is now simpler than ever. The Ion GeneStudio S5 and Ion GeneStudio S5 Plus Systems enable the simplest targeted sequencing workflow for your lab with industry-leading speed and affordability.
The workflow below illustrates a simple and rapid workflow from a single cell to aneuploidy detection. The Ion ReproSeq PGS kits include all materials for library construction, template preparation, and sequencing in the Ion GeneStudio S5 System workflow taking you from cell to analysis in less than 10 hours*.
The Ion sequencing chips—the Ion 510 Chip, Ion 520 Chip, and Ion 530 Chip—provide sample throughput flexibility and scalability to match your needs and enable cost-effective analysis of 16, 24, or 96 samples in a single sequencing run.
Leveraging the speed of Ion Torrent NGS, the Ion ReproSeq PGS kits enable detection of whole-chromosome, mosaic, and small copy number events from just six pg of DNA from single or multiple cells.
The simple cartridge-loaded reagents and straightforward user interface of the Ion GeneStudio S5 System, along with automated template preparation on the Ion Chef System, minimize user errors and facilitate rapid implementation of PGS research in your lab.]
The Ion ReproSeq PGS kits offer:
- Sample throughput flexibility—three kit configurations enable analysis of 16, 24, or 96 samples in a single run on a single platform
- Rapid NGS workflow for aneuploidy analysis—cells to results in less than 10 hours*
- Simple, end-to-end workflow—reduce hands-on time to less than 2 hours* and minimize user error
- Enhanced interpretation of results with Ion Reporter Software—mosaicism detection, gender masking, and improved data plotting (for easier data interpretation)
Torrent Suite Software coordinates all the experiment planning and data processing steps necessary to complete your targeted sequencing workflow. Its intuitive, web-based interface through the Torrent Browser enables users to plan, monitor, and view sequencing run results quickly and simply. Data generated on an Ion GeneStudio S5 System are transferred to the Ion S5 Torrent Server for base calling and automatically uploaded to Ion Reporter Software for further analysis.
The aneuploidy analysis workflow in Ion Reporter Software makes analyzing and reporting aneuploidy results simple and fast. This low-pass coverage analysis workflow processes samples by comparing them to a built-in bioinformatics control baseline to deliver the DNA ploidy status of each sample. Users can visualize aneuploidy profiles using the customized IGV Karyotype View and create their own interpretive report.
Results obtained from Ion ReproSeq PGS kits run on either an Ion GeneStudio S5 System or the Ion PGM System benefit from new functionalities such as mosaicism detection, gender masking, and improved analysis time using Ion Reporter Software v5.4 or higher.
Presentation: Ion ReproSeq PGS Kit: simple and scalable NGS workflow for aneuploidy research
Presentation: Ion ReproSeq Kit in PGT-A research applications
Presentation: PGT-A Experience, Managing the increasing workload, and Implementing PGT-M with AmpliSeq Technology
Simultaneously research PGT-A and PGT-M in the same NGS workflow from a single sample
Reproductive health education
1. Mascarenhas MN, Flaxman SR, Boerma T, Vanderpoel S, Stevens GA. National, regional, and global trends in infertility prevalence since 1990: a systematic analysis of 277 health surveys. PLoS Med. 2012;9(12):e1001356.
2. Rubio C, Bellver J, Rodrigo L, Castillón G, Guillén A, Vidal C, Giles J, Ferrando M, Cabanillas S, Remohí J, Pellicer A, Simón C. In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study. Fertil Steril. 2017 May;107(5):1122-1129.
*Turnaround time for the Ion ReproSeq PGS Kit with Ion 510 Chips (16 samples/run) is less than 10 hours with less than 2 hours of hands on time
For Research Use Only. Not for use in diagnostic procedures.