Preimplantation Genetic Diagnosis by Next Generation Sequencing (NGS)
PGD using NGS
iBaby exclusively launches the service of Preimplantation Genetic Diagnosis (PGD) by means of next-generation sequencing (NGS). Nowadays, next-generation sequencing is the advanced technique to study the human genome.
For the first time, it is possible to use this technology for PGD allowing us 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 by means of next-generation sequencing are:
• Simultaneously detection of aneuploidies in the 24 chromosomes.
• Detection of single-gene disorders (in the 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 only one biopsy.
iBaby 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 their chromosomal arrangement and in this way, selecting chromosomally normal (euploid) embryos for implantation, 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, Thalassemia).
iBaby performs PGS and PGD with the three kinds of cells typically biopsied by experienced embryologists : polar bodies, day-3 embryos biopsy (blastomeres) and blastocyst biopsy (trophoectoderm).
iBaby 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 hundreds embryos diagnosed.