Thanks to PGS preimplantation diagnostics 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 up-to-date method used in such diagnostic tests and is thought to be a reference method in this field. INVICTA Genetics Laboratory is the only one in Poland and one of 10 such laboratories worldwide with a certificate confirming reliability and high quality of embryo genetic testing, PGS-NGS.
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 PGS preimplantation testing. The quality assessment included 53 laboratories from the whole world that were specializing in genetic diagnostics using a microarray method (such as CGH – 43 laboratories in total) or next generation sequencing (NGS – 10 laboratories in total). INVICTA Genetics Laboratory was the only one in this group to implement the most advanced NGS technology based on semiconductor technology.
The control program assessed whether results of preimplantation tests that had been issued were correct – with regard to the correct detection of changes in the number of all chromosomes and data interpretation. It regarded analyses performed on two types of material collected from an embryo: a single cell, blastomere, and several cells of the trophoectoderm – says dr Sebastian Pukszta, INVICTA Genetics Laboratory. Each participant of the program received samples for three embryos to be tested. 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, whether in two other severe genetic defects were observed – chromosomal aneuploidies.
The control program demonstrated that there had been no errors only in centres using next generation sequencing technology. 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 DNA next generation sequencing (NGS) were correct.
INVICTA Genetics Laboratory obtained the highest possible results regarding correct genotyping and result interpretation what confirms reliability and high quality of NGS preimplantation testing – emphasizes dr Pukszta. INVICTA Clinics and Medical Laboratories are the only Polish centre that has been independently performing embryo genetic testing for more than 9 years. Thanks to commitment of a research team in 2013 they introduced an innovative test called PGS NGS 360TM into clinical practice, being a pioneer worldwide. This test is based on DNA next generation sequencing with a semiconductor method – namely postlight technology, without any color reactions used in 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 single gene diseases and disturbances associated with the presence of translocations in children. It should be performed especially in subjects with a positive genetic family history (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 disturbances as well as in women becoming pregnant after the age of 35 years. PGD diagnostic tests increase the rate of embryo implantation and birth of healthy children.