Preimplantation Genetic Diagnosis
PGS and PGD using NGS
In 2014 Bioarray pioneered the application of next generation sequencing (NGS) for Preimplantation Genetic Diagnosis (PGS & PGD). Bioarray lab integrates informativity testing, monogenic-disease diagnosis and aneuploidy screening (i.e. PGD setup + PGD + PGS) in a single fast robust NGS workflow, providing unparalleled benefits to patients.
For the first time it is possible to use this technology for PGD allowing not only to select those 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 PGD using next-generation sequencing are:
- Simultaneous detection of aneuploidies in the 24 chromosomes.
- Detection of single-gene disorders (in case 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 PGD.
Bioarray offers both kinds of Preimplantation Genetic Testing using NGS:
- Preimplantation Genetic Screening (PGS), consisting of the genetic study of the embryo’s genome in order to determine chromosomal arrangement and in this way, selecting chromosomally normal (euploid) embryos for transfer, increasing pregnancy success rates in IVF.
- Preimplantation Genetic Diagnosis (PGD), 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 PGS and PGD with the three kinds of cells typically biopsied by IVF labs: polar bodies, day-3 embryo biopsy (blastomeres) and day-5 blastocyst biopsy (trophoectoderm).
Bioarray launched this new NGS testing after conducting an extensive validation study, based on the comparison of PGS results by NGS to well established aCGH, with more than 100 embryos diagnosed and 100% diagnosis correspondence by both techniques.