PGT using NGS

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.

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.

NEW PGT-A CE-IVD mark

Bioarray's PGT-A is nowadays an in vitro diagnostic test, based on the NGS platform we use which achieved the CE-IVD mark. This endorses our NGS approach over other research use only PGT-A tests.

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-SR by SNPs, allowing prioritising transfer of embryos not carrying the parental translocation and detection of uniparental disomy when there is such risk because of particular translocations.
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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DOWNLOAD PGT-SR by SNPs INFORMATION

PGT-A Premium

The PGT-A Premium is our most comprehensive PGT-A test. It allows selecting the most viable embryos obtained in the in vitro fertilization (IVF) procedure, increasing the accuracy and confidence for embryo transfer.

What does the PGT-A Premium allow?

It allows analyzing, in addition to aneuploidies, more than 800 SNPs in the genome.

SNP analysis increases the capabilities of the PGT-A.

	PGT-A Allows to select the most viable embryos increasing the chances of IVF success
	SIBLING QC Avoids the mixing of embryos, thus giving tranquillity & security to the parents
	DETECTION OF HAPLOID OR TRIPLOID EMBRYOS Allows to recognise 2PN euploid embryos that otherwise would be discarded based on an initial 0PN/1PN/3PN post-fertilization observation
	ORIGIN OF ANEUPLOIDY Determination of maternal or paternal origin of aneuploidies to guide future decisions

What are the benefits?

Avoid unsuccessful transfer of non-viable aneuploid embryos, increasing the pregnancy rate
Reduces the miscarriage rate
Reduces the risk of aneuploid syndromes
Allows the transfer of a single embryo with great efficiency
Accurate detection of haploid or triploid embryos
Avoids the incorrect designation of “mosaic”
Higher proportion of embryos classified as “euploid”