Preimplantation Genetic Testing

An estimated 48.5 million couples suffer from infertility worldwide (1), driving up usage of assisted reproductive technologies around the globe. As a result, preimplantation genetic testing (PGT) has become commonplace in research during in vitro fertilization (IVF) procedures. These innovative solutions deliver fast results from precious samples, without the complexities that traditionally come with genetic analysis tools.

 

Two types of testing solutions are commonly used in PGT to evaluate the status of an embryo. Thanks to the power of Ion Torrent technology, a single sample can now be used for both PGT-A (aneuploidy) and PGT-M (monogenic disorders) IVF investigations within a simple, integrated workflow.

 

Advancements in NGS methods enable simple, scalable, and innovative sample-to-answer workflow solutions for PGT-A and PGT-M. With integrated analysis tools, PGT by NGS is now accessible by any lab, regardless of expertise.

 

Preimplantation genetic testing-aneuploidy (PGT-A)

  • Used for detection of aneuploidies, or chromosomal abnormalities, across all 24 chromosomes (22 autosomes and the X and Y chromosomes)
  • Examples include trisomy 21 (Down syndrome) and monosomy X (Turner syndrome)

Preimplantation genetic testing-monogenic (PGT-M)

  • Linkage analysis identifies relevant alleles for single gene disorders within the family
  • Examples include sickle cell anemia, cystic fibrosis, Huntington disease, fragile-X, and spinal muscular dystrophy

Benefits of using Ion Torrent NGS for comprehensive PGT

  • Comprehensive results from a single sample and integrated NGS workflow—with the combined PGT-A and PGT-M solutions
  • Accessible NGS regardless of experience, with simple, integrated analysis tools—customizable analysis from Ion Reporter software for aneuploidy calling and PGD-SEQ linkage analysis software for comprehensive familial carrier status
  • Economic in-house PGT solution that grows with your business—Ion chip technology addresses variable throughput needs to cost-effectively process PGT-A and PGT-M samples on the same system without the need to outsource
  • Rapid workflow for time-sensitive samples—go from sample to results in less than 12 hours**
  • Set-up-and-go solution—allows new users to get up and running quickly with less training

Video: Comprehensive PGT analysis from a single biopsy

A single sample can now be used for PGT-A and PGT-M within a simple, integrated workflow.

Perform PGT-A and PGT-M on one NGS platform

Traditionally, PGT-A and PGT-M samples required separate processing. PGT-M required expertise to design and verify informative genetic markers to interrogate each specific disorder. Lack of expertise combined with increased hands-on time and the need for additional resource management made it a challenging for labs to offer this service.

 

Today, the Ion ReproSeq PGS kit for PGT-A and PGD-SEQ* kit for PGT-M enable simultaneous research of chromosomal abnormalities and monogenic disorders for IVF, all in one convenient Ion GeneStudio S5 System NGS workflow. This complete, end-to-end solution includes simple, integrated reporting tools, making results accessible regardless of your team’s NGS and informatics expertise.

Infographic: Combined PGT

NGS workflow for comprehensive PGT

With Ion Torrent NGS, easily go from sample to results in less than 12 hours.** PGT-A and PGT-M libraries are prepared manually, then pooled libraries are placed in the Ion Chef System for isothermal amplification, enrichment, and loading onto Ion S5 Chips. Chips and reagents are placed in the Ion GeneStudio S5 System for sequencing. Data analysis is performed by Ion Reporter software for aneuploidy calling and PGD-SEQ linkage analysis software for comprehensive familial carrier status.

PG2129-PJT6625-COL113683-FB-NG-RH-ComprehensivePGT-Workflow-Global-F
Figure 1. Combined PGT-A and PGT-M workflow using Ion Torrent NGS.

Ordering information

Consult an expert about how to bring simple and scalable NGS to your lab for comprehensive PGT.

References

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.

 

*PGD-SEQ is a trademark of Bioarray, S.L.
**Assumes two operators for library preparation

For Research Use Only. Not for use in diagnostic procedures.