PREMIUM PGT SOLUTION – COMPREHENSIVE PREIMPLANTATION GENETIC TESTING

1. Introduction to the Technology

Preimplantation Genetic Testing (PGT) is a genetic screening technique performed on embryos during in vitro fertilization (IVF) to detect genetic abnormalities before embryo transfer into the uterus. In recent years, advancements in Next-Generation Sequencing (NGS) have made it feasible to analyze an embryo’s entire genome from just a few cells, with high speed and accuracy.

The Premium PGT solution from Thermo Fisher Scientific on the Ion Studio S5 Series is currently the only platform that enables simultaneous analysis of three types of tests—PGT-A (aneuploidy screening), Polyploidy detection, and PGT-M (monogenic disorder testing)—using a single biopsy sample in a single sequencing run.

This integrated capability is a significant technical advantage. Unlike other systems where PGT-A and PGT-M analyses are conducted separately, leading to increased time, costs, and potential errors across multiple platforms, Premium PGT streamlines the process, synchronizes data analysis, and significantly saves resources.

2. Test Components

• PGT-A (Preimplantation Genetic Testing for Aneuploidy)

Analyzes all 24 chromosomes (22 autosomes and the X/Y pair) to detect aneuploidies such as trisomy or monosomy, which are common causes of early miscarriage or implantation failure.

• Triploidy (Polyploidy) Detection

Triploidy (69,XXX or 69,XXY) is a form of whole-genome triplication that often leads to very early miscarriage and can be mistaken for a normal 46,XX karyotype if relying solely on aneuploidy data. The Premium PGT solution incorporates the Ion AmpliSeq™ Polyploidy Panel, utilizing SNP data to accurately identify triploidy and distinguish it from a normal genome.

• PGT-M (Preimplantation Genetic Testing for Monogenic Disorders)

Monogenic disorders such as cystic fibrosis, thalassemia, and Huntington’s disease can be analyzed directly from the same biopsy sample using the same library preparation workflow as PGT-A. This eliminates the need for separate runs, reduces workload, and does not delay result turnaround time.

3. Technical and Clinical Benefits

• One biopsy sample – one NGS run – three analyses: Optimizes the workflow, reduces processing time, and lowers costs.
• Integrated SNP data: Enables triploidy detection, assesses risks of maternal DNA contamination, and verifies sibling embryo relationships (sibling QC).
• Fully automated workflow: From library preparation to sequencing and report analysis.
• Scalable implementation: Suitable for small IVF centers to large hospital systems, with the capacity to process from a few to hundreds of samples daily.

Premium PGT is a comprehensive and advanced solution that ensures accurate, rapid, and consistent embryo screening while simplifying laboratory operations. Please contact us for technical consultation, system configuration, and implementation support at your facility.