Thanks to preimplantation genetic diagnosis (pgs) it is possible to effectively reduce the rate of genetic defects in children. This test is performed as part of the in vitro procedure and makes it possible to detect embryo chromosomal abnormalities even before a woman becomes pregnant. Next Generation Sequencing (NGS) is currently the most advanced PGS method and is thought to be a reference method in this field. We introduced it into our clinical practice in 2013 – as the first clinic in Europe. INVICTA Genetic Laboratory is the only one in Poland and one of 10 such laboratories worldwide with a certificate confirming reliability and high quality of PGS-NGS embryo genetic testing.
In 2015 two prestigious organizations – UK NEQAS (United Kingdom National External Quality Assessment Service) and CEQAS (Cytogenetic External Quality Assessment Service) for the first time performed an international interlaboratory control program for centres performing preimplantation genetic testing. The quality assessment included 53 laboratories worldwide specializing in genetic diagnostics using a microarrays (such as aCGH – 43 laboratories in total) or next generation sequencing (NGS – 10 laboratories in total). INVICTA Genetic Laboratory was the only one in the latter group to implement the most advanced NGS technology based on semiconductor technology.
The control program assessed whether results of preimplantation tests of the provided samples were correct – with regard to the correct detection of changes in the number of all chromosomes and data interpretation. It consisted of analyses performed on two types of material collected from an embryo: a single blastomere cell and several trophoectoderm cells – says dr Sebastian Pukszta of INVICTA Genetic Laboratory. Each participant of the program received for testing samples from three different embryos. Each laboratory sent back results obtained, along with comments. Correct results were made public along with an assessment of each laboratory. One embryo was normal, whereas two others had severe genetic defects – chromosomal aneuploidies.
The control program demonstrated that only centers using next generation sequencing technology obtained all correct results. Some laboratories using the microarray technologies issued incorrect results – they incorrectly confirmed lack or presence of a defect or incorrectly determined its type. All analyses made with next generation DNA sequencing (NGS) were correct.
INVICTA Genetics Laboratory obtained the best possible result regarding correct genotyping and result interpretation what confirms reliability and high quality of NGS preimplantation testing – emphasizes dr Pukszta. INVICTA is the only Polish center that has been independently performing embryo genetic testing for over 9 years. Thanks to the commitment of our research team in 2013, as a worldwide pioneer, we introduced into clinical practice an innovative test called PGS NGS 360TM. This test is based on DNA next generation sequencing using a semiconductor method i.e., postlight technology that does not use any color reactions, in contrast with the microarray technology and other NGS technologies.
NGS preimplantation diagnostics makes it possible to reduce the rate of severe chromosomal defects. It can also be used in the detection of monogenic diseases and chromosomal aberrations such as translocations. It is recommended for patients with a family history of genetic disorders (presence of genetic diseases in the family, confirmed genetic mutations in patients), couples with recurring miscarriages or in couples whose children have been diagnosed with genetic disorders as well as in women becoming pregnant after the age of 35. PGD diagnostic tests increase the rate of embryo implantation and birth of healthy children.