Preimplantation Genetic Testing

PGT-A, PGT-SR and PGT-M using NGS

In 2014 Bioarray pioneered the application of next generation sequencing (NGS) for Preimplantation Genetic Testing (termed PGS & PGD at the time). Bioarray firstly integrated informativity testing, monogenic-disease diagnosis and aneuploidy screening (i.e. PGT-M workup + PGT-M + PGT-A) in a single fast robust NGS workflow, providing unparalleled benefits to patients.

Now it is possible to use NGS technology for PGT allowing not only to select embryos with a higher probability of implantation and thus drastically improve the IVF success rates, but also to use it as a diagnostic tool for couples at higher risk of having children with genetic conditions.

The main ADVANTAGES of PGT using next-generation sequencing are:

• Comprehensive detection of aneuploidies in the 24 chromosomes.
• Detection of single-gene disorders (when there is an indication because of carrier parents).
• For the first time it is possible to combine the detection of aneuploidies and single-gene disorders at a reduced cost and with a single biopsy.
• More affordable cost, making it possible for more couples to have access to PGT.

Bioarray offers all kinds of Preimplantation Genetic Testing using NGS:

• PGT-A: PGT for Aneuploidy screening, consisting of the genetic study of the embryo’s genome in order to determine chromosomal status and in this way, selecting chromosomally normal (euploid) embryos for transfer, increasing pregnancy success rates in IVF.
• PGT-SR: PGT for chromosomal Structural Rearrangements, through a similar approach as PGT-A, but with a focus on the specific indication i.e. one of the partners is a healthy carrier of a balanced chromosomal translocation, either reciprocal or Robertsonian, impacting their fetrility.
• PGT-M: PGT for Monogenic disorders, allowing the detection of a specific mutation in the embryos, a powerful tool for those couples resorting to IVF to prevent a single-gene disorder being passed on to their children (e.g. cystic fibrosis).

Bioarray performs PGT with the three kinds of cells typically biopsied by IVF labs: polar bodies, day-3 embryo biopsy (blastomeres) and day-5 blastocyst biopsy (trophoectoderm). The latter allowing for mosaicism assessment thanks to NGS sensitivity.

Bioarray launched this new NGS testing after conducting an extensive validation study, based on the comparison of PGT-A results by NGS to well established aCGH, with more than 100 embryos diagnosed and 100% diagnosis correspondence by both techniques.

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