NGS PGD method (preimplantation genetic diagnosis based on next-generation sequencing platform) uses the most up-to-date techniques of human genome sequencing (reading of genetic information) for testing embryos.
It is used as part of in vitro fertilization and provides students with comprehensive information concerning embryo's DNA for chromosome abnormalities or genetic mutations. It provides physicians with a unique opportunity to help couples who are exposed to an increased risk of genetic abnormalities in the fetus.
To date, in case of appropriate indications it was possible to carry out preimplantation genetic diagnosis with the use of FISH or microarray (aCGH) techniques. Both are effective, but they have their limitations.
Next Generation Sequencing (NGS) is currently the reference method (it confirms results) for other genetic diagnostics methods (such as RT-PCR, CGH). NGS is extremely sensitive test, which allows to identify a number of genetic modifications. Owning to this revolutionary solution the credibility of the result reaches 99,999% (Q50 by Phred Quality Score). It provides access to a vast amount of data, which in turn enables to determine patient condition more effectively and customize further treatment to his needs.
With Next Generations Sequencing the coding sequence of each gene is read hundreds of times. In comparison, when using Sanger sequencing method, sequences are read a few times at most. At the pre-diagnostic phase, as opposed to microarray (CGH), there is no need to know precisely what kind of information is required to be detected. Next Generation Sequencing enables to analyses the entire gene. It detects not only modifications in single nucleotides, but also deletions and insertions.