Non invasive pre-implantational genetic evaluation for human embryos

• Grant number: 19/10022-8
• Support Opportunities: Research Grants - Innovative Research in Small Business - PIPE
• Start date: April 01, 2020
• End date: December 31, 2020
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Jose Gonçalves Franco Junior
• Grantee: Jose Gonçalves Franco Junior
• CNAE: Atividades de serviços de complementação diagnóstica e terapêutica
• Principal investigators: Antonio Hélio Oliani ; Laura Diniz Vagnini Alavarse
• Associated researchers: Adriana Renzi ; Ana Lúcia Mauri ; Joao Batista Alcantara Oliveira

Abstract

Embryonic aneuploidies are considered as a dominant factor among the etiology of in vitro fertilization failures. It is estimated that 40-60% of human embryos are aneuploid and that number increases to up to 80% after 40 years of age. Therefore, pre-implantation genetic testing (PGT) is increasingly used in the selection of embryos for patients submitted to assisted reproduction techniques. However, even though it is routinely offered and its use continues to increase, researches have shown that the removal of cells from embryos through embryo biopsy may interfere with embryo development and have a negative impact on embryo viability and implantation potential. Thus, novel approaches have been used for the non-invasive use of PGS, such as the attempt to isolate DNA from blastocoel fluid and more recently the detection of aneuploidies using free DNA in the culture medium. The objective of this project is to implement and enhance a non-invasive pre-implantation genetic test in human embryos using the cell-free DNA present in the blastocyst culture medium as an alternative to the conventional genetic tests derived from embryo biopsy (PGT - Preimplantation Genetic Testing). Noninvasive genetic study will be performed through non-invasive genetic sequencing (NGS - new generation sequencing) research.As a non-invasive test, external interference that may impair the development of embryos will be reduced, making the procedure safer, more accessible to assisted reproduction clinics, as it does not require specialized training in obtaining the genetic material to be analyzed and reducing the cost to the patient. To date, there are no national competitors for the noninvasive PGT, so the development of this research will make this new approach possible on the national scene, making the CPDP a pioneer in this technique, offering the most modern for associated clinics. (AU)