Even in young women more than 50% of cleavage-stage embryos are chromosomally abnormal and it increases up to almost 100% with woman’s age. Aneuploidies are very common abnormalities in human embryos, so in order to obtain a viable pregnancy they should be detected so that abnormal embryos can be excluded prior to transfer. Morphological assessment alone cannot determine the genetic status of an embryo. Fortunately, nowadays, we can use a number of different technics of Preimplantation Genetic Screening for aneuploidies. To date the most commonly used PGS methods were FISH and aCGH. Although the use of these methods led to significant increases in obtained pregnancies, they still remain imperfect. More detailed methods of embryonic genetic analysis are still needed in order to eliminate false positive results and to make diagnosis more reliable. Our research into Next Generation Sequencing (NGS) has shown that it is, indeed a very attractive option.
We have designed and performed a trial to determine the impact of semiconductor-based NGS for cleavage-stage PGS on IVF outcomes. For this purpose we followed up and analysed treatment results of 45 patients who underwent blastomere biopsy with PGS and fresh cycle transfer. We compared obtained results to the outcomes of 53 patients selected to serve as a control group. Those patients underwent the same standard IVF procedures, but without PGS.
Our findings show a significant increase in the pregnancy rate in the group of patients whose treatment included NGS-based PGS. The pregnancy rate was more than 40 percentage points higher in the NGS group when compared to the control group (84.4 % vs. 41.5 %, p<0.01).
More detail description of this study as well as advantages of NGS over currently used PGS methods is available in our article :