Early detected inherited diseases and genetic disorders.
Preimplantation genetic screening (PGS) with next generation sequencing (NGS)
Preimplantation genetic screening (PGS) with next generation sequencing (NGS) is the newest technique used to detect abnormal number of chromosomes from a single cell.
PGS NGS is advised to patients of advanced age who have a history of recurrent failed implantations and miscarriages. It is also indicated in patients with severe male infertility factor, e.g. if their sperm is of very poor quality.
Most recent studies prove that PGS increases the chance for getting pregnant in 55-70% of cases.
How does PGS NGS look like?
The test is performed on embryos during an in vitro cycle.
- Embryo biopsy
Embryos are collected in 72-76 hours after fertilisation when they consist of 6-8 cells. This technique needs to be highly precise and is carried out by the most experienced embryologists. After biopsy embryos are placed back into the incubator so that they can develop further.
An embryo cell biopsy does not affect the normal development of the embryo. The risk of ceased development after biopsy is 0.53%.
- Genetic testing
Cell obtained during biopsy are prepared for analysis and undergo genetic testing.
- Embryo transfer
The transfer takes place immediately after receiving the results of genetic analysis, usually 4 or 5 days after collecting oocytes (puncture).